International Treatment and Testing Resource Guide
2013
OUR MISSION
To find effective treatments and a cure for Fanconi anemia and to provide education and support services to affected families worldwide.
1801 Willamette Street, Suite 200 Eugene, OR 97401 541-687-4658 Toll Free: 888-FANCONI (inside the US only) Fax: 541-687-0548 www.fanconi.org [email protected]
Staff
Beverly Mayhew, Executive Director...... [email protected] Teresa Kennedy, Director of Family Support...... [email protected] Kristi Keller, Bookkeeper and Administrative Assistant...... [email protected] Kim Larsen, Conference and Publications Coordinator ...... [email protected]
To contact the staff by phone: Toll-free, in the US only: 888-FANCONI (888-326-2664) Outside the US: 541-687-4658
Table of Contents
US FA Treatment Resources Bone Marrow Failure...... 1 Bone Marrow Donor Registries...... 11 Cord Blood Registries...... 12 Endocrinology...... 12 Gastroenterology...... 13 Genetic Counseling...... 13 Gynecology...... 14 Hand Surgeons...... 14 Ophthalmology...... 15 Otolaryngology (Ear, Nose, Throat) and Head & Neck Cancer...... 16 Pre-Implantation Genetic Diagnosis (PGD)...... 18 US FA Testing Resources...... 19 International FA Treatment Resources Australia...... 22 Austria...... 23 Brazil...... 23 Canada...... 24 China...... 24 Colombia...... 24 Czech Republic...... 25 Denmark...... 25 France...... 25 Germany...... 26 India...... 26 Iran...... 27 Israel...... 27 Italy...... 28 Japan...... 28 Kenya...... 29 Lebanon...... 29 Mexico...... 29 Netherlands...... 30 New Zealand...... 31 Saudi Arabia...... 31 Singapore...... 31 South Africa...... 31 Spain...... 32 Turkey...... 33 United Kingdom...... 34 International FA Testing Resources...... 35 Index of Institutions and Clinicians...... 38
US Fanconi Anemia Treatment Resource Guide Editors’ Note and Disclaimer: The resource list provided in this guide is not comprehensive. Inclusion on the list does not imply endorsement by the Fanconi Anemia Research Fund, Inc. Families are encouraged to ask clinicians about their experience treating patients with Fanconi anemia.
BONE MARROW FAILURE
Boston Children’s Hospital & Dana-Farber • Hematology: David A. Williams, MD; Colin Sieff, Cancer Institute, The Fanconi Anemia and MB BCh; Mary Cogan, CPNP, RN, CPHON • Molecular Diagnostics: Alan D’Andrea, MD; Lisa Bone Marrow Failure Multidisciplinary Moreau, MS, CLSpCG; Bai-Lin Wu, PhD, M Med Clinic FACMG, Ann E. Reinhard, MS, CGC Boston Children’s Hospital • Nephrology: Michael Ferguson, MD 300 Longwood Ave. • Otolaryngology: Reza Rahbar, DMD, MD, FACS Boston, MA 02115 • Pulmonary Medicine/Aero-Digestive Disorders: http://www.childrenshospital.org/fa-bmf Catherine Sheils, MD • Social Work: Susanna Locke, LCSW • David A. Williams, MD • Urology: Hiep (Bob) Nguyen, MD Telephone: 617-919-2697 Email: [email protected] Services Offered: □□Our Nurse Practitioner arranges a comprehensive • Colin Sieff, MB BCh evaluation for each new patient, including Telephone: 617-355-2367 confirmation of diagnosis, genetic typing, HLA Email: [email protected] typing, and a multi-system evaluation. The team • Mary Cogan, CPNP, RN, CPHON, Nurse carefully examines previous diagnostic test results Practitioner and past medical history to guide the initial Telephone: 617-355-8246 Fax: 617-730-0641 evaluation in the multi-disciplinary clinic. This results Email: [email protected] in a written summary and recommendations for the referring physician and the patient’s family. Ongoing Dana-Farber Cancer Institute care may continue at Children’s or in partnership 450 Brookline Avenue with the referring physician. Psychosocial support is Boston, MA 02215 available and an important part of our long-term care http://research.dfci.harvard.edu/dandrealab of families of patients with serious diseases. • Alan D’Andrea, MD □□A variety of innovative clinical trials are available Telephone: 617-632-2080 for enrollment. Two current studies for patients Email: [email protected] with Fanconi anemia are: 1) the use of danazol, an androgen and 2) a hematopoietic stem cell • Lisa A. Moreau, MS, CLSpCG transplantation trial for those lacking a genotypically Telephone: 617-632-6302 identical donor. Email: [email protected] □□Diagnosis of new FA patients through Clinical Specialists: Laboratory Improvement Act (CLIA) certified • Adolescent Medicine/Gynecology: Amy DiVasta, MD diepoxybutane (DEB) test. • Blood and Marrow (Stem Cell) Transplantation: □□Facilitation of DNA mutation identification via CAP/ Leslie Lehmann, MD CLIA certified DNA sequencing in the Laboratory • Cardiology: David Harrild, MD, PhD Medicine Department at Boston Children’s Hospital • Endocrinology: Laurie Cohen, MD coordinated with Dr. Bai-Lin Wu and Ann Reinhard. • Gastroenterology: Leonel A. Rodriguez, MD, MS Current available testing for FANCA, FANCC, and • Genetics: Jonathan Picker, MD, PhD; Pam Hawley, FANCG are listed at www.genetests.org. Genetic MS, CGC • Hand Surgery: Brian Labow, MD (Continued on next page)
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Boston Children’s Hospital & Dana-Farber • Pamela Young, RD Cancer Institute, cont’d • Mary Beth Jones, Child Life Coordinator
Counselor: Ann E. Reinhard, MS, CGC, phone: Services Offered: 617-355-4907, [email protected]. Children’s Hospital Central California provides □□Complementation analysis via retrovirus gene diagnostic, treatment and referral services to children transfer. ages birth to 21 years in California’s Central Valley, at □□Fundamental research in DNA repair pathways, the only pediatric hospital between Los Angeles and San induced pluripotent stem cells and gene therapy. Francisco and the largest children’s hospital between San □□Referral for pre-implantation genetic diagnosis Diego, and San Francisco. Patients are seen and treated services at two sites in Boston if we find disease from initial diagnosis to and beyond bone marrow causing mutations. transplant for which patients are referred to nationally recognized transplant centers. Patients receive specialty Children’s Hospital Los Angeles, Keck care within the Fanconi anemia treatment program as well as from Genetics, Orthopaedics, Cardiology, School of Medicine, University of Southern Behavioural Health Sciences and other specialty California services. Patients with Fanconi Anemia are provided 4650 Sunset Boulevard, MS #62 supportive, educational and consultive services to further Los Angeles, CA 90027 enhance care.
• Neena Kapoor, MD, Division of Research Immunology & Bone Marrow Transplant Children’s Hospital of Wisconsin Telephone: 323-361-2546 Fax: 323-361-8068 MACC Fund Research Center, Suite 3 Email: [email protected] 8701 Watertown Plank Road Milwaukee, WI 53226 Children’s Hospital Central California Monica Thakar, MD 9300 Valley Children’s Place Telephone: 414-955-4170 Fax: 414-456-6543 Madera, California 93636 Email: [email protected]
Department of Pediatric Hematology Services Offered: Telephone: 559-353-5460 Fax: 559-353-5095 □□Evaluation of new and previously diagnosed patients; Email: [email protected] □□Personalized treatment regimens and coordination • Vinod Balasa, MD, Director of Hematology/ of care by specialists in hematology, bone marrow Oncology transplantation, cardiology, endocrinology, genetics, gastroenterology, nephrology, urology, orthopedics, • Faisal Razzaqi, MD social work; • Wendy Tcheng, MD □□Stem cell collection, storage, and infusion; □□Expertise in matched sibling donor, unrelated donor, • Ruetima Titaphiwatanakun, MD and haploidentical (alternative donor) transplantation • Terea Giannetta, BSN, MSN, DNP, CPNP, Nurse for Fanconi anemia; Practitioner □□Collaborations with Fred Hutchinson Cancer • William Koole, Pharm.D Research Center and Memorial Sloan-Kettering Cancer Center in alternative donor clinical trials. • Frances Patterson, RN, BSN, Clinical Coordinator • Nancy G. Hatcher, MSW, Clinical Social Worker • Torri Miller, PhD, Clinical Psychologist • Shari Langer, PhD, Clinical Psychologist
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Cincinnati Children’s Hospital Medical • Michael Rutter, MD, Professor of Pediatrics, Center, The Fanconi Anemia Comprehensive Division of Otolaryngology Telephone: 513-636-4881 Fax: 513-636-8133 Care Center Email: [email protected] 3333 Burnet Ave. Cincinnati, OH 45229 • Lesley Breech, MD, Director Assistant Professor of www.cincinnatichildrens.org Pediatrics, Pediatric and Adolescent Gynecology Telephone: 513-636-2960 Fax: 513-636-8844 • Tracy Ashworth, RN, Nurse Coordinator, Fanconi Email: [email protected] Anemia Comprehensive Care Center, Division of Blood and Marrow Transplantation and Immune • Leslie Ayensu-Coker, MD, Assistant Professor of Deficiency, Cancer and Blood Diseases Institute Pediatrics, Pediatric and Adolescent Gynecology Telephone: 513-636-3218 Fax: 513-636-7951 Telephone: 513-582-6901 Email: [email protected] • Sarah Lawson, MD, Assistant Professor of • Stella Davies, MBBS, PhD, MRCP, Jacob G. Pediatrics, Division of Endocrinology Schmidlap Endowed Chair and Professor of Telephone: 513-636-4744 Pediatrics, University of Cincinnati College of Email: [email protected] Medicine, Director, Division of Blood and Marrow • Jose Garza, MD, Assistant Professor, Department of Transplantation and Immune Deficiency, Cancer and Gastroenterology, Hepatology and Nutrition Blood Diseases Institute. Telephone: 513-636-4385 Fax: 513-636-7805 Telephone: 513-636-1371 Fax: 513-636-3549 Email: [email protected] Email: [email protected] • Roger Cornwall, MD, Assistant Professor of • Parinda Mehta, MD, Associate Professor of Pediatrics, Division of Orthopaedics (Hand Surgery) Clinical Pediatrics, University of Cincinnati College Telephone: 513-803-HAND Fax: 513-636-3928 of Medicine, Division of Blood and Marrow Email: [email protected] Transplantation and Immune Deficiency, Cancer and Blood Diseases Institute Services Offered: Telephone: 513-636-5917 Fax: 513-636-3549 □□Evaluation of new and previously diagnosed patients; Email: [email protected] □□Personalized treatment regimens by specialists in bone marrow transplantation, cardiology, • Kasiani Myers, MD, Assistant Professor of endocrinology, genetics, hematology, nephrology, Clinical Pediatrics, University of Cincinnati College urology, orthopedics, hand surgery, social work, and of Medicine, Division of Blood and Marrow family support network; Transplantation and Immune Deficiency, Cancer and □□Pharmacological, and other clinical trials (such as Blood Diseases Institute with cytokines and novel androgens); Telephone: 513-636-7287 Fax: 513-636-3549 □□Fanconi anemia repository for samples and data; Email: [email protected] □□Expertise in matched sibling donor and unrelated • Richard Harris, MD, Professor of Clinical donor transplantation for Fanconi anemia; Pediatrics, University of Cincinnati College □□Fanconi anemia complementation and mutation of Medicine, Division of Blood and Marrow analysis; Transplantation and Immune Deficiency, Cancer and □□Stem cell collection, storage, and reinfusion; Blood Diseases Institute □□Collaborator, International Fanconi Anemia Registry Telephone: 513-803-9063 Fax: 513-636-7951 (Arleen Auerbach, PhD). Email: [email protected]
• Susan R. Rose, MD, MEd, Professor of Pediatrics, Pediatric Endocrinology Telephone: 513-636-4744 Email: [email protected]
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City Of Hope Cohen Children’s Medical Center of New 1500 E. Duarte Rd. York, Bone Marrow Failure Program Duarte, CA 91010 Division of Hematology/Oncology and Stem Cell Telephone: 626-301-8442 Transplantation Email: [email protected] 269-01 76th Ave., Rm. 225 New Hyde Park, New York 11040 • Joseph Rosenthal, MD, Chair, Department of Pediatrics, Pediatric Hematology/Hematopoietic Cell • Adrianna Vlachos, MD, Assistant Professor of Transplantation Pediatrics, Head, Bone Marrow Failure Program and Associate Head, Stem Cell Transplant Program • Anna Pawlowska, MD, Director, Pediatric Telephone: 718-470-3611 Fax: 718-343-2961 Hematology/Hematopoietic Cell Transplantation Email: [email protected] Email: [email protected] • Johnson M. Liu, MD, Les Nelkin Professor • Debbie Hitt, RN, Nurse-Coordinator, Pediatric of Pediatrics, Head, Section of Experimental Hematology/Hematopoietic Cell Transplantation Hematology and Les Nelkin Memorial Pediatric • Nadia Ewing, MD, Director, Pediatric Hematology Oncology Research Laboratory Telephone: 718-470-7174 • April Sorrell, MD, Pediatric Hematology/ Email: [email protected] Hematopoietic Cell Transplantation and Pediatric Clinical Cancer Genetics • Jeffrey M. Lipton, MD, PhD, Professor of Pediatrics, Chief, Division of Hematology/Oncology • Nicole Karras, MD, Pediatric Hematology/ and Stem Cell Transplantation Hematopoietic Cell Transplantation Telephone: 718-470-3460 Email: [email protected] • Joyce Collins, PhD, Cytogenetics • Nancy Barbach, CSW • Smita Bhatia, MD, Pediatrics, Hematology/ Email: [email protected] Hematopoietic Cell Transplantation and Director, Population Sciences Services Offered: □□Bone Marrow Failure Clinic offering comprehensive • Christina Cabanillas, LCSW, Social Worker, evaluation of adult and pediatric FA patients by an Pediatric Hematology/Hematopoietic Cell experienced team of multidisciplinary specialists Transplantation directed by medical and pediatric hematologists; Services Offered: □□Hematopoietic Stem Cell Transplant Program □□Diagnostic testing and screenings of siblings; offering expertise in transplantation in bone marrow □□Complete evaluation, treatment and follow-up of new failure syndromes; and previously diagnosed FA patients; □□Experimental Hematology Program studying □□Information and assistance for physicians in the care molecular mechanisms of hematopoietic failure and of their FA patients; oncogenesis in FA and other bone marrow failure □□Cancer screening and specialist consultations; syndromes. □□Genetic counseling; □□Hematopoietic stem cell transplantation from siblings, matched unrelated donors and umbilical cord blood units; □□Long-term, Fanconi anemia focused, post-transplant follow-up.
