DOCSLIB.ORG

Optional Ashkenazi Panel Brochure

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Optional Ashkenazi Panel Brochure בס’’ד Fulfilling Our Responsibility To The Next Generation A VITAL PROGRAM THAT SAVES LIVES! The Dor Yeshorim mission: For over 30 years, Dor Yeshorim has successfully prevented the occurrence of genetic diseases in our NOW AVAILABLE: families. Since 1983, Dor Yeshorim with Hashem’s help NEW PANEL OF TESTS has successfully prevented genetic diseases from affecting our Jewish Community by conducting mass screenings in high schools, colleges, universities, FOR SEVEN ADDITIONAL yeshivas and seminaries worldwide- throughout the United States, Israel, Canada, Europe, and countless other orthodox Jewish communities. DEVASTATING AND The Dor Yeshorim genetic screening program was established to provide protection from Jewish genetic diseases, while safeguarding individuals from the potentiallY FatAL psychological stigma associated with knowing their carrier status. DISEASES To date, approximately 375,000 individual genetic screening tests have been performed, and nearly 2,000 potential couples have been spared the List of Diseases: agony of giving birth to a child or children with a 1. Bardet–Biedl Syndrome Type 2 (BBS2) devastating or fatal genetic disease. The birth of a sick child not only impacts the parents of this child 2. Nemaline Myopathy (NM) but also the siblings, grandpare nts and the extended 3. Dihyrolipoamide Dehydrogenase Deficiency (DLDD) family. B’H Dor Yeshorim has been able to spare over 4. Usher Syndrome Type 1 (USH1) 2,000 families the hardships associated with having such a child. 5. Joubert Syndrome (JBTS) DY benefits from ongoing collaborations with the 6. Walker-Warburg Syndrome (WWS) world’s leading geneticists. 7. Maple Syrup Urine Disease Type 1B (MSUD1B) 2 3 DOR YESHORIM CONTINUES THE DOR Yeshorim ITS VITAL WORK CURRENT TESTING PANEL New tests developed for SEVEN additional fatal and Dor Yeshorim now routinely screens for the following debilitating genetic diseases potentially fatal and severely debilitating genetic Dor Yeshorim continues its efforts to decrease the diseases commonly found in the Ashkenazic Jewish incidence of devastating and potentially fatal genetic community: diseases through its ongoing research into genetic 1. Tay Sachs – Ashkenazic Mutations diseases that affect the Jewish community. Tay Sachs – Sefardic Mutations The development of accurate and reliable tests for 2. Cystic Fibrosis – Ashkenazic Mutations these mutations is a costly, pain-staking and time- Cystic Fibrosis – Non-Ashkenazic Mutations consuming process. 3. Familial Dysautonomia Today, we are grateful to be able to respond to the 4. Canavan Disease pleas of many in the community and announce that scientific technological advancements, in conjunction 5. Glycogen Storage Disease Type I enabled 6. Bloom Syndrome בעזהשי״ת with our extensive research, have us to prevent additional devastating diseases that 7. Fanconi Anemia Type C have affected many families in our Ashkenazi Jewish community. 8. Neimann Pick 9. Mucolipidosis Type IV THE DOR Yeshorim NEW OPTIONAL TESTING PANEL 10. Bardet–Biedl Syndrome Type 2 (BBS2) 11. Nemaline Myopathy (NM) 12. Dihyrolipoamide Dehydrogenase Deficiency (DLDD) 13. Usher Syndrome Type 1 (USH1) 14. Joubert Syndrome (JBTS) 15. Walker-Warburg Syndrome (WWS) 16. Maple Syrup Urine Disease Type 1B (MSUD1B) Please be aware of the following: The DY program checks carrier status for numerous genetic diseases, but it cannot detect undetermined/unknown genetic diseases which may occur as a result of marriage between relatives. 4 5 ear (vestibular) abnormalities. Affected children develop FUrther INFormation night blindness, which eventually progresses to loss of peripheral vision (tunnel vision) and to decreased acu- ity. DY encountered several incidences of this disease in regARDING THE DISEASES Ashkenazic Jewish families. 