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Dana-Farber Cancer Institute • K. Scott Baker, MD, MS, Member and Director, Pediatric Blood and Marrow Transplantation and 450 Brookline Avenue Survivorship Programs, Fred Hutchinson Cancer Boston, MA 02215 Research Center and Seattle Children’s Hospital. • Eva C. Guinan, MD, Associate Professor of Professor of Pediatrics, University of Washington Radiation Oncology; Director, Translational Research School of Medicine. BWH/DFCI Department of Radiation Oncology; Telephone: 206-667-5594 Fax: 206-667-5899 former Director, Stem Cell Transplant Program Email: [email protected] Boston Children’s Hospital/DFCI • Ann Woolfrey, MD, Director, Unrelated Donor Telephone: 617-632-4932 Fax: 617-632-3770 Program, Associate Member, Fred Hutchinson Cancer Email: [email protected] Research Center, Associate Professor of Pediatrics, • Lisa L Brennan BA, RN, Research Nurse University of Washington School of Medicine, Email: [email protected] Pediatric Hematopoietic Cell Transplant Program Telephone: 206-667-4453 Fax: 206-667-4310 Services Offered: Email: [email protected] □□Comprehensive evaluation; □□Second opinions; • Jennifer Adair, PhD, Clinical Research Associate, □□Pre- and post-transplantation evaluation; Fred Hutchinson Cancer Research Center □□Follow-up care and planning. Telephone: 206-667-7110 Fax: 206-667-6124 Email: [email protected]
Fred Hutchinson Cancer Research Center • Pam Becker, MD, PhD, Associate Professor of Medicine, University of Washington School of 1100 Fairview Ave N Medicine, Department of Hematology Seattle, WA 98101 Telephone: 206-288-2294 Fax: 206-543-3560 www.fhcrc.org Jean Sanders, MD, Member, Fred Hutchinson Cancer Research Center, Professor of Pediatrics, Seattle Children’s Hospital University of Washington School of Medicine. 4800 Sand Point Way NE Telephone: 206-667-4348 Fax: 206-667-5899 Seattle, WA 98105 www.seattlechildrens.org Services Offered: □□Evaluation of new and previously diagnosed patients; • Akiko Shimamura, MD, PhD, Director, Marrow □□Complementation group analysis (research basis); Failure Program, Pediatric Hematology-Oncology, □□Personalized treatment regimens by specialists in Seattle Children’s Hospital, Associate Member, hematology, bone marrow transplantation, cardiology, Fred Hutchinson Cancer Research Center Associate endocrinology, genetics, gastroenterology, nephrology, Professor of Pediatrics, University of Washington urology, orthopedics, social work; School of Medicine □□Gene therapy trial; Fanconi anemia repository for Telephone: 206-667-1127 Fax: 206-667-5255 samples and data; Email: [email protected] □□Stem cell collection, storage, and reinfusion; □□Expertise in matched sibling donor, unrelated donor, • Hans-Peter Kiem, MD, Member, Fred Hutchinson and haploidentical (alternative donor) transplantation Cancer Research Center, Investigator, Markey for Fanconi anemia; Molecular Medicine Center, Adjunct Associate □□Collaborator, Hospital de Clinicas, University of Professor of Pathology, Associate Professor of Parana, Brazil (Carmem Bonfim, MD and Ricardo Medicine, University of Washington School of Pasquini, MD, PhD). Medicine Telephone: 206-667-4425 Fax: 206-667-6124 Email: [email protected]
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Hackensack University Medical Center, complementation testing; maintenance of Fanconi Tomorrow’s Children Institute anemia cell and DNA repositories; □□Genetic counseling for individuals involved in the 30 Prospect Ave. IFAR, and their family members. Hackensack, NJ 07601 www.tcikids.com Testing Services on Research Protocol: • Alfred P. Gillio, MD, Director Bone Marrow Failure □□Mutation analysis (Research) Clinic, Pediatric Hematology/Oncology □□FANCD2 western blot (Research) Telephone: 201-996-5600 Fax: 201-996-0521 Email: [email protected] Co-Principal Investigators for the IFAR: • Farid Boulad, MD, Memorial Sloan-Kettering • Barbara Adler-Brecher, MS Cancer Center, New York, NY Email: [email protected] Telephone: 212-639-6684 Fax: 212-717-3555 Email: [email protected] Services Offered: □□Diagnosis and genetic counseling; • Stella Davies, MBBS, PhD, MRCP, Cincinnati □□Comprehensive medical treatment including Children’s Hospital Medical Center, Gynecology and ENT specialists; Cincinnati, OH □□Matched sibling and unrelated donor transplants. Telephone: 513-636-1371 Fax: 513-636-3459 Email: [email protected]
International Fanconi Anemia Registry • Margaret L. MacMillan, MD, University of (IFAR) Minnesota, Minneapolis, MN The Rockefeller University Telephone: 612-626-2778 Fax: 612-626-2815 Laboratory of Genome Maintenance Email: [email protected] 1230 York Ave., Box 182 Head and Neck Surgeon, New York, NY 10065 • David I. Kutler, MD, Weill Cornell Medical Center/New York http://lab.rockefeller.edu/smogorzewska/ifar/ Facebook: Fanconi Anemia Registry or Agata Presbyterian Hospital, New York, NY Smogorzewska Telephone: 646-962-4323, 646-962-0100 Email: [email protected] • Agata Smogorzewska, MD, PhD Telephone: 212-327-7850, or 8862 Fax: 212-327-8262 Email: [email protected] Memorial Sloan-Kettering Cancer Center http://lab.rockefeller.edu/smogorzewska 1275 York Ave. New York, NY 10021 • Arleen D. Auerbach, PhD www.mskcc.org Telephone: 212-327-7533, or 8862 Fax: 212-327-8262 Email: [email protected] • Farid Boulad, MD, Medical Director, Pediatric Day Hospital, Pediatric Hematology and Bone Marrow • Erica Sanborn, MS, CGC Transplantation Telephone: 212-327-8613 Fax: 212-327-8262 Telephone: 212-639-6684 Fax: 212-717-3555 Email: [email protected] Email: [email protected]
Genetic Services on Research Protocol: • Bhuvanesh Singh, MD, PhD, Head and Neck Cancer □□International Fanconi Anemia Registry (IFAR); Telephone: 212-639-2024 □□Mutation screening of probands (gene specific Email: [email protected] sequencing, next generation sequencing, whole exome sequencing, SNP analysis, and/or CHG) for genes • Mercedes Castiel, MD, Gynecology under investigation by the laboratory; Telephone: 212-639-5060 □□Derivation of lymphoblastoid cell line for Email: [email protected] (Continued on next page) 6 BONE MARROW FAILURE, cont’d
Memorial Sloan-Kettering Cancer Center, National Cancer Institute cont’d Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Institutes of Health • Julia A. Kearney, MD, Psychiatry and Pediatrics 6120 Executive Blvd., Executive Plaza South, Room 7020 Telephone: 646-888-0028 Rockville, MD 20892-7231 Email: [email protected] www.marrowfailure.cancer.gov
Services Offered: • Lisa Leathwood, RN, BSN, Research Nurse and □□Comprehensive care and long-term follow-up of Study Coordinator new and previously diagnosed patients, including: Telephone: 301-212-5250 and 800-518-8474 Fax: Hematopoietic Stem Cell Transplantation with related, 301-212-5281 unrelated, matched or mismatched donors, Head and Email: [email protected] Neck Cancer evaluation and treatment, Gynecological Cancer evaluation and treatment, and Endocrinology • Blanche P. Alter, MD, MPH, FAAP clinic; Telephone: 301-402-9731 Fax: 301-212-5281 □□Direct collaboration with Arleen Auerbach, PhD, Email: [email protected] The Rockefeller University, for mutation screening, • Neelam Giri, MD, FAAP complementation group analysis, and somatic Telephone: 301-594-7642 Fax: 301-212-5281 mosaicism studies; Email: [email protected] □□Cell biology research on hematopoietic stem cells and progenitor populations in neoplastic and genetic • Pamela Stratton, MD, Chief, Gynecology Consult diseases. Service Telephone: 301-496-9079 Fax: 301-480-6703 Mount Sinai School of Medicine Email: [email protected] Novel Therapeutics and Stem Cell Transplantation • Carter Van Waes, MD, PhD, Chief Head and Neck Program Surgery Branch; Clinical Director, National Institute Division of Hematology-Oncology on Deafness and other Communication Disorders Annenberg 24-42, Box 1079 Telephone: 301-402-4216 Fax: 301-402-1140 One Gustave L. Levy Pl. Email: [email protected] New York, NY 10029 Services Offered: • Christopher Walsh, MD, Associate Professor of □□Comprehensive clinical evaluation by all Medicine subspecialties; Telephone: 212-241-3443 □□All clinical laboratory tests; Email: [email protected] □□Cancer screening, age and sex appropriate, such as head, neck and esophagus, and gynecological; • Luis Isola, MD, Director, Stem Cell Transplantation □□Bone marrow aspirate, biopsy, and cytogenetics; Program □□Chromosome breakage studies in a CLIA-certified • Anne Hurlet, MD, Associate Professor of Pediatrics clinical laboratory; □□Genetic counseling and mutation analysis in a CLIA- Services Offered: certified clinical laboratory; □□Adult and pediatric FA patients can be seen by □□Comprehensive evaluation of all immediate family specialists in adult medicine and pediatrics; members (with the exception of bone marrow studies); □□Complete hematologic evaluation/treatment and □□Epidemiologic study of cancer in patients and in cancer surveillance; family members. □□Recommendations for stem cell transplantation (related and unrelated donor) at Mount Sinai School of Medicine and elsewhere.