14. Joubert Syndrome (JBTS) INCLUDED IN THE NEW JBTS is an autosomal recessive disorder character- ized by a distinctive brain malformation visible on MRI examination, low muscle tone, abnormal breathing optional TESTING PANEL: pattern, and developmental delay. Additional features may include abnormal eye movement, abnormal gait, mental retardation, vision problems, extra fingers and/ 10. Bardet-Biedl Syndrome Type 2 (BBS2) or toes, and kidney disease. DY played a significant role BBS2 is an autosomal recessive disorder characterized by in this gene discovery after several families sought DY’s mild to moderate mental retardation, pigmentation of assistance. the retina with progressive deterioration of vision, kidney failure, obesity, limb malfunction and extra digits on the 15. Walker-Warburg Syndrome (WWS) hands and/or feet. While it was originally believed to be WWS is an autosomal recessive disorder character- found only in the Bedouin population, DY’s efforts have ized by muscular weakness present at birth, along enabled the detection of two BBS2-causing mutations in with severe brain and eye abnormalities. The surface the Ashkenazi community. of the brain is abnormally smooth (lissencephaly), the cerebellum and brainstem are underdeveloped, and 11. Nemaline Myopathy (NM) most infants have water on the brain (hydrocephalus). NM is an autosomal recessive neuromuscular disorder Congenital cataracts and retina malformations are usu- characterized by muscle weakness, especially in the ally also present. Severe developmental delay ensues, face, neck and limbs, low muscle tone, and depressed and most affected children die in early childhood. or absent tendon reflexes. The disease usually presents Upon encountering several incidences of this disease in infancy, and muscle biopsies reveal the presence of in Ashkenazic Jewish families, DY determined that this nemaline bodies. DY found the Ashkenazic Jewish muta- disease occurs in the Ashkenazi community at a higher tion after several families sought assistance. frequency than initially believed. 12. Dihydrolipoamide Dehydrogenase Deficiency 16. Maple Syrup Urine Disease Type 1B (MSUD1B) (DLDD) MSUD1B is an autosomal recessive disorder of amino DLDD- also known as Maple Syrup Urine Disease Type 3 acid metabolism which usually presents at or several and E3 deficiency, is an autosomal recessive metabolic days after birth. From early infancy, symptoms include disorder in which protein cannot be properly metabo- poor feeding, vomiting, dehydration, lethargy, hypo- lized. This causes accumulation of toxic byproducts. tonia, seizures, irregular breathing, decreased level of Symptoms include recurrent vomiting, episodes of ab- consciousness, and neurological decline. DY encoun- dominal pain and changes in consciousness, an enlarged tered several incidences of this disease in Ashkenazic liver, and neurological complications. DY has encoun- Jewish families. tered several incidences of this disease in Ashkenazic Jewish families. Even if you have never heard of the seven diseases in the new Dor Yeshorim panel, you need to consider 13. Usher Syndrome Type 1 (USH1) testing for these diseases. THEY DO OCCUR IN OUR USH1 is an autosomal recessive disorder characterized COMMUNITY. Families are suffering from these diseases, by profound congenital bilateral deafness, progressive often silently and tragically – they do not talk about it – vision abnormalities, and balance problems due to inner that is why you do not know about them! 6 7 WHY IS THIS TESTING OPTIONAL? If these diseases are affecting our communities, why is testing optional? The new panel contains seven additional diseases that are less common, but they do exist in our community and the families affected are suffering terribly. While each individual and family need to decide if they want to take advantage of the new testing panel, it is advisable and recommended that people be screened, to ensure that their future family will not be affected. What Determines IF A Disease WILL BE ON THE DY PANEL? What are the criteria for choosing which genetic diseases should be tested? Dor Yeshorim only selects tests for genetic diseases that are recessive, frequently occurring in the Jewish commu- nity, devastating and/or fatal. In addition, tests added to the Dor Yeshorim testing panel must be reliable. Not WHAT IF OTHER GENETIC DISEASES APPEARED IN YOUR FAMILY ח״ו every test presently on the market meets these criteria. HAVE What can you do to protect your healthy children? ,appeared in your family ח”ו If a genetic disease has contact our office for additional information, screening, counseling and medical referrals. Reaching out for assistance will help assure that healthy siblings can safely marry without fear of reoccurrence of the disease. All information will be held strictly confidential. Protecting your family’s emotional health is of utmost importance to us, just as it is our goal to protect your family from being affected by devastating genetic diseases. We