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Oregon Health & Science University, • Kirsten Mouradian, RN, MSN, FNP, Hematology Doernbecher Children’s Hospital Nurse Practitioner Email: [email protected] 3181 S.W. Sam Jackson Park Road Portland, OR 97239 Stem Cell Transplant Telephone: 650-725-9250 • Peter Kurre, MD, Associate Professor, Division of Pediatric Hematology/Oncology • Kenneth Weinberg, MD, Professor, Pediatrics Telephone: 503-494-1543 Fax: 503-494-0714 Email: [email protected] Email: [email protected] • Rajni Agarwal, MD, Assistant Professor, Pediatrics • Evan Shereck, MD, Assistant Professor of Pediatrics Email: [email protected] Telephone: 503-494-0829 Fax: 503-494-0714 Email: [email protected] • Sandhya Kharbanda, MD, Assistant Professor of Pediatrics Services Offered: Email: [email protected] □□Diagnostic evaluation and genetic counseling for FA and other marrow failure syndromes; • Karen Kristovich, RN, MSN, PNP, Stem Cell □□Comprehensive medical treatment; Transplant Nurse Practitioner Email: [email protected] □□Stem cell transplantation; □□Research studies investigating molecular diagnostics, • Tracey Stoll, RN, Related Donor Stem Cell cytogenetics, complementation group subtyping, Transplant Coordinator leukemogenesis, and genetics of Fanconi anemia. Email: [email protected] Services Offered: Stanford School of Medicine, □□Diagnostic evaluation for Fanconi anemia and other Lucille Packard Children’s Hospital bone marrow failure syndromes; Hematology Clinic □□Comprehensive care and long-term follow-up of new 770 Welch Road, Suite 261 and previously diagnosed patients; Palo Alto, CA 94304 □□Stem cell transplantation with matched related donor, www.lpch.org matched unrelated donor, umbilical cord blood, and peripheral blood stem cells. Pediatric Hematology/Oncology Academic Office 1000 Welch Road, Suite 300 Texas Children’s Hospital Palo Alto, CA 94304 6621 Fannin Street, MC3-3320 Hematology/Oncology Houston, TX 77030 Telephone: 650-723-5535 • Alison Bertuch, MD, PhD • Bertil Glader, MD, PhD, Professor, Pediatrics and Telephone: 832-824-4579 Pathology Email: [email protected] Email: [email protected]
• Michael Jeng, MD, Associate Professor, Pediatrics Email: [email protected]
• Wendy Wong, MD, Clinical Assistant Professor, Pediatrics Email: [email protected]
• Judith Lea, RN, MSN, PNP, Hematology Nurse Practioner Email: [email protected] 8 BONE MARROW FAILURE, cont’d
University of Minnesota, Fanconi Anemia • Ann E. Van Heest, MD, Dept. of Orthopaedic Comprehensive Care Program Surgery Telephone: 612-273-8086 Fax: 612-273-7959 University of Minnesota Medical Center and Email: [email protected] Amplatz Children’s Hospital Jo-Anne H. Young, MD MMC 366, University of Minnesota • , Infectious Disease 420 Delaware St., S.E. Telephone: 612-624-9996 Fax: 612-625-4410 Minneapolis, MN 55455 Email: [email protected] Telephone: 612-273-2800 • Pat Fidler, RN, Nurse Coordinator www.bmt.umn.edu/disease/fanconi-anemia Telephone: 612-273-8480 Fax: 612-273-2919 • John E. Wagner, MD, Fanconi Anemia Email: [email protected] Comprehensive Care Program Leader, Director, • Heather Zierhut, MS, CGC, Certified Genetic Division of Hematology/Oncology and Blood and Counselor Marrow Transplantation, CCRF/Hageboeck Family Telephone: 612-626-6743 Fax: 612-273-2919 Chair in Pediatric Oncology & Clinical Director, Email: [email protected] Stem Cell Institute Telephone: 612-626-2961 Fax: 612-626-4074 Services Offered: Email: [email protected] □□The University of Minnesota Fanconi Anemia Comprehensive Care Program (FACCP) utilizes a • Margaret L. MacMillan, MD, Fanconi Anemia multidisciplinary team approach to ensure that the Comprehensive Care Program Leader, Associate care we provide is individually tailored to meet the Professor, Department of Pediatrics, Division of unique needs of each patient and family. Blood and Marrow Transplantation □□The FACCP is composed of expert health care Telephone: 612-626-2778 Fax: 612-626-2815 providers who specialize in blood and marrow Email: [email protected] transplantation, hematology, cancer (head and • Jakub Tolar, MD, PhD, Director, Stem Cell/Gene neck, gynecological), infectious disease, neurology, Therapies, Albert and Eva Corniea Chair, Associate nephrology, cardiology, care partners (volunteer Professor, Department of Pediatrics, Division of family support), social work, genetics, voice Blood and Marrow Transplantation reconstruction (to treat androgen side effects), Telephone: 612-625-2912 Fax: 612-624-3913 nutrition therapy, orthopedic surgery, endocrinology Email: [email protected] (diabetes, short stature), dietician, gastroenterology, gynecology and fertility counseling, and radiation • Anna Petryk, MD, Pediatric Endocrinology therapy; Telephone: 612-624-5409 Fax: 612-626-5262 □□Consultations with new and previously diagnosed Email: [email protected] Fanconi anemia patients; □□Individualized treatment planning for newly • Sarah Jane Schwarzenberg, MD, Pediatric diagnosed children and adults who do not need Gastroenterology transplant Telephone: 612-624-1133 Fax: 612-626-0639 □□Blood and marrow transplantation: expertise in Email: [email protected] unrelated marrow and umbilical cord transplantation • Frank Ondrey, MD, PhD, FACS, Otolaryngology and matched sibling donor transplantation for Telephone: 612-624-5900 Fanconi anemia with a 24-bed pediatric inpatient unit Email: [email protected] in the new Children’s Hospital and a 30-bed adult inpatient unit and state of the art outpatient bone • Rahel G. Ghebre, MD, Gynecologic Oncology marrow transplantation clinic; Telephone: 612-626-2613 Fax: 612-626-0665 Email: [email protected]
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University of Minnesota, Fanconi Anemia □□Stem cell transplantation for Fanconi anemia; stem Comprehensive Care Program, cont. cell collection and reinfusion; □□Disease based follow up post transplantation for □□Genetic counseling and coordination of Fanconi anemia; complementation group analysis, mutation screening, □□Coordinated referral to institutional subspecialists somatic mosaicism studies, and other genetic testing in cardiology, endocrinology, gastroenterology, options including prenatal genetic testing and pre- nephrology, hand and orthopedic surgery interested implantation genetic diagnosis (PGD); in the unique needs of persons with Fanconi anemia; □□Family support services including nurse coordination, and social work, genetic counseling, care-partners, and □□Psychology, social work, physical and occupational child and family life specialists to assist families therapy services. throughout the diagnostic, transplantation, and post- transplantation processes; □□Family umbilical cord blood banking; □□Ongoing research in stem cell biology, mosaicism, genetic correction of stem cells, mechanisms of bone marrow failure, and novel treatments with collaborators around the country.
The University of Texas Southwestern Medical Center Pediatric Bone Marrow Failure Program Children’s Medical Center Dallas Center for Cancer and Blood Disorders 1935 Medical District Drive Dallas, TX 75235 Telephone: 214-456-2382 or 214-456-6102 Email: [email protected] Nurse Coordinator: • Deborah J. Boger, MSN, RN, CPNP Bone Marrow Failure Nurse Practitioner Telephone: 214-456-6102 Fax: 214-456-8469 Medical Staff • Zora R. Rogers, MD, Professor of Pediatrics, Hematology-Oncology, Clinical Director, Bone Marrow Failure Program Email: [email protected]
• Andrew Koh, MD, Assistant Professor of Pediatrics, Hematology-Oncology, Director, Stem Cell Transplant Program Services Offered: □□Consultation and education for new and previously diagnosed patients and their families; □□Comprehensive clinical management of pediatric Fanconi anemia patients;
10 BONE MARROW DONOR REGISTRIES
DKMS Americas National Marrow Donor Program® / ® 33 East 33rd Street, Suite 501 Be The Match Registry New York, NY 10016 3001 Broadway Street NE, Suite 100 www.dkmsamericas.org Minneapolis, MN 55413-1753 Telephone: 1-866-340-DKMS (3567) www.marrow.org Email: [email protected] Telephone: 1-888-999-6743. Outside of the US: 612-632-3410 DKMS is committed to the fight against blood diseases Email: [email protected] like leukemia and Fanconi anemia, and strives to give every blood cancer patient a second chance at life by Be The Match helps patients with leukemia, lymphoma recruiting bone marrow donors from every race and and other diseases who need a marrow or umbilical ethnicity. We inspire hope by matching our donors with cord blood transplant. People can join the Be The patients from around the world who are in need of a Match Registry® – the world’s largest listing of bone marrow transplant. potential marrow donors and donated cord blood units – contribute financially and volunteer. Patients and DKMS: their families can also turn to Be The Match for support • is the world’s largest bone marrow donor center, with and resources before, during and after transplant. Be more than 3 million registered donors. The Match is operated by the National Marrow Donor • can register new bone marrow donors anywhere in Program® (NMDP), a nonprofit organization that the U. S. matches patients with donors, educates health care • performs HLA- A*, B*, C*, DR* high-resolution professionals and conducts research so more lives can be typing on every registered donor, minimizing the saved. Learn more at BeTheMatch.org/patient. search time for finding the best possible donor match for a patient. Services Offered: • offers doctors immediate search of our database. Be The Match has a team dedicated to supporting • does not require new donors to pay the $65 patients, caregivers and families before, during and after registration fee. transplant. We offer confidential one-on-one support, financial guidance and free educational resources. Our goal is to get you what you need, when you need it. We offer support in more than 100 languages, including Spanish bilingual staff and translated materials.
11 CORD BLOOD REGISTRIES
Cord Blood Registry® by donor stem cells (including Fanconi anemia) are Designated Treatment Program (DTP) encouraged to apply for CBR’s Designated Treatment Cord Blood Registry Program. If eligible, CBR will provide the collection kit and process and store the newborn’s cord blood and cord 1200 Bayhill Drive, 3rd Floor tissue sample for 5 years without any cost to the family. San Bruno, CA 94066 The family member must be a first-degree blood relative www.cordblood.com (full-sibling or parent) to the newborn and have an Telephone: 1-888-932-6568 oncologist/hematologist or other treating physician agree Cord Blood Registry® (CBR) is the world’s largest that the stem cells can be used for treatment. and most experienced family cord blood & tissue stem For more information on this program, please contact cell bank. Families wishing to store their newborn’s Cord Blood Registry at 1-888-932-6568 or visit www. umbilical cord blood stem cells for a family member cordblood.com. diagnosed with a life-threatening disease treatable
ENDOCRINOLOGY
Cincinnati Children’s Hospital Medical University of Minnesota, Fanconi Anemia Center, The Fanconi Anemia Comprehensive Comprehensive Care Program, University Care Center of Minnesota Medical Center and Amplatz 3333 Burnet Ave. Children’s Hospital Cincinnati, OH 45229 East Bldg Rm MB671 2450 Riverside Ave. • Susan R. Rose, MD, MEd, Professor of Pediatrics, Minneapolis, MN 55454 Pediatric Endocrinology Telephone: 513-636-4744 • Anna Petryk, MD, Pediatric Endocrinology Email: [email protected] Telephone: 612-624-5409 Fax: 612-626-5262 Email: [email protected] • Meilan M. Rutter, MD, Assistant Professor of Pediatrics, Division of Endocrinology Telephone: 513-636-4744 Email: [email protected]
12 GASTROENTEROLOGY
Cincinnati Children’s Hospital Medical University of Minnesota, Fanconi Anemia Center, The Fanconi Anemia Comprehensive Comprehensive Care Program, University Care Center of Minnesota Medical Center and Amplatz 3333 Burnet Ave. Children’s Hospital Cincinnati, OH 45229 East Building, 6th Floor 2450 Riverside Avenue • Jose Garza, MD, Assistant Professor, Department of Minneapolis, MN 55454 Gastroenterology, Hepatology and Nutrition. Telephone: 513-636-4385 Fax: 513-636-7805 • Sarah Jane Schwarzenberg, MD, Director, Pediatric Email: [email protected] Gastroenterology, Hepatology and Nutrition Telephone: 612-624-1133 Fax: 612-626-0639 Email: [email protected]
GENETIC COUNSELING
The Rockefeller University University of Minnesota, Fanconi Anemia 1230 York Avenue Box 182 Comprehensive Care Program, University New York, NY 10065 of Minnesota Medical Center and Amplatz • Erica Sanborn, MS, CGC, Certified Genetic Children’s Hospital Counselor* MMC 366, University of Minnesota Telephone: 212-327-8613 Fax: 212-327-8262 420 Delaware St., S.E. Email: [email protected] Minneapolis, MN 55455 Facebook: Fanconi Anemia Registry or Agata Telephone 612-273-2800 Smogorzewska (PI of IFAR) www.bmt.umn.edu/disease/fanconi-anemia
*Genetic counseling provided for IFAR participants • Heather Zierhut, MS, CGC, Certified Genetic and their family members. Please see page 6 for more Counselor information about the IFAR. Telephone: 612-626-6743 Fax: 612-273-2919 Email: [email protected]
13 GYNECOLOGY
Eunice Kennedy Shriver National Institute of University of Minnesota, Fanconi Anemia Child Health and Human Development Comprehensive Care Program, University Bldg 10, CRC, Room 1-3140 of Minnesota Medical Center, Amplatz 10 Center Dr. MSC 1109 Children’s Hospital, Fairview Bethesda, MD 20892-1109 MMC 366, University of Minnesota • Pamela Stratton, MD, Chief, Gynecology Consult 420 Delaware St., S.E. Service, Program in Reproductive and Adult Minneapolis, MN 55455 Endocrinology • Rahel G. Ghebre, MD, Gynecologic Oncology Telephone: 301-496-9079 Fax: 301-480-6703 Telephone: 612-626-2613 Fax: 612-626-0665 Email: [email protected] Email: [email protected]
Memorial Sloan-Kettering Cancer Center 1275 York Ave. New York, NY 10021
• Mercedes Castiel, MD, Gynecology Telephone: 212-639-5060 Email: [email protected]
HAND SURGEONS
Ann Van Heest, MD, Professor Cincinnati Children’s Hospital Medical • University of Minnesota, Department of Center, The Fanconi Anemia Comprehensive Orthopaedic Surgery Care Center 2450 Riverside Avenue, Rm R200 3333 Burnet Ave. Minneapolis, MN 55454 Cincinnati, OH 45229 Telephone 612-273-8086 Email: [email protected] • Roger Cornwall, MD, Assistant Professor of Pediatrics, Division of Orthopaedics (Hand Surgery) • Gillette Children’s Specialty Healthcare Telephone: 513-803-HAND Fax: 513-636-3928 200 University Avenue East Email: [email protected] St. Paul, MN 55101 Telephone: 651-291-2848 • Shriners Hospital for Children, Twin Cities Unit 2025 East River Parkway Minneapolis, MN 55414 Telepone: 612-596-6100 Services Offered: □□Hand and upper extremity surgery in the pediatric population
14 HAND SURGEONS, cont’d
Shriners Hospital for Children Services Offered: □□Evaluation and treatment of FA children with upper 3551 North Broad St. limb and other orthopedic problems; Philadelphia, PA 19140 □□Surgical expertise in hand and upper limb differences; • Scott Kozin, MD, Professor, Orthopedic Surgery, □□Occupational therapy evaluation and treatment, Temple University, Hand & Upper Extremity Surgeon including splints, adaptive equipment, and other Telephone: (215) 430-4034 needs. Email: [email protected]
• Linda Filipone, Nurse Coordinator Telephone: (215) 430-4074 Email: [email protected]
• Maureen Fulcher, Nurse Assistant Telephone: (215) 430-4204 Email: [email protected]
OPHTHALMOLOGY
Boston Foundation for Sight 464 Hillside Ave., Suite 205 Needham, MA 02494 www.bostonsight.org
• Nancy Lemist, New Patient Affairs Coordinator Telephone: 781-726-7501 Fax: 781-726-7310 Email: [email protected]
Boston Foundation for Sight is a non-profit organization dedicated to helping patients whose eye functions are impaired by damaged/diseased corneas. Services Offered: Custom fitting of the Boston Ocular Surface Prosthesis. This device acts like a corneal liquid bandage, able to provide significant relief to those patients who are unresponsive to low risk treatments for severe dry eyes due to graft versus host disease, etc. This service is offered to all who may benefit, regardless of their ability to pay.
15 OTOLARYNGOLOGY (Ear, Nose, and Throat) and HEAD & NECK CANCER
Cincinnati Children’s Hospital Medical Memorial Sloan-Kettering Cancer Center Center, The Fanconi Anemia Comprehensive 1275 York Ave. Care Center New York, NY 10021 3333 Burnet Ave. • Bhuvanesh Singh, MD, PhD, Head and Neck Cincinnati, OH 45229 Cancer Telephone: 212-639-2024 • Michael Rutter, MD, Professor of Pediatrics, Email: [email protected] Division of Otolaryngology Telephone: 513-636-4881 Fax: 513-636-8133 Clinical Interests: All head and neck cancers, with a Email: [email protected] particular focus on cancers of the mouth (tongue, floor of mouth, and buccal mucosa), skull base, and salivary and Cornell University, Weill Medical College thyroid glands, as well as melanomas and skin cancers of the head and neck region. Department of Otolaryngology-Head and Neck Surgery 1305 York Avenue, 5th Floor National Institutes of Health New York, NY 10021 NIDCD/NIH • David Kutler, MD, Associate Professor 10 Center Drive, Building 10 Telephone: 646-962-4323 Bethesda, MD 20892 Email: [email protected] • H. Jeffrey Kim, MD, Senior Staff Clinician, Head Clinical Interests: Head & Neck Cancer in Fanconi and Neck surgery Branch, National Institute on Anemia Patients, Tongue Cancer, Disorder of Nasal Deafness and other Communication Disorders, NIH, Sinus, Skull Base Surgery, Pharynx, Thyroid Cancer, Associate Professor, Department of Otolaryngology Benign Tumor of Oral Cavity, Thyroid Surgery, Head (Ears, Nose, Throat), Head and Neck Surgery, and Neck Cancer Surgery, and Salivary Disorder. Georgetown University Hospital Telephone: 301-496-5369 Fax: 301-402-0409 Johns Hopkins Medical Institutions Email: [email protected] 601 N. Caroline Street, 6th Floor Clinical Interests: Dizziness, Hereditary Hearing Loss, Baltimore, MD 21287-0910 Balance Disorders, Acoustic Neuroma and skull base surgery, Otosclerosis, Cholesteatoma • Joseph Califano, MD, Professor, Otolaryngology, Head & Neck Surgery & Head & Neck Research • Carter Van Waes, MD, PhD, Chief Head and Neck Division Surgery Branch; Clinical Director, National Institute Telephone: 410-955-6420 Fax: 410-955-8510 on Deafness and other Communication Disorders Email: [email protected] Telephone: 301-402-4216 Fax: 301-402-1140 Email: [email protected] Clinical Interests: Tumors of the oral cavity, larynx, pharynx, neck, skull base, salivary glands, Clinical Interests: Diagnosis and investigational thyroid cancer, premalignant conditions of the upper treatment of head and neck mucosal lesions and cancers. aerodigestive tract, and unknown primary head and neck squamous cell carcinoma, skin cancer and melanoma.
16 OTOLARYNGOLOGY and HEAD & NECK CANCER, cont’d
University of Chicago Medical Center University of Pittsburgh School of Medicine 5841 S. Maryland Avenue Eye & Ear Institute Chicago, IL 60634 Suite 300 • Ezra Cohen, MD, Associate Professor of Medicine 203 Lothrop Street Telephone: 773-702-4400 Fax: 773-702-0963 Pittsburgh, PA 15213 [email protected] Email: • Jennifer Rubin Grandis, MD, FACS, Professor Clinical Interests: Head and Neck Cancer, Lung Telephone: 412-647-2100 Cancer, Esophageal Cancer Email: [email protected]
• Everett Vokes, MD, John E. Ultmann Professor Specialty: Otolaryngology of Medicine, Chairman, Department of Medicine, Sub Specialty: Head & Neck Surgery Physician-in-Chief, University of Chicago Medical Center and Biological Sciences Telephone: 773-702-9306 Fax: 773-702-4427 University of Texas Health Science Center Email: [email protected] at Houston Department of Otorhinolaryngology – Head & Neck Clinical Interests: Hematology, Oncology, Head and Surgery Neck Cancer, Lung Cancer, Esophageal Cancer 6400 Fannin, Suite 2700 Houston, Texas 77030 University of Cincinnati, College of Medicine • Ron J. Karni, MD, Assistant Professor of Department of Otolaryngology Otolaryngology, Assistant Professor of Medical 234 Albert Sabin Way Oncology ML 0528 Telephone: 713-486-5000 and 713-500-5410 Cincinnati, OH 45267 Email: [email protected] • Keith A. Casper, MD , Assistant Professor Clinical Interest : Head & Neck Cancer, Robotic and Telephone: 513-558-1890 Fax: 513-558-4477 Minimally-Invasive Surgery of the Head & Neck Email: [email protected] • Keith M. Wilson, MD Services Offered: Management of Head & Neck • Lee A. Zimmer, MD Cancer including surgery, chemotherapy, and radiation oncology. University of Minnesota, Fanconi Anemia Comprehensive Care Program, University University of Texas MD Anderson of Minnesota Medical Center and Amplatz Cancer Center Children’s Hospital 1515 Holcombe Blvd., Unit 441 MMC 396, University of Minnesota Houston, TX 77030 420 Delaware St., SE Minneapolis, MN 55455 • Erich Madison Sturgis, MD, MPH, FACS, Professor of Surgery, Professor of Epidemiology • Frank Ondrey, MD, PhD, FACS, Associate Telephone: 713-792-5432 Fax: 713-794-4662 Professor of Otolaryngology, Director, Molecular Oncology Program Clinical Interests: Head & Neck Cancer, Salivary Telephone: 612-624-5900 Carcinoma, and Thyroid Cancer, Human Papillomavirus, Email: [email protected] and Sarcomas of the Head and Neck
Clinical Interests: Head and Neck Cancer, Precancerous Services Offered: Multidisciplinary evaluation and Mouth and Throat Lesions, Comprehensive General treatment of head and neck tumors. Otolaryngology, and Facial Trauma
17 PRE-IMPLANTATION GENETIC DIAGNOSIS
The Genesis Genetics Institute, Services Offered: Genomic Technology Center □□Pre-implantation genetic diagnosis for any known Fanconi anemia mutations with or without HLA Genomics Center at Samaritan - A1100 matching for sibling bone marrow donation. 5555 Conner □□Pioneers in PGD; first laboratory in the world to Detroit, MI 48213 successfully perform PGD for FA and HLA matching. www.genesisgenetics.org Highly accurate state-of-the-art testing methods. • Mark Hughes, MD, PhD □□Able to test for chromosomal abnormalities in Telephone: 313-579-9650 Fax: 313-544-4006 addition to FA and HLA on a single cell from an Email: [email protected] embryo. □□Free consultations with genetic counselors (in-person • Shannon DeWall, MS, CGC, Certified Genetic or via telephone). Counselor □□Travel to our facility is not necessary as we Telephone: 313-579-9650 Fax: 313-544-4006 collaborate with hundreds of in vitro fertilization Email: [email protected] clinics all over the world.
• Lauren Isley, MS, Genetic Counselor Telephone: 313-579-9650 Fax: 313-544-4006 Services Offered: □□Pre-pregnancy/pre-implantation diagnosis of FANC A, C, G. Helping a couple begin a pregnancy knowing their baby will not have Fanconi anemia; □□Extensive experience in Fanconi anemia mutation testing with HLA identity matching for families desiring a healthy baby and cord blood stem cells that are a perfect match to their Fanconi anemia-affected child needing stem cell transplantation; □□Personalized treatment regimens coordinated with the family’s hematologist, geneticist, obstetrician, and (if necessary) transplantation doctors. The FA family does not need to travel anywhere for these PGD services. Our clinic collaborates with the leading molecular biologists in Fanconi anemia research, with over 230 in vitro fertilization programs, and with internationally respected Fanconi anemia transplantation experts. The Reproductive Genetics Institute 2825 N Halsted St. Chicago, IL 60657 Telephone: 773-472-4900 Fax: 773-871-5221 www.reproductivegenetics.com Email: [email protected]
• Andria Besser, BEd, MS, CGC • Christina Lavin, MS, CGC • Annie McRae, MS, CGC • Stephanie Miller, MGC, CGC
18 US Fanconi Anemia Testing Resources
19 US Fanconi Anemia Testing Resources
Institution Test Cincinnati Children’s Hospital DEB/MMC diagnostic testing using blood or bone marrow samples Medical Center Fanconi Anemia Comprehensive Complementation analysis for A, B, C, E, F, G, L, I (I analysis via skin testing only) Care Center Bone Marrow Failure and FANCD2 (via western blot). Testing done with blood, skin biopsy or amniocytes. Clinic Note: This testing must be requested by clinicians or researchers. Cincinnati, OH Molecular testing to find specific mutations for patients with FANCA, FANCC, or • Tracy Ashworth, RN, Care Manager FANCG 513-636-3218 Toll-free: 1-800-344-2462, ext. 3218 Prenatal diagnostic molecular testing for FANCA, FANCC, or FANCG [email protected] Carrier detection testing for patients with a family history of FA, from complementation groups FANCA, FANCC, or FANCG
Dana-Farber Cancer Institute DEB/MMC diagnostic testing using blood, bone marrow, or skin fibroblasts Boston, MA • Alan D’Andrea, MD 617-632-2080 [email protected] FANCD2 western blot (Research) • Lisa Moreau, MS 617-632-6302 [email protected]
Indiana University School of Complementation Group (Research): Use of retroviruses for A, B, C, D2, E, F, G, I, Medicine J, L, M, N, O, P in primary T-cells, bone marrow or fibroblast cells or in lymphoblast Wells Center, Riley Hospital for cell lines (LCL) Children Indianapolis, IN • Helmut Hanenberg, MD 317-278-9290 or 274-2980 FANCD2 Western Blotting (Research) Fax 317-274-2852 [email protected]
Indiana University School of Medicine Cytogenetic Lab, Dept. of Medical & Diagnostic testing: Cytogenetic breakage studies with DEB on peripheral blood Molecular Genetics Indianapolis, IN
• Gail H. Vance, MD Mutation testing for FANCA, FANCC, FANCG Collaborative mutation testing and 317-274-2243 research with Gail Vance, MD, and Shaochun Bai, PhD, Medical & Molecular Fax 317-278-1616 Genetics, Indianapolis [email protected]
20 Institution Test Oregon Health & Science University Portland, OR DEB/MMC diagnostic testing • Susan Olson, PhD, FACMG (cytogenics) 503-494-5964 [email protected] Full Gene mutation analysis by Sanger sequencing for A, C, G, E, F as well as • Markus Grompe, MD (complementation) targeted sequencing of any exon is available. Deletion/ duplication analysis for 503-494-6888 FANCA is also available. Prenatal testing available for known mutations. Custom [email protected] sequencing for known mutations in Fanconi genes other than A, C, G, E, F is • C. Sue Richards, PhD, FACMG also available. (Please see GeneTests for further information at geneclinics.org). (molecular) NextGen sequencing comprehensive Fanconi panel is in development. Microarray 503-494-5400 comprehensive Fanconi deletion/duplication panel is in development (single-exon [email protected] resolution).
Prevention Genetics 3700 Downwind Drive Marshfield, WI 54449 FA gene sequencing and deletion / duplication analysis • Michael Chicka, PhD 715-387-0484 [email protected]
DEB diagnostic testing performed on blood, bone marrow, and skin fibroblasts (in Quest Diagnostics addition to prenatal testing): the doctor needs to specify DEB test, otherwise it Chantilly, VA is possible that a DNA carrier test for FANCC may be done. • Dr. Steven Schonberg Mutation analysis for FANCC (IVS4+4A>T and 322delG) 800-336-3718 x7285 Prenatal diagnosis
Quest Diagnostics San Juan Capistrano, CA • Joy Redman, MS, MBA, CGC Mutation analysis for FANCC (IVS4+4A>T and 322delG) 800-642-4657, ext. 4279 [email protected]
University of Minnesota Physicians Next Generation sequencing Outreach Laboratories • These methods will detect point mutations and small indel mutations (<18bp) Minneapolis MN • Copy number analysis for large deletions/duplications is under development • Bharat Thyagarajan, MD, PhD, Director and will be available in 2013 • Matt Bower, MS, CGC, Contact • Targeted mutation analysis available in families with known mutations- lab 612-624-8948 requires a positive control to develop primers. [email protected] • Analyzed genes: FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, FANCI, FANJ (BRIP1), FANCL, FANCM, FANCN (PALB2), FANCO(RAD51C), FANCP(SLX4)
Please note: • The laboratories listed are CLIA (Clinical Laboratories Improvement Amendments) certified • Estimated costs for diagnostic tests range from approximately $1,000 - $1,200. Check with your insurance company for coverage. The average turnaround time for testing results is about 10 working days. For more information, please contact the labs directly. • Additional testing information for Fanconi anemia is available at: http://geneclinics.org 1) Select “Gene Reviews” 2) Select “Search by Disease” 3) Enter “Fanconi anemia” into the text box
21 International Fanconi Anemia Treatment Resource Guide Editors’ Note and Disclaimer: The resource list provided in this guide is not comprehensive. Inclusion on the list does not imply endorsement by the Fanconi Anemia Research Fund, Inc. Families are encouraged to ask clinicians about their experience treating patients with Fanconi anemia.