presently have the ability to screen for additional ge- netic diseases that are not currently part of DY’s regular panel and the new optional panel. For example: • Various forms of genetically caused deafness. • Various forms of genetically caused blindness. • Usher Syndrome Type 3 And more. 8 9 WILL ADDITIONAL TESTS BE DOR YESHORIM, ADDED IN THE FUTURE? What is the goal of Dor Yeshorim? THE PAST, As tests for other fatal and/or debilitating diseases become available, they are reviewed by DY’s medical and rabbinical advisory boards. Decisions are based THE PRESENT upon the severity of symptoms, test reliability, carrier frequency and available therapies for the disease. AND THE FUTURE... to ultimately eradicate בעזהשי”ת It is the goal of
Load more

Recommended publications
  • Mishpacha-Article-February-2011.Pdf
    HANGING ON BY A FRINGCOLONE:EL MORDECHAI FRIZIS’S MEMBERS COURAG THEEOUS LA SRESPONSET ACT OF THE TRIBE? FOR HIS COUNTRY OPEN MIKE FOR HUCKABEE SWEET SONG OF EMPATHY THE PRESIDENTIAL HOPEFUL ON WHAT FUELED HIS FIFTEENTH TRIP TO ISRAEL A CANDID CONVERSATION WITH SHLOIME DACHS, CHILD OF A “BROKEN HOME” LIFEGUARD AT THE GENE POOL HIS SCREENING PROGRAM HAS SPARED THOUSANDS FROM THE HORROR OF HIS PERSONAL LOSSES. NOW DOR YESHORIM’S RABBI YOSEF EKSTEIN BRAVES THE STEM CELL FRONTIER ON-SITE REPORT RAMALLAHEDUCATOR AND INNOVATOR IN RREALABBI YAAKOV TIME SPITZER CAN THES P.TILLA. FORM LIVA FISCESALLY RSOUNDAV STATE?WEI SSMANDEL’S WORDS familyfirst ISSUE 346 I 5 Adar I 5771 I February 9, 2011 PRICE: NY/NJ $3.99 Out of NY/NJ $4.99 Canada CAD $5.50 Israel NIS 11.90 UK £3.20 INSIDE The Gene Marker's Rabbi Yosef Ekstein of Dor Yeshorim Vowed that No Couple Would Know His Pain Bride When Rabbi Yosef Ekstein’s fourth Tay-Sachs baby was born, he knew he had two options – to fall into crushing despair, or take action. “The Ribono Shel Olam knew I would bury four children before I could take my self-pity and turn it outward,” Rabbi Ekstein says. But he knew nothing about genetics or biology, couldn’t speak English, and didn’t even have a high school diploma. How did this Satmar chassid, a shochet and kashrus supervisor from Argentina, evolve into a leading expert in the field of preventative genetic research, creating an Bride international screening program used by most people in shidduchim today? 34 5 Adar I 5771 2.9.11 35 QUOTES %%% Rachel Ginsberg His father, Rabbi Kalman Eliezer disease and its devastating progression, as Photos: Meir Haltovsky, Ouria Tadmor Ekstein, used to tell him, “You survived by the infant seemed perfect for the first half- a miracle.
    [Show full text]
  • A Brief Evaluation and Image Formation of Pediatrics Nutritional Forum in Opinion Sector Disouja Wills* Nutritonal Sciences, Christian Universita Degli Studo, Italy
    d Pediatr Wills, Matern Pediatr Nutr 2016, 2:2 an ic l N a u n t DOI: 10.4172/2472-1182.1000113 r r e i t t i o Maternal and Pediatric a n M ISSN: 2472-1182 Nutrition ShortResearch Commentary Article OpenOpen Access Access A Brief Evaluation and Image formation of Pediatrics Nutritional Forum in Opinion Sector Disouja Wills* Nutritonal Sciences, Christian Universita degli studo, Italy Abstract Severe most and one of the main global threat is Nutritional disorders to backward countries, with respect to this issue WHO involved and trying to overcome this issue with the Co-ordination of INF and BNF. International Nutrition Foundation and British Nutrition Foundation, development in weight gain through proper nutrition and proper immune mechanism in the kids is their main role to eradicate and overcome nutritional problems in world. Keywords: INF; BNF; Malnutrition; Merasmus; Rickets; Weight loss; Precautions to Avoid Nutrition Deficiency in Paediatric health issue Paediatrics Introduction Respective disease having respective deficiency dis order but in the case of nutritional diseases. Proper nutrition is the only thing to cure In the mankind a respective one health and weight gain is fully nutritional disorders. Providing sufficient diet like fish, meat, egg, milk based on perfect nutritional intake which he is having daily, poor diet to malnourished kids and consuming beef, fish liver oil, sheep meat, will show the improper impact and injury to the some of the systems boiled eggs from the age of 3 itself (Tables 1 and 2). in the body, total health also in some times. Blindness, Scurvy, Rickets will be caused by nutritional deficiency disorders only, mainly in kids.