with all diagnoses. This includes a comprehensive team AUSTRALIA of medical professionals working in disease-specific multidisciplinary teams to manage complex disorders The Children’s Hospital at Westmead with multisystem manifestations, such as Fanconi Sydney, NSW 2145 Australia anaemia. We offer comprehensive management of new www.chw.edu.au/prof/services/fanconi_anaemia and previously diagnosed FA patients, including:
• Dr. Julie Curtin, MD, PhD, Head Haematology □□Diagnostic testing and screening of siblings; Department □□Genetic counselling; coordination of gene testing via Telephone: 612- 9845-0000 Fax 612-9845-3332 overseas facilities to identify causative mutations in Email: [email protected] affected individuals; discussion of family planning options for future pregnancies, including prenatal • Professor Peter Shaw, Head BMT Service diagnosis or pre-implantation genetic diagnosis for Telephone: 612-9845-0000 Fax: 612-9845-2171 families with identified mutations; Email: [email protected] □□Orthopaedic management, including specialist hand, upper limb and congenital hand clinic; • Ida O’Brien, Clinical Nurse Consultant BMT Follow Up □□Haematological management; Telephone: 612- 9845-0000 Fax: 612-9845-2171 □□Blood and marrow transplantation: comprehensive Email: [email protected] program of related, unrelated and haploidentical • A/Prof. Meredith Wilson, Clinical Geneticist marrow, PBSC and cord blood transplant; □ Telephone: 612-9845-3273 Fax: 612-9845-3204 □Co-ordinated long term follow up and ongoing Email: [email protected] surveillance, with particular reference to BMT follow up, oral, Head and Deck Cancer screening and • A/Prof. David Little, Director Orthopaedic Research Endocrine follow-up (Chris Cowell); Telephone: 612- 9845-3352 Fax: 612- 9845-3180 □□Translational research on non-radiotherapy based Email: [email protected] BMT conditioning including a well-established drug pharmacokinetic laboratory for real time tailoring of • Professor Chris Cowell, Head Endocrinology drug doses in individual patients. Department Telephone: 612-9845-0000 Fax: 612-9845-3170 Email: [email protected] Princess Margaret Hospital for Children Roberts Road Subiaco • Dr. Carsten E. Palme, FRACS, Surgeon, Perth, Western Australia 6008 Otolaryngology Head & Neck Surgery Telephone: 612-9845-6025 Fax: 612-9893-7440 • Catherine Cole, MB BS, FRACP, FRCPA, Clinical Department of Surgery, Westmead Hospital Director of Bone Marrow Transplantation Program Email: [email protected] • Tina Carter, FRACP, PhD, Bone Marrow • Mark Schifter, Oral Medicine and Oral Pathology Transplant Physician Telephone: 612-9845-8716 Fax: 612-9845-5740 Telephone: 08-9340-8222 Email: [email protected] Email: [email protected] Services Offered: A 350-bed tertiary care paediatric institution, providing comprehensive care for the majority of children in NSW
22 Sydney Children’s Hospital specialized knowledge in FA having trained in a leading US FA transplant centre and the centre collaborates with Cord & Marrow Transplant Program the International Fanconi Anaemia Registry (Dr. Arleen Centre for Children’s Cancer & Blood Disorders Aurbach). Sydney Children’s Hospital High St, Randwick Sydney, NSW, 2031 Australia AUSTRIA
• Dr. Tracey O’Brien, Director, Cord & Marrow St. Anna Children’s Hospital Transplant Program, Centre for Children’s Cancer and Blood Disorders Department of Hematology and Oncology Telephone: 02-93821733 Fax: 02-93821789 Kinderspitalgasse 6 Email: [email protected] Vienna A – 1090 Austria • Dr. Susan Russell, Head Haematology, Centre for Children’s Cancer and Blood Disorders • Prof. Wolfgang Holter, Medical Diretor Telephone: 02-93821733 Fax: 02-93821789 Email: [email protected] Email: [email protected] Services Offered: • A/Prof. Richard Cohn, Head, Oncology, Centre for Stem cell transplants for FA patients. Children’s Cancer and Blood Disorders Telephone: 02-93821731 Fax: 02-93821789 Email: [email protected] BRAZIL • Anne Senner, BMT Co-ordinator, Cord & Marrow Transplant Program, Centre for Children’s Cancer Hospital de Clinicas, University of Parana and Blood Disorders Telephone: 02-93821733 Fax: 02-93821789 Serviço de Transplante de Medula Óssea – 15º andar Email: [email protected] Rua General Carneiro, 181 – 15º andar 80060-900-Curitiba-PR, Brazil • Lucy Maurice, BMT Clinical Nurse Consultant, Cord & Marrow Transplant Program, Centre for • Carmem Bonfim, MD, Director of Pediatric Stem Children’s Cancer and Blood Disorders Cell Transplant Program, Stem Cell Transplant in Genetic Diseases, Coordinator of Fanconi Anemia Telephone: 02-93821655 Outpatient Clinic Email: [email protected] Telephone: 55-41-3360-1000 Fax 55-41-3360-1015 Services Offered: Email: [email protected] Sydney Children’s Hospital is a large tertiary paediatric • Ricardo Pasquini, MD, PhD, Senior Professor, hospital with comprehensive multidisciplinary services. Federal University of Parana We offer evaluation of new and previously diagnosed Telephone: 55-41-3360-1000 Fax: 55-41-3360-1015 patients with specialists in haematology, bone marrow Email: [email protected] transplantation, genetics, endocrinology, nephrology, surgery and adolescent medicine. We offer on site DEB Services Offered: testing, facilitation of DNA mutation testing, family □□Comprehensive clinic for FA patients; genetic screening and referral for pre-implantation □□Out-patient unit for diagnostic procedures and genetic diagnosis. In addition, comprehensive social treatment; work, psychology, family support networks are available. □□Cytogenetics laboratory performing DEB The transplant program is one of the oldest and largest chromosomal breakage testing and conventional national programs with over 900 transplants performed cytogenetics of bone marrow; since establishment of the in 1975. The centre is a □□Transplant unit performing related and unrelated bone national leader in unrelated marrow and cord transplants marrow and umbilical cord transplants. with particular interest in transplant for non-malignant □□Mutation analysis ( FANCA, C and G) and FANCD2 diseases. The program offers a well established multi- by western blot. disciplinary comprehensive pre- and post-transplant service for patients with FA. The centre director has
23 CANADA COLOMBIA
The Hospital for Sick Children, Clinica Las Americas The University of Toronto Diagonal 75 B #2 A80 Ofic. 520 555 University Avenue Medellin Toronto, Ontario, Canada M5G 1X8 Antioquia, Colombia
• Yigal Dror, MD, FRCP(C), Associate Professor • Dr. Amado Karduss, Adult Hematology/Stem Cell of Paediatrics; Director, Marrow Failure and Transplantation Myelodysplasia Program; Division of Hematology/ Telephone: 57 4 3409314 Oncology; Scientist, Program in Cell Biology, Email: [email protected] Research Institute • Dr. Yadira Coll, Pediatric Hematology Telephone: (416) 813-5630 Fax: (416) 813-5327 Telephone: 57 4 3409314 Email: [email protected] Email: [email protected] • Adam Gassas, MBChB, MSc, MRCP, DCH, Services offered: MRCPCH, Associate Professor of Pediatrics; Evaluation, medical treatment, FA stem cell Section of Blood & Marrow Transplant, Division of transplantation. Hematology/Oncology Telephone: (416) 813-8227 Fax: (416) 813-5327 Email: [email protected] Dr. Adriana Linares Princess Margaret Hospital Telephone: (571) 343-6600 (extension 1364, 1362, or 1280) Ontario Cancer Institute Email: [email protected] University of Toronto 610 University Ave • Clinica Colsubsidio Toronto, Ontario, M5G 2M9, Canada Carrera 24 # 63 - 50 • Jeffrey H. Lipton, FRCPC, MD, PhD, Leukemia Bogotá, Colombia and Allogeneic Stem Cell Transplant Programs, PMH • National University of Colombia Professor of Medicine, University of Toronto Carrera 45 No 26-85 Telephone: (416) 946-2266 Fax: (416) 946-6585 Building Uriel Gutierrez Email: [email protected] Bogotá, Colombia University of Manitoba Services Offered: ON2021a-675 McDermot Ave. Pediatric hematology oncology, clinical evaluation, Winnipeg, Manitoba, Canada R3E 0V9 medical treatment and therapy.
• John J. Doyle, MD, FRCPC, FAAP, Associate Professor, Dept. of Pediatrics and Child Health, HematoOncologos S.A. University of Manitoba; Head, Pediatric Hematology/ Calle 5B 5 #38-10 Oncology/BMT Cali, Valle Telephone: (204) 787-4135 Fax: (204) 786-0195 Colombia Email: [email protected] and jdoyle2@ hsc.mb.ca • Oscar Ramirez W. MD MPhil Telephone:+57-2-5561588 or mobile 317-4315011 Email: [email protected] or CHINA [email protected] Mingfeng Zhao, MD, PhD Services Offered: Pediatric hematology oncology, Hematopathology, Tianjin First Central Hospital clinical evaluation, medical therapy, stem cell No. 24, Fukang Road, Nankai transplantation related and unrelated. District, Tianjin China 24 Services Offered (primarily for children): CZECH REPUBLIC □□Bone marrow, peripheral stem cell and cord blood transplants; University Hospital Motol □□FA diagnosis: breakage tests, cell cycle, FancD2 Department of Paediatric Haematology & Oncology V analysis, mosaicism on skin biopsy, retroviral group Uvalu, 84 complementation, bone marrow karyotype (Dr. Jean 150 06 Prague Soulier); □ Czech Republic □Gene sequencing on grouped patients, in collaboration with Institut Curie (Pr. Dominique • Prof. Petr Sedlacek Stoppa-Lyonnet); Telephone:+420 2 2443 6552 Fax:+420 2 2443 6519 □□Head and neck cancer evaluation and treatment (Dr. Email: [email protected] Francis Pascal and Dr. Arnaud Rigolet); □□Cell therapy laboratory (Dr. Jerome Larghero); Services Offered: □□Gene therapy laboratory (Dr. Philippe Leboulch). Stem cell transplants for FA patients. Hôpital Saint-Louis DENMARK 1, avenue Claude Vellefaux 75010 Paris, France University Hospital of Aarhus at Skejby • Gérard Socié, MD, PhD, Department of Hematology Transplantation Brendstrupgaardsvej 100 Telephone direct: 33-1-4249-9824 DK-8200 Aarhus N Secretary: 33-1-4249-9639 Fax: 33-1-4249-9636 Denmark Email: [email protected]
• Niels Clausen, MD, Department of Pediatrics • Thierry Leblanc, MD, Department of Pediatric Telephone: 45-7845-1673 Hematology Email: [email protected] Telephone direct: 33-1-4249-9725 Services Offered: Secretary: 33-1-4249-9721 Fax: 33-1-4249-9823 □□Diagnosis, treatment and follow-up for children with Email: [email protected] Fanconi anemia. • Jean Soulier, MD, PhD, Genome Rearangements and Cancer Group, Hematology Laboratory Telephone: 33-1-4249-9891 Fax: 33-1-4249-4027 FRANCE Email: [email protected]
• Arnaud Rigolet, MD, Department of Oral and Hôpital Robert DEBRE Maxillofacial Surgery 48, boulevard Sérurier Telephone: 33-1-42-49-41-92 Fax: 33-1-1-49-49-91-92 75935 Paris cedex 19 Email: [email protected] France Services Offered (primarily for teens and adults): • Thierry Leblanc, MD, Department of Pediatric □□Bone marrow, peripheral stem cell and cord blood Hematology transplants; Telephone direct: 33-1-4003-4185 □□FA diagnosis: breakage tests, cell cycle, FANCD2 Secretary: 33-1-7128-2535 Fax: 33-1-4003-4740 analysis, mosaicism on skin biopsy, retroviral group Email: [email protected] complementation, bone marrow karyotype (Dr. Jean Soulier); Jean-Hugues Dalle, MD, PhD • , Department of □□Gene sequencing on grouped patients, in Pediatric Hematology . collaboration with Institut Curie (Pr. Dominique Telephone direct: 33-1-4003-1241 Stoppa-Lyonnet); Secretary: 33-1-4003-5388 Fax: 33-1-4003-4740 □□Head and neck cancer evaluation and treatment Email: [email protected] (Dr. Francis Pascal and Dr. Arnaud Rigolet); □□Cell therapy laboratory (Dr. Jerome Larghero); □□Gene therapy laboratory (Dr. Philippe Leboulch).
25 GERMANY University of Tuebingen Children’s University Hospital Charité, Campus Virchow Klinikum, Department of Hematology/Oncology and General Pediatrics University Medicine, Berlin Hoppe-Seyler-Strasse 1 Children’s Hospital 72076 Tuebingen, Germany Augustenburger Platz 1 13353, Berlin, Germany • Prof. Rupert Handgretinger, MD, Chairman Telephone : 49-7071-298-4744 Fax: 49-7071-294713 • Wolfram H. Ebell, MD Email: [email protected] Telephone: 49-30-450-566-014 Fax: 49-30-450-566-919 Services Offered: □ Email: [email protected] □Evaluation of new patients; □□Hematopoietic Stem Cell Transplantation from HLA- Services Offered: matched siblings, matched unrelated donors and □□Pediatric bone marrow transplant service; haploidentical family donors; □□Stem cell laboratory; □□Co-transplantation of bone marrow with □□Stem cell bank; mesenchymal stem cells (MSC) to enhance □□Cytogenetic laboratory; engraftment and to prevent Graft-versus-Host- □□German Fanconi anemia registry. Disease (GvHD); □□Extracorporal photopheresis (ECP) in small children for the prevention and treatment of GvHD; Heinrich Heine University Medical Center □□Adoptive transfer of virus-specific T-cells to prevent Children’s Hospital viral infections post-transplant; Moorenstrasse 5 □□Long-term follow-up studies (growth, endocrinology, 40225 Düsseldorf, Germany quality of life).
• Eunike Velleuer, MD, Department of Pediatric Hematology, Oncology and Clinical Immunology Telephone: 49-211-811-7662 Fax: 49-211-811-7634 INDIA Email: [email protected] Apollo Specialty Hospital • Arndt Borkhardt, MD, Director, Department 320 Padma Complex of Pediatric Hematology, Oncology and Clinical Anna Salai Immunology Chennai 600 035, India Telephone: 49-211-811-7680 Fax: 49-211-811-6206 [email protected] Email: [email protected] • Sheila Mohan, MBBS, DCH, PhD Services Offered: Telephone: 91-44-2491-2943 □□Cooperation with Ruud Brakenhoff, University Mobile: 91-92-8211-4661 of Amsterdam, on “Progression of FA-SCC and • Revathi Raj, MBBS, DCH, MRCP (Path) Development of a Non-Invasive Screening Method Telephone: 91-44-2433-1741, ext. 2509 for Precursor Lesions”; □□Close cooperation with the two German FA family Services Offered: support groups: Deutsche FA-Hilfe e.V. (Ralf □□Complete evaluation, treatment and follow-up of new Dietrich) and Aktionskreis Fanconi Anemia e.V. and previously diagnosed FA patients; □□Provide information and assistance for physicians in the care of their FA patients; □□Cancer screening and specialist consultations; □□Diagnostic testing (MMC test) and screenings of siblings; □□Complementation grouping (in process of development); □□Genetic counseling; □□Stem cell transplantation; □□Maintenance of national database: Registry for Fanconi Anemia in India (REFAIN). 26 National Institute of Immunohaematology Services Offered: (ICMR) □□Pediatric and Adult FA patients can be seen by specialists in pediatric and adult medicine; 13th floor, New Multistoried Building □□Pediatrics Stem Cell Transplantation, 11-bed ward; K.E.M. Hospital Campus, Parel □□Adults Stem Cell Transplantation, 25-bed ward; Mumbai 400012, India □□Stem cell laboratory; • Dr. V. Babu Rao □□Cord Blood Bank; Telephone: 91-22-24138518 or 24138519 □□Cytogenetic laboratory; Fax: 91-22-24138521 □□Complete evaluation, treatment and follow-up of new Email: [email protected] and previously diagnosed FA patients; □□Diagnostic testing (DEB and MMC test) and Services Offered: screenings of siblings; □□Chromosomal breakage study using MMC and DEB □□Genetic counseling; test; □□Matching sibling, haploidentical and cord blood stem □□Cytogenic study from bone marrow and FISH cell transplants; analysis; □□HLA registry (Iranian Stem Cell Donor Program, □□FANCD2 western blot. ISCDP).
Sahyadri Hospital Pune’s Sahyadri Hospital (Deccan Gymkhana branch) ISRAEL 30C, Erandawane, Karve Road Pune – 411 004, Maharashtra International Center for Cell Therapy & India Cancer Immunotherapy (CTCI) • Dr. Shashikant Apte Weizman Center, Top Ichilov Telephone: +67213000 or +25403040 14 Weizman Street Email: [email protected] Tel Aviv 64239, Israel
• Shimon Slavin, MD, Professor of Medicine, Scientific & Medical Director of CTCI IRAN Telephone: 972-77-777-9255 Fax: 972-77-777-9247 Email: [email protected] Hematology-Oncology and SCT Research Services Offered: Center Allogeneic stem cell transplantation using well Tehran University of Medical Sciences tolerated reduced intensity conditioning towards Shariati Hospital minimizing the risk of the transplant procedure by using Kargar Ave. nonmyeloablative stem cell transplantation (NST). Stem 14114, Tehran, Iran cell transplantation can also be considered from half- http://horcsct.tums.ac.ir matched (haploidentically mismatched) family member while avoiding the risk of graft-versus-host disease. • Ardeshir Ghavamzadeh, MD, Professor of Medicine, Adult Hematologist Oncologist, President Hannah Tamary, MD of Hematology-Oncology and SCT Research Center Telephone: 98-21-84902635 Fax: 98-21-88004140 Schneider Children’s Medical Center of Israel Email: [email protected] 14 Kaplan Street PO Box 559 • Amir Ali Hamidieh, MD, Associate Professor Petach Tikvah 49202 of Medicine, Pediatric Hematologist Oncologist, Israel Director of Fanconi Anemia Transplant Program Telephone: 98-21-84902645 Fax: 98-21-88004140 Email: [email protected]
27 □□Experimental protocol for treatment of FA patients ITALY with bone marrow failure and no HSC donor available, using Etanercept (Anti TNF-alpha); G. Gaslini Children’s Institute Eudract Code (Italian Ministry of Health Registration Largo G.Gaslini 5 Code) 2005-003096-20. This study has now been 16147 Genova, Italy published.
• Carlo Dufour, MD, Head, Hematology Unit, G. University of Pavia Gaslini Children’s Institute Telephone: 39-010-5636-694 Fax: 39-010-5636-714 Pediatric Haematology and Oncology Unit Email: [email protected] Fondazione IRCCS, Policlinico San Matteo Piazzale Golgi, 2 • Johanna Svahn, MD, Hematology Unit, G. Gaslini 27100, Pavia, Italy Children’s Institute Telephone: 39-010-5636-694 Fax: 39-010-5636-714 • Prof. Franco Locatelli, MD Email: johanna [email protected] Telephone: 39-0382-502607 Fax: 39-0382-501251 Email: [email protected] • Enrico Cappelli, PhD, Hematology Laboratory, G. Gaslini Children’s Institute Services Offered: □ Telephone: 39-010-5636-693 Fax: 39-010-5636-714 □Hematopoietic Stem Cell Transplantation from Email: [email protected] HLA-identical or disparate family donors and from unrelated volunteers; Services Offered: □□Stem cell laboratory; □□Primary diagnosis with DEB test, Cell Cycle analysis □□Cell therapy laboratory; and MMC sensitivity, D2 Ubiquitination (WB) on □□Stem cell bank; peripheral blood cells and fibroblasts; □□Cytogenetic laboratory; □□FA complementation group analysis by retroviral □□Molecular diagnosis of Fanconi anemia. vectors on peripheral blood T-cells, bone marrow cells, fibroblasts and B-cell lines for groups A, C, G, D2; □□Collaboration with Dr. Helmut Hannenberg (Riley JAPAN Hospital for Children, Indianapolis, Indiana) and Dr. Juan Bueren (CIEMAT, Madrid, Spain) for remaining FA complementation group analyses; Tokai University □□Collaboration with Dr. Anna Savoia, IRCSS Burlo Department of Cell Transplantation and Regenerative Garofolo, University of Trieste Italy, for molecular Medicine diagnosis of FA; Shimokasuya 143 □□Haematopoiesis Laboratory (cell cultures, cytokine Isheara, Kanagawa, 259-1193, Japan hypersensitivity tests); • Hiromasa Yabe, MD, Stem Cell Transplantation □□Cytogenetic Laboratory; Telephone: 81-463-93-1121 Fax: 81-463-95-9567 □□Collaboration with European Centres of the Email: [email protected] EBMT (European Society for Blood and Marrow Transplantation) for data collection and retrospective • Miharu Yabe, MD, Stem Cell Transplantation studies. Telephone: 81-463-93-1121 Fax: 81-463-93-8607 □□Close scientific collaboration with Dr. Grover Bagby Email: [email protected] (OHSU, OR, USA) on pathogenetic mechanism of • Shunichi Kato, MD, Stem Cell Transplantation marrow failure in FA; Telephone: 81-463-93-1121 Fax: 81-463-91-6235 □□Compehensive care and long-term follow-up of Email: [email protected] new and previously diagnosed patients, including: hematopoietic stem cell transplantation with related, Services Offered: unrelated, matched or mismatched donors (Dr. □□Evaluation of new and previously diagnosed patients; Edoardo Lanino, HSC Unit, G. Gaslini Children’s □□Expertise in pediatric and adult stem cell Hospital), head and neck cancer evaluation, transplantation from matched sibling donor or endocrinology, orthopedic and nephrology clinic, alternative donor; psychological support; □□Special interest in new conditioning regimens for □□Ante-natal diagnosis available for patients in whom patients with FA to improve long-term quality of life; mutations are known; □□Umbilical cord blood bank and cell processing center. 28 KENYA MEXICO
Kenyatta National Hospital Centro Medico Nacional “La Raza” Haematology & Blood Transfusion Unit - Department of Instituto Mexicano Del Seguro Social Human Pathology Division de Trasplantes University of Nairobi, School of Medicine Seris y Zaachila Nairobi Col. La Raza, 02990 Mexico DF, Mexico • Dr. Grace W. Kitonyi MBChB, FRCPath - Haematologist/ Haematopathologist • Dr. Inès Montero Ponce Telephone: +254 20 2721815 Email: [email protected] Mobile phone: +254722385336 • Dr. Ana Lilia Hernàndez Moreno Email: [email protected] Cc: [email protected] Prof. Dr. Clara Gorodezky Services Offered: Head of The Department of Immunology & □□Diagnosis and management of all patients with FA Immunogenetics, InDRE, including counselling of families Secretary of Health □□Coordination of consultations with other sub- Carpio 470, México DF, 11340, México specialities for management of FA related disorders President of the Board of The Fundacion Comparte Vida, A.C. Tel (52 55) 5341 4569; Fax:(52 55) 5341 4418 LEBANON Email: [email protected]; cgorodea@ fundacioncompartevida.org.mx St. George Hospital University Medical www.fundacioncompartevida.org.mx Center Services Offered: Dept of Pediatrics and Pediatric Hematology/Oncology □□HLA Lab, ASHI accredited laboratory. Access to OFFICE 117 DONORMO – Mexican Unrelated Bone Marrow Ashrafieh, Beirut, Lebanon Donors Registry as well as the BACECU– Mexican Unrelated Cord Blood Bank; • Dr. Roula Farah □□HLA typing and all related studies for solid organ Cell phone: 961-3-681-309 transplantation; Email: [email protected] □□Search DONORMO, BACECU, and BMDW, etc. and Services Offered: perform all the workup; □□Complete clinical evaluation, treatment and follow-up □□Referrals to physicians for Fanconi anemia patients; of new and previously diagnosed FA patients; □□We work with all the hospitals in Mexico and with □□Diagnostic testing (Chromosomal breakage with many TC abroad; Mitomycin C, Karyotype, bone marrow examination, □□We belong to BMDW and are a Coop Registry of etc.); NMDP. □□Transfusion of irradiated blood and platelet products if needed; □□Support with financial coverage for diagnostic studies if patient cannot afford it; □□Information, education and assistance to families of patients with FA and referring physicians; □□Genetic counseling; □□Maintenance of The National Fanconi anemia registry.
29 Contacts: NETHERLANDS • Josephine C. Dorsman, PhD Email: [email protected] Leiden University Medical Center • Hans Joenje, PhD Department of Pediatrics/BMT unit Email: [email protected] PO Box 9600 • Johan P. de Winter, PhD Leiden, 2300 RC, The Netherlands Email: [email protected] • Arjan C Lankester, MD, PhD, Program Director Services Offered: Stem Cell Transplantation, Department of Pediatrics/ Diagnosis: BMT unit □□Diagnosis is by chromosomal breakage analysis, Telephone: +31-71-5264131 Fax: +31-71-5248198 including mosaicism; Email: [email protected] □□Molecular diagnosis by mutation screening of all known FA genes; UMC Utrecht □□Prenatal DNA testing (if mutations are known). Kinderarts - Hematoloog Research: Wilhelmina Kinderziekenhuis □□Identification of the genes responsible for FA and Postbus 85090 “overlapping” conditions; 3508 AB Utrecht □□Understanding the FA pathway and how a defect in Huispostnr KC 03.063.0, The Netherlands the pathway causes FA-specific clinical symptoms; □□Discovery of FA pathway defects and their role in Marc Bierings, MD, PhD • , Represents the Dutch sporadic cancer. Fanconi Anemia Guideline on behalf of the Dutch Childhood Oncology Group (DCOG), and Chairs the Collaboration in The Netherlands: Guideline Committee for FA in The Netherlands. • Dr. M. Bierings, MD, PhD, Stem Cell Telephone: 31 (0)88 7554344 Fax: 31 (0)88 7555350 Transplantation, Clinical Coordinator for FA families Email: [email protected] in The Netherlands, Utrecht University Medical Center; VU University Medical Center Amsterdam • Dr. E.T. Korthoff, MD, PhD, Stem Cell Transplantation, Leiden University Medical Center; Department of Clinical Genetics Van der Boechorststraat 7 • Dr. R.H. Brakenhoff, PhD, Dept. Otolaryngology/ NL-1081 BT Amsterdam Head-Neck Surgery, VU University Medical Center, The Netherlands Amsterdam. Diagnosis: Telephone: 31-20-444-8346 Fax: 31-20-444-8293 Contacts: • Hans Gille, PhD Email: [email protected] • Resie Vervenne, PhD Email: [email protected] • Aggie Nieuwint, MSc Contact for chromosomal breakage testing. Email: [email protected] Research: Telephone: 31-20-444-8270 Fax: 31-20-444-8285