    [Show full text]
  • Neonatal Orthopaedics
    NEONATAL ORTHOPAEDICS NEONATAL ORTHOPAEDICS Second Edition N De Mazumder MBBS MS Ex-Professor and Head Department of Orthopaedics Ramakrishna Mission Seva Pratishthan Vivekananda Institute of Medical Sciences Kolkata, West Bengal, India Visiting Surgeon Department of Orthopaedics Chittaranjan Sishu Sadan Kolkata, West Bengal, India Ex-President West Bengal Orthopaedic Association (A Chapter of Indian Orthopaedic Association) Kolkata, West Bengal, India Consultant Orthopaedic Surgeon Park Children’s Centre Kolkata, West Bengal, India Foreword AK Das ® JAYPEE BROTHERS MEDICAL PUBLISHERS (P) LTD. New Delhi • London • Philadelphia • Panama (021)66485438 66485457 www.ketabpezeshki.com ® Jaypee Brothers Medical Publishers (P) Ltd. Headquarters Jaypee Brothers Medical Publishers (P) Ltd. 4838/24, Ansari Road, Daryaganj New Delhi 110 002, India Phone: +91-11-43574357 Fax: +91-11-43574314 Email: [email protected] Overseas Offices J.P. Medical Ltd. Jaypee-Highlights Medical Publishers Inc. Jaypee Brothers Medical Publishers Ltd. 83, Victoria Street, London City of Knowledge, Bld. 237, Clayton The Bourse SW1H 0HW (UK) Panama City, Panama 111, South Independence Mall East Phone: +44-2031708910 Phone: +507-301-0496 Suite 835, Philadelphia, PA 19106, USA Fax: +02-03-0086180 Fax: +507-301-0499 Phone: +267-519-9789 Email: [email protected] Email: [email protected] Email: [email protected] Jaypee Brothers Medical Publishers (P) Ltd. Jaypee Brothers Medical Publishers (P) Ltd. 17/1-B, Babar Road, Block-B, Shaymali Shorakhute, Kathmandu Mohammadpur, Dhaka-1207 Nepal Bangladesh Phone: +00977-9841528578 Mobile: +08801912003485 Email: [email protected] Email: [email protected] Website: www.jaypeebrothers.com Website: www.jaypeedigital.com © 2013, Jaypee Brothers Medical Publishers All rights reserved. No part of this book may be reproduced in any form or by any means without the prior permission of the publisher.
    [Show full text]
  • EFFECTIVE NEBRASKA DEPARTMENT of 01/01/2017 HEALTH and HUMAN SERVICES 173 NAC 1 I TITLE 173 COMMUNICABLE DISEASES CHAPTER 1
    EFFECTIVE NEBRASKA DEPARTMENT OF 01/01/2017 HEALTH AND HUMAN SERVICES 173 NAC 1 TITLE 173 COMMUNICABLE DISEASES CHAPTER 1 REPORTING AND CONTROL OF COMMUNICABLE DISEASES TABLE OF CONTENTS SECTION SUBJECT PAGE 1-001 SCOPE AND AUTHORITY 1 1-002 DEFINITIONS 1 1-003 WHO MUST REPORT 2 1-003.01 Healthcare Providers (Physicians and Hospitals) 2 1-003.01A Reporting by PA’s and APRN’s 2 1-003.01B Reporting by Laboratories in lieu of Physicians 3 1-003.01C Reporting by Healthcare Facilities in lieu of Physicians for 3 Healthcare Associated Infections (HAIs) 1-003.02 Laboratories 3 1-003.02A Electronic Ordering of Laboratory Tests 3 1-004 REPORTABLE DISEASES, POISONINGS, AND ORGANISMS: 3 LISTS AND FREQUENCY OF REPORTS 1-004.01 Immediate Reports 4 1-004.01A List of Diseases, Poisonings, and Organisms 4 1-004.01B Clusters, Outbreaks, or Unusual Events, Including Possible 5 Bioterroristic Attacks 1-004.02 Reports Within Seven Days – List of Reportable Diseases, 5 Poisonings, and Organisms 1-004.03 Reporting of Antimicrobial Susceptibility 8 1-004.04 New or Emerging Diseases and Other Syndromes and Exposures – 8 Reporting and Submissions 1-004.04A Criteria 8 1-004.04B Surveillance Mechanism 8 1-004.05 Sexually Transmitted Diseases 9 1-004.06 Healthcare Associated Infections 9 1-005 METHODS OF REPORTING 9 1-005.01 Health Care Providers 9 1-005.01A Immediate Reports of Diseases, Poisonings, and Organisms 9 1-005.01B Immediate Reports of Clusters, Outbreaks, or Unusual Events, 9 Including Possible Bioterroristic Attacks i EFFECTIVE NEBRASKA DEPARTMENT OF
    [Show full text]
  • CARRIER SCREENING: POPULATION DIFFERENCES, STIGMA, and the SPECTER of Co-Authored with EUGENICS Stephen Pemberton Tay Sachs KEITH WAILOO, PH.D