30 NEW ZEALAND SINGAPORE
Christchurch Hospital, Children’s National University Hospital, Singapore Haematology Oncology Centre Department of Paediatrics Private Bag 4710 1E Kent Ridge Road Christchurch 8140 NUHS Tower Block Level 12 New Zealand Singapore 119228 Republic of Singapore • Dr. Siobhan Cross, Paediatric Haematologist http://www.nuh.com.sg/ucmi/ Telephone: 64 3 364 0640, ext. 87500 Email: [email protected] • Poh-Lin Tan, MBBS, MMED (Paediatrics) Email: [email protected] Services Offered: □□FA diagnosis (samples are sent to Australia), follow International Patient Liaison Centre: up/surveillance for FA patients under age 18. Telephone (24hr Helpline): (65) 67792777 Email: [email protected] Starship Children’s Hospital Services Offered: Grafton □□FACT accredited Paediatric Blood and Marrow Auckland 1023 Transplant Program (FACT accreditation in New Zealand September 2012); □ • Dr. Nyree Cole □Paediatric Sub-specialties: Adolescent Medicine, Telephone: + 64 9 307 4919 Allergy, Cardiology, Developmental Paediatrics, Email: [email protected] Endocrinology, Gastroenterology, Genetics, Haematology, Infectious Diseases, Intensive Care, Nephrology, Neurology, Oncology, Otolaryngology, Psychiatry, Pulmonology, Rheumatology, Surgery. SAUDI ARABIA SOUTH AFRICA King Faisal Specialist Hospital & Research Center Chris-Hani Baragwanath Hospital Riyadh, Saudi Arabia Division of Haematology and Oncology • M. Ayas, MD, Head, Section of Pediatric Stem Cell Johannesburg, South Africa Transplantation Department of Pediatric Hematology Oncology • Dr. Linda Wainwright Telephone: 966-1-442-3934 Fax: 966-1-442-4662 Clinic Telephone: 0800333555 Email: [email protected] Office Telephone: 0119339594 Cell: 0828219985 Email: [email protected] Services Offered: □□Diagnosis: cytogenetics testing including DEB chromosomal breakage testing and conventional Johannesburg Hospital cytogenetics of bone marrow and peripheral blood; Division of Haematology and Oncology □□Comprehensive care for FA patients; including blood Dept. of Pediatrics and platelet transfusion; Private Bag X39 □□Allogeneic stem cell transplant: matched related bone Johannesburg 2000 marrow and matched/partially matched unrelated cord South Africa blood transplants; □□Haploidentical stem cell transplantation for FA • Prof. Janet Poole patients with no matched related donors. Telephone: 27(0)114883294/0 Fax: 27(0)114884152 Cell: 27(0)824695762 Email: [email protected] (Continued on next page)
31 SOUTH AFRICA, cont’d SPAIN
NHLS, Division of Human Genetics, and Hospital General Universitario Gregorio University of the Witwatersrand Marañón PO Box 1038 Pediatric Hematology Johannesburg 2000 C/Doctor Esquerdo, 46 South Africa 28007 Madrid, Spain • Dr. Amanda Krause • Dr. Cristina Belendez Telephone: 27-11-489-9219/9224 Telephone: 91-529-00-37 Mobile:+27-82-809-5797 Fax: 27-11-489-9226 Email: [email protected] Email: [email protected] Services Offered (Chris-Hani Baragwanath, Johannesburg Hospital, and NHLS): Hospital Universitario de la Princesa □□Genetic counseling service for families with FA; C/Doctor Esquerdo, 45 □□Diagnostic, carrier, preclinical and prenatal testing. 28028 Madrid, Spain
Unitas Hospital, Pretoria, Gauteng • Dr. Ángela Figuera Telephone: 91-520-24-31 Dr. Charmaine Jacobs, MD Email: [email protected] PO Box 15225 Lyttleton, 0140, Pretoria Gauteng, South Africa Hospital Vall d’Hebrón • Dr. Charmaine Jacobs, MD, Pediatric Oncology/ Pediatric Oncology Haematology Unit Pg Vall D’Hebrón 119-129 Telephone: 27-12-6778076 Barcelona 08035, Spain Mobile Phone: 27-82082-07435 Fax: 27-12-6647848 Email: [email protected] • Dr. Cristina Díaz de Heredia Telephone: 93-488-30-93 Services Offered: □□Diagnosis and management of FA patients and their families of all age groups; University Hospital Niño Jesús □ □Coaching and counseling families towards a healthy Avenida Menéndez Pelayo, 65 and optimum lifestyle with FA; 28009 Madrid, Spain □□Coordination of consultations with other sub- specialties for management of FA-related disorders. • Julian Sevilla, MD, Department of Hematology and Oncology University of the Free State Telephone: 91-503-5938 Fax: 91-503-5960 Email: [email protected] PO Box 339(G69) Bloemfontein • Dra. Marta Prudencio, Department of Hematology South Africa, 9300 and Oncology • Prof. D.K. Stones,Paediatric Oncology and Telephone: 91-503-5938 Fax: 91-503-5960 Haematology, Department of Paediatrics and Child Health Telephone: 27-51-4052820 Mobile Phone: 083-444-7233 Fax: 27-51-4443230 Email: [email protected] Services Offered (Universitas Hospital, Bloemfontein and NHLS): □□Genetic counseling service for families with FA; □□Diagnostic, carrier, preclinical and prenatal testing in conjunction with Genetics department and NHLS. 32 CIEMAT/CIBERER • Jordi Surrallés, PhD, Full Professor of Genetics (UAB-CFS Scientific Director) Hematopoiesis and Gene Therapy Division, CIEMAT/ Telephone: 34-935-811-830 Fax: 34-935-812-387 CIBER of Rare Diseases (CIBERER) Email: [email protected] Madrid, Spain www.ciemat.es • Maria Roser Pujol, PhD, Cytogeneticist (UAB-CFS Spanish Fanconi Anemia Network: www.redfanconi.org Technical Director). Accredited by Spanish Society of Human Genetics • Juan Bueren, PhD, Head of Hematopoiesis and Fax: 34-935-812-387 Gene Therapy Email: [email protected] Telephone: 34-91-346-6518 Email: [email protected] Services Offered: □□DEB chromosomal breakage testing in blood and skin • José A. Casado, Senior Researcher fibroblasts; Telephone: 34-91-496-2525 □□Diagnosis of mosaicism; Email: [email protected] □□MMC-induced G2/M-cell phase arrest assay; • Aurora de la Cal, Secretary of the Spanish FA □□FANCD2 monoubiquitination and foci formation Research Network assays; Telephone: 34-91-496-2518 □□Spanish contact for prenatal diagnosis; Email: [email protected] □□Genetic counseling; □□Maintenance of a biobank of Spanish FA patients with • Laura Pérez, Technical Assistance cryopreserved transformed cell lines and DNA. Telephone: 34-91-496-2523 Email: [email protected] Services for genetic analysis are offered free of charge to Spanish FA patients through the Spanish Fanconi • Mª Luz Lozano, Technical Assistance Anemia Network, which is funded by the Spanish Telephone: 34-91-346-6255 Ministry of Health. Chromosome fragility testing in Email: [email protected] blood lymphocytes or skin fibroblast is free of charge to Spanish patients when the results are positive. The cost • Paula Río, Senior Researcher of the DEB test in blood lymphocytes to non-Spanish Telephone: 34-91-346-0890 patients or to Spanish patients with a negative result is Email: [email protected] 290 euros. The cost of the DEB test in fibroblasts to non • Susana Navarro, Senior Researcher Spanish patients and to Spanish patients with a negative Telephone: 34-91-346-0891 result is 450 euros. Email: [email protected] Services Offered: □□Coordination of the FA Spanish registry; TURKEY □□FA subtyping by retrovirus mediated gene transfer; □□Analysis of the hematopoietic reserve in bone marrow Istanbul University samples from FA patients (CD34+ cells and Colony Forming Cells). Bone Marrow Bank & Department of Medical Biology, Istanbul Medical Faculty Çapa 34390 Istanbul, Turkey Universitat Autònoma de Barcelona • Nevin Yalman, MD, President, Fanconi Anemia Chromosome Fragility Service (UAB-CFS) Association, Professor, Pediatric Hematologist Department of Genetics and Microbiology Telephone: 9-212-414-20-00, x 31208 08193 Bellaterra (Cerdanyola del Valles) Fax: 9-212-635-11-68 Barcelona, Spain Email: [email protected] http://safcro.uab.es/ Spanish Fanconi Anemia Network: www.redfanconi.org
33 UNITED KINGDOM Yorkshire Paediatric Haematology Unit Leeds General Infirmary Birmingham Children’s Hospital Fanconi Anaemia - Multidisciplinary Clinic Great George Street Steelhouse Lane Leeds LS1 3EX United Kingdom Birmingham, West Midlands B4 6NH United Kingdom • Professor Sally E. Kinsey, MD, Paediatric • Phil Darbyshire, MD, Consultant Pediatric Haematologist Hematologist Telephone: 0113-392-8191 Fax: 0113-392-8488 Telephone: 44-121-333-9999 Email: [email protected] Email: [email protected] • Ben Sykes, Nurse Co-ordinator Telephone: 0113-392-7379 Fax: 0113-392-6629 Bristol Royal Hospital for Children Email: [email protected] Level 6 Upper Maudlin Street Services Offered: Bristol, BS2 8BJ, United Kingdom The Fanconi Anaemia multidisciplinary clinic provides initial general assessment of cases and confirmation of • Colin Steward, MA, BM, BCh, PhD, FRCPCH, diagnosis. The multidisciplinary clinic provides direct FRCP, Department of Paediatric Haematology and access to specialists in: haematology, nephrology, Bone Marrow Transplantation genetics, nutrition, dentistry, psychology and life-style Telephone: 44-117-3428044 Fax: 44-117-3428628 advice. Email: [email protected] In addition there is access to other specialists: hand Services Offered: surgery, hepatology, gynaecology, head and neck □□Comprehensive diagnostic and routine surgery, endocrinology and urology. haematological care in specialized clinic; Patients are assessed and reviewed in Leeds with □□Coordination of complementation group analysis, communication to their referring clinician. Follow mutation screening, somatic mosaicism studies and up in the multidiscipliary clinic is recommended on a other genetic testing; yearly basis. Geographically local individuals can have □□Expertise in androgen and transplantation therapy; routine follow up (including blood counts, biochemistry, □□Specialists in genetics, haematology, bone marrow ultrasound examinations, bone marrow review etc) in transplantation (from sibling, matched and Leeds. Individuals living more distant can have care co- mismatched unrelated, haploidentical and cord ordinated via their referring clinician. donors), endocrinology, gastroenterology and radiotherapy; Where appropriate, work-up for stem cell □□16-bed inpatient area and outpatient bone marrow transplantation can be arranged in Leeds. The transplantation clinic. Yorkshire Paediatric Haematology department is a JACIE accredited Bone Marrow Transplant Unit. St. Mary’s Hospital Praed Street, Paddington London W2 1NY, United Kingdom
• Josu de la Fuente, PhD FRCP MRCPCH FRCPath, Consultant Pediatric Hematologist Telephone: 44-20-788-66164 Email: [email protected]
34 International Fanconi Anemia Testing Resources
35 International Fanconi Anemia Testing Resources
Country Institution Test
The Children’s Hospital at Westmead Sydney, Australia DEB/MMC Diagnostic Testing (Accredited by the National Australia • Zhan he Wu, PhD Association of Testing Authorities, Australia) 0061-2-98453236 [email protected]
DEB/MMC Diagnostic Testing (Licensed under the Ontario Hospital for Sick Children Ministry of Health and Long Term Care) Toronto, Canada Canada • Yigal Dror, MD Canadian Inherited Marrow Failure Registry (Enrollment of (416) 813-5630 patients on this research study includes data collection and [email protected] sample repository.)
Complementation Group (Research)
Heinrich Heine University Medical Use of retroviruses for A, B, C, D2, E, F, G, I, J, L, M, N, Center O, P in primary T-cells, bone marrow or fibroblast cells or in ENT (HNO) lab lymphoblast cell lines (LCL) Düsseldorf, Germany • Helmut Hanenberg, MD FANCD2 western blot +49-211-811-0832 or 0830 Fax - 0839 [email protected] Collaborative mutation testing and research with Detlev Schindler, MD, Würzburg, and Christian Kratz, MD, Hannover, Germany
Germany
MMC Diagnostic Testing (Certified under Governmental and Societies)
University of Würzburg FANCD2 Immunoblots Würzburg, Germany • Detlev Schindler, MD, PhD Prenatal Diagnosis 49-931-888-4088-4098 [email protected] Mutation Analysis (Certified under Governmental and Societies)
Complementation Group
Mutation Analysis FANCA (Clinically Certified) VU University Medical Center Amsterdam, The Netherlands Mutation Analysis FANCC, -E, -F, and -G (Clinically Certified) Netherlands • Hans Gille, PhD 31-20-444-8346 [email protected] Mutation Analysis of other FANC genes (Clinically Certified) Prenatal DNA diagnosis (Clinically Certified)
36 Country Institution Test Laboratory for Medical Genetics Mother and Child Health Care Institute of Serbia St. Radoja Dakica 6-8 Serbia 11070 Belgrade, Serbia DEB Diagnostic Testing • Marija Guc-Scekic, PhD, Head of Laboratory for Medical Genetics 381-11-3108273 [email protected]
Hematopoiesis and Gene Therapy Division, CIEMAT/CIBER of Rare Diseases (CIBERER) Coordination of the Spanish FA Registry Madrid, Spain www.ciemat.es Spanish Fanconi Anemia Network: www. redfanconi.org FA subtyping by retroviral complementation (A,C,G,E,F) in • Juan Bueren, PhD, Head of T-cells. (Research) Hematopoiesis and Gene Therapy 34-91-346-6518 [email protected] • José A. Casado, Senior Researcher 34-91-496-2525 [email protected] • Aurora de la Cal, Secretary of the Studies of G2/M cell cycle arrest in fibroblasts in FA patients Spanish FA Research Network with mosaicims in peripheral blood and subtyping by reversion 34-91-496-2518 of G2/M arrest with retroviral vectors (A,C,G) (Research) [email protected] Spain • Laura Pérez, Technical Assistance 34-91-496-2523 [email protected]
Universitat Autónoma de Coordination of the Spanish FA Biorepository (Biobank of DNA Barcelona/ CIBER of Rare Diseases and cell lines from FA patients) (CIBERER) Barcelona, Spain DEB Diagnostic Testing, Diagnosis of Spanish Fanconi Anemia Network: www. Mosaicism (certified by Societies) redfanconi.org http://safcro.uab.cat • Jordi Surrallés, PhD Studies of G2/M cell cycle arrest in fibrobasts, FANCD2 34-935-811-830 ubiquitination and foci formation, Western blot of FA proteins [email protected] (Research) • Maria Roser Pujol, PhD, Cytogeneticist (UAB-CFS Technical Director) Mutation Analysis (Research) for Spanish Gypsy Population [email protected]
Additional testing information for Fanconi anemia is available at: http://geneclinics.org 1) Select “Gene Reviews” 2) Select “Search by Disease” 3) Enter Fanconi anemia
37 Index of Institutions and Clinicians
A C Adair, Jennifer...... 5 Children’s Hospital Central California...... 2 Adler-Brecher, Barbara...... 6 Children’s Hospital Los Angeles, University of Southern Agarwal, Rajni...... 8 California...... 2 Alter, Blanche P...... 7 Children’s Hospital of Wisconsin...... 2 Apollo Specialty Hospital...... 26 Chris-Hani Baragwanath Hospital...... 31 Apte, Shashikant...... 27 Christchurch Hospital, Children’s Haematology Oncology Ashworth, Tracy...... 3, 20 Centre...... 31 Auerbach, Arleen D...... 6 CIEMAT/CIBERER...... 33, 37 Ayas, M...... 31 Cincinnati Children’s Hospital Medical Ayensu-Coker, Leslie...... 3 Center...... 3, 12, 13, 14, 16, 20 Cincinnati, University of...... 17 B City Of Hope...... 4 Baker, K. Scott...... 5 Clausen, Niels...... 25 Balasa, Vinod...... 2 Clinica Colsubsidio...... 24 Barbach, Nancy...... 4 Clinica Las Americas...... 24 Becker, Pam...... 5 Cogan, Mary...... 1 Belendez, Cristina...... 32 Cohen Children’s Medical Center of New York, Bone Bertuch, Alison...... 8 Marrow Failure Program...... 4 Besser, Andria...... 18 Cohen, Ezra...... 17 Be The Match Registry...... 11 Cohen, Laurie...... 1 Bhatia, Smita...... 4 Cohn, Richard...... 23 Bierings, Marc...... 30 Cole, Catherine...... 22 Birmingham Children’s Hospital...... 34 Cole, Nyree...... 31 Boger, Deborah J...... 10 Collins, Joyce...... 4 Bone Marrow Donor Registries...... 11 Coll, Yadira...... 24 Bone Marrow Failure...... 1-10 Cord Blood Registries...... 12 Bonfim, Carmem...... 23 Cord Blood Registry...... 12 Borkhardt, Arndt...... 26 Cornell University, Weill Medical College...... 16 Boston Children’s Hospital...... 1-2 Cornwall, Roger...... 3, 14 Boston Foundation for Sight...... 15 Cowell, Chris...... 22 Boulad, Farid...... 6 Cross, Siobhan...... 31 Bower, Matt...... 21 Curtin, Julie...... 22 Brakenhoff, R.H...... 30 Breech, Lesley...... 3 D Brennan, Lisa L...... 5 Dalle, Jean-Hugues...... 25 Bristol Royal Hospital for Children...... 34 Dana-Farber Cancer Institute...... 1-2, 5, 20 Bueren, Juan...... 33, 37 D’Andrea, Alan...... 1, 20 Darbyshire, Phil...... 34 C Davies, Stella...... 3, 6 Cabanillas, Christina...... 4 de la Cal, Aurora...... 33, 37 Califano, Joseph...... 16 de la Fuente, Josu...... 34 Cappelli, Enrico...... 28 DeWall, Shannon...... 18 Carter, Tina...... 22 de Winter, Johan P...... 30 Casado, José A...... 33, 37 Díaz de Heredia, Cristina...... 32 Casper, Keith A...... 17 DiVasta, Amy...... 1 Castiel, Mercedes...... 6, 14 DKMS Americas...... 11 Centro Medico Nacional “La Raza”...... 29 Doernbecher Children’s Hospital...... 8 Charité, Campus Virchow Klinikum, University Medicine, Dorsman, Josephine C...... 30 Berlin...... 26 Doyle, John J...... 24 Chicago, University of...... 17 Dror, Yigal...... 24, 36 Chicka, Michael...... 21 Dufour, Carlo...... 28 Children’s Hospital at Westmead, The...... 22, 36
38 E H Ebell, Wolfram H...... 26 Hospital General Universitario Gregorio Marañón...... 32 Endocrinology...... 12 Hospital Universitario de la Princesa...... 32 Eunice Kennedy Shriver National Institute of Child Health Hospital Vall d’Hebrón...... 32 and Human Development...... 14 Hughes, Mark...... 18 Ewing, Nadia...... 4 Hurlet, Anne...... 7
F I Farah, Roula...... 29 Indiana University School of Medicine...... 20 Ferguson, Michael...... 1 International Center for Cell Therapy & Cancer Fidler, Pat...... 9 Immunotherapy (CTCI)...... 27 Figuera, Ángela...... 32 International Fanconi Anemia Registry...... 6 Filipone, Linda...... 15 Isley, Lauren...... 18 Fred Hutchinson Cancer Research Center...... 5 Isola, Luis...... 7 Fulcher, Maureen...... 15 İstanbul University...... 33
G J Garza, Jose...... 3, 13 Jacobs, Charmaine...... 32 Gassas, Adam...... 24 Jeng, Michael...... 8 Gastroenterology...... 13 Johannesburg Hospital...... 31 Genesis Genetics Institute, Genomic Technology Johns Hopkins Medical Institutions...... 16 Center, The...... 18 Jones, Mary Beth...... 2 Genetic Counseling...... 13 G. Gaslini Children’s Institute...... 28 K Ghavamzadeh, Ardeshir...... 27 Kapoor, Neena...... 2 Ghebre, Rahel G...... 9, 14 Karduss, Amado...... 24 Giannetta, Terea...... 2 Karni, Ron J...... 17 Gille, Hans...... 30, 36 Karras, Nicole...... 4 Gillio, Alfred P...... 6 Kato, Shunichi...... 28 Giri, Neelam...... 7 Kearney, Julia A...... 7 Glader, Bertil...... 8 Keck School of Medicine, University of Southern California....2 Gorodezky, Clara...... 29 Kenyatta National Hospital...... 29 Grompe, Markus...... 21 Kharbanda, Sandhya...... 8 Guc-Scekic, Marija...... 37 Kiem, Hans-Peter...... 5 Guinan, Eva C...... 5 Kim, H. Jeffrey...... 16 Gynecology...... 14 King Faisal Specialist Hospital & Research Center...... 31 Kinsey, Sally E...... 34 H Kitonyi, Grace W...... 29 Hackensack University Medical Center...... 6 Koh, Andrew...... 10 Hamidieh, Amir Ali...... 27 Koole, William...... 2 Handgretinger, Rupert...... 26 Kozin, Scott...... 15 Hand Surgeons...... 14-15 Krause, Amanda...... 32 Hanenberg, Helmut...... 20, 36 Kristovich, Karen...... 8 Harrild, David...... 1 Kurre, Peter...... 8 Harris, Richard...... 3 Kutler, David I...... 6, 16 Hatcher, Nancy G...... 2 Hawley, Pam...... 1 L Heinrich Heine University Medical Center...... 26, 36 Laboratory for Medical Genetics, Mother and Child Health Hematology-Oncology and SCT Research Center...... 27 Care Institute of Serbia...... 37 HematoOncologos S.A...... 24 Labow, Brian...... 1 Hernàndez Moreno, Ana Lilia...... 29 Langer, Shari...... 2 Hitt, Debbie...... 4 Lankester, Arjan C...... 30 Holter, Wolfgang...... 23 Lavin, Christina...... 18 Hôpital Robert DEBRE...... 25 Lawson, Sarah...... 3 Hôpital Saint-Louis...... 25 Lea, Judith...... 8 Hospital de Clinicas, University of Parana...... 23 Leathwood, Lisa...... 7 Hospital for Sick Children, The University of Toronto....24, 36 Leblanc, Thierry...... 25
39 L P Lehmann, Leslie...... 1 Pavia, University of...... 28 Leiden University Medical Center...... 30 Pawlowska, Anna...... 4 Lemist, Nancy...... 15 Pérez, Laura...... 33, 37 Linares, Adriana...... 24 Petryk, Anna...... 9, 12 Lipton, Jeffrey H...... 24 Picker, Jonathan...... 1 Lipton, Jeffrey M...... 4 Pittsburgh, University of...... 17 Little, David...... 22 Poole, Janet...... 31 Liu, Johnson M...... 4 Pre-implantation Genetic Diagnosis...... 18 Locatelli, Franco...... 28 Prevention Genetics...... 21 Locke, Susanna...... 1 Princess Margaret Hospital...... 24 Lozano, Mª Luz...... 33 Princess Margaret Hospital for Children...... 22 Prudencio, Marta...... 32 M MacMillan, Margaret L...... 6, 9 Q Manitoba, University of...... 24 Quest Diagnostics...... 21 Maurice, Lucy...... 23 McRae, Annie...... 18 R Mehta, Parinda...... 3 Rahbar, Reza...... 1 Memorial Sloan-Kettering Cancer Center...... 6-7, 14, 16 Raj, Revathi...... 26 Miller, Stephanie...... 18 Ramirez, Oscar W...... 24 Miller, Torri...... 2 Rao, V. Babu...... 27 Mohan, Sheila...... 26 Razzaqi, Faisal...... 2 Montero Ponce, Inès...... 29 Redman, Joy...... 21 Moreau, Lisa A...... 1, 20 Reinhard, Ann E...... 1 Mother and Child Health Care Institute of Serbia...... 37 Reproductive Genetics Institute, The...... 18 Mount Sinai School of Medicine...... 7 Richards, C. Sue...... 21 Mouradian, Kirsten...... 8 Rigolet, Arnaud...... 25 Myers, Kasiani...... 3 Río, Paula...... 33 Rockefeller University, The...... 6, 13 N Rodriguez, Leonel A...... 1 National Cancer Institute...... 7 Rogers, Zora R...... 10 National Institute of Immunohaematology (ICMR)...... 27 Rosenthal, Joseph...... 4 National Institutes of Health...... 16 Roser Pujol, Maria...... 33, 37 National Marrow Donor Program...... 11 Rose, Susan R...... 3, 12 National University Hospital, Singapore...... 31 Rubin Grandis, Jennifer...... 17 National University of Colombia...... 24 Russell, Susan...... 23 Navarro, Susana...... 33 Rutter, Meilan M...... 12 Nguyen, Hiep (Bob)...... 1 Rutter, Michael...... 3, 16 NHLS, Division of Human Genetics...... 32 Nieuwint, Aggie...... 30 S Sahyadri Hospital...... 27 O Sanborn, Erica...... 6, 13 O’Brien, Ida...... 22 Sanders, Jean...... 5 O’Brien, Tracey...... 23 Schifter, Mark...... 22 Olson, Susan...... 21 Schindler, Detlev...... 36 Ondrey, Frank...... 9, 17 Schonberg, Steven...... 21 Ophthalmology...... 15 Schwarzenberg, Sarah Jane...... 9, 13 Oregon Health & Science University...... 8, 21 Seattle Children’s Hospital...... 5 Otolarngology (Ear, Nose, and Throat) and Head and Sedlacek, Petr...... 25 Neck Cancer...... 16-17 Senner, Anne...... 23 Sevilla, Julian...... 32 P Shaw, Peter...... 22 Palme, Carsten E...... 22 Sheils, Catherine...... 1 Parana, University of...... 23 Shereck, Evan...... 8 Pasquini, Ricardo...... 23 Shimamura, Akiko...... 5 Patterson, Frances...... 2 Shriners Hospital for Children...... 15 Sieff, Colin...... 1
40 S U Singh, Bhuvanesh...... 6, 16 University of Texas Southwestern Medical Center, The Slavin, Shimon...... 27 Children’s Medical Center Dallas...... 10 Smogorzewska, Agata...... 6 University of the Free State...... 32 Socié, Gérard...... 25 University of the Witwatersrand...... 32 Sorrell, April...... 4 University of Toronto, The...... 24 Soulier, Jean...... 25 University of Tuebingen...... 26 Southern California, University of...... 2 University of Würzburg...... 36 Stanford School of Medicine, Lucille Packard Children’s Hospital...... 8 V St. Anna Children’s Hospital...... 23 Vance, Gail H...... 20 Starship Children’s Hospital...... 31 Van Heest, Ann E...... 9, 14 Steward, Colin...... 34 Van Waes, Carter...... 7, 16 St. George Hospital University Medical Center...... 29 Velleuer, Eunike...... 26 St. Mary’s Hospital...... 34 Vervenne, Resie...... 30 Stoll, Tracey...... 8 Vlachos, Adrianna...... 4 Stones, D.K...... 32 Vokes, Everett...... 17 Stratton, Pamela...... 7, 14 VU University Medical Center...... 30, 36 Sturgis, Erich...... 17 Surrallés, Jordi...... 33, 37 W Svahn, Johanna...... 28 Sydney Children’s Hospital...... 23 Wagner, John E...... 9 Sykes, Ben...... 34 Wainwright, Linda...... 31 Walsh, Christopher...... 7 T Weinberg, Kenneth...... 8 Williams, David A...... 1 Tamary, Hannah...... 27 Wilson, Keith M...... 17 Tan, Poh-Lin...... 31 Wilson, Meredith...... 22 Tcheng, Wendy...... 2 Witwatersrand, University of the...... 32 Testing Resources, International...... 35-37 Wong, Wendy...... 8 Testing Resources, US...... 19-21 Woolfrey, Ann...... 5 Texas Children’s Hospital...... 8 Wu, Bai-Lin...... 1 Thakar, Monica...... 2 Würzburg, University of...... 36 Thyagarajan, Bharat...... 21 Wu, Zhan he...... 36 Titaphiwatanakun, Ruetima...... 2 Tokai University...... 28 Y Tolar, Jakub...... 9 Toronto, The University of...... 24 Yabe, Hiromasa...... 28 Tuebingen, University of...... 26 Yabe, Miharu...... 28 Yalman, Nevin...... 33 U Yorkshire Paediatric Haematology Unit...... 34 Young, Jo-Anne H...... 9 UMC Utrecht...... 30 Young, Pamela...... 2 Unitas Hospital, Pretoria, Gauteng...... 32 Universitat Autònoma de Barcelona...... 33, 37 Z University Hospital Motol...... 25 University Hospital Niño Jesús...... 32 Zhao, Mingfeng...... 24 University Hospital of Aarhus at Skejby...... 25 Zierhut, Heather...... 9, 13 University of Chicago Medical Center...... 17 Zimmer, Lee A...... 17 University of Cincinnati, College of Medicine...... 17 University of Manitoba...... 24 University of Minnesota...... 9-10, 12, 13, 14, 17, 21 University of Parana...... 23 University of Pavia...... 28 University of Pittsburgh School of Medicine Eye & Ear Institute...... 17 University of Southern California...... 2 University of Texas Health Science Center at Houston...... 17 University of Texas MD Anderson Cancer Center...... 17
41