    CARRIER SCREENING: POPULATION DIFFERENCES, STIGMA, AND THE SPECTER OF Co-authored with EUGENICS Stephen Pemberton Tay Sachs KEITH WAILOO, PH.D. Disease Martin Luther King Jr. Professor Cystic Fibrosis RUTGERS UNIVERSITY Sickle Cell Disease DEPARTMENT OF HISTORY INSTITUTE FOR HEALTH, HEALTH CARE POLICY, AND AGING RESEARCH RESEARCH SUPPORTED BY: ETHICAL, LEGAL, AND SOCIAL ISSUES (ELSI) PROGRAM, NHGRI; and THE JAMES S. MCDONNELL FOUNDATION Lessons of the Past: • Balancing the screening interests of individuals, communities, and society? The importance of historical sensitivity and cultural competence among health practitioners who engage in screening • How to target screening to distinct populations? The challenge of “hidden” versus obvious subpopulations. One-size does not fit all; how screening relates to group values and concerns • In health care, knowing when screening is not the answer for some populations. Other goals: treatment and extension of life, relief. The importance of competent screening programs among populations whose group identities are invested in the maintenance of values that are distinctively different than that of the majority culture. TODAY: ONE HISTORICAL CASE STUDY (TAY-SACHS DISEASE), WITH SICKLE CELL DISEASE AND CYSTIC FIBROSIS AS BACKDROP CONTROVERSIES in CARRIER SCREENING, STIGMATIZATION, AND POPULATION – the case of sickle cell disease • LINUS PAULING 1968: “I have suggested that there should be tatooed on the forehead of every young person a symbol showing possession of the sickle cell gene or whatever other
    [Show full text]
  • DIAGNOSIS and TREATMENT of BRUCELLOSIS (Undulant Fever)
    DIAGNOSIS AND TREATMENT OF BRUCELLOSIS (Undulant Fever) CHARLES L. HARTSOCK, M.D. Not only the treatment but also the diagnosis of undulant fever are far from being satisfactory, although many types of therapy are being tried and critically evaluated. Because of the tremendous scope of the disease, frequent discussions and reappraisals of our ideas about bru- cellosis will be absolutely essential for some time. Some physicians more or less disregard brucellosis and even scoff at the chronic phase of this new intruder in the realm of human disease. Others are overenthusi- astic and attempt to explain many vague and indefinite problems upon the basis of chronic brucellosis without sufficient evidence. Still other physicians have lost their original enthusiasm and have reverted to the first viewpoint, probably because of the great difficulty in coping with the caprices and vagaries of this disease and the marked uncertainties in diagnosis and treatment. Even though this disease is extremely protean and remarkably bizarre in its manifestations, it is a disease of known causative organism to which the generic term of brucella has been given. The original infection in man was traced to the drinking of goat's milk on the Island of Malta, and for many years this disease was known as Malta fever. Because of the undulating character of the fever with a tendency for remissions and recurrences, it was later called undulant fever which proved to be a very poor description of the febrile reaction in many instances. Brucellosis is the more specific term derived from the organism causing the disease. Three strains of the brucella organism have been isolated and named for their respective hosts: b.
    [Show full text]
  • Carrier Screening Panels for Ashkenazi Jews: Is More Better? Jennifer R
    March 2005 ⅐ Vol. 7 ⅐ No. 3 article Carrier screening panels for Ashkenazi Jews: Is more better? Jennifer R. Leib, MS1,2, Sarah E. Gollust, BA3,4, Sara Chandros Hull, PhD3,4, and Benjamin S. Wilfond, MD3,4 Purpose: To describe the characteristics of Ashkenazi Jewish carrier testing panels offered by US Laboratories, including what diseases are included, the labels used to describe the panels, and the prices of individual tests compared to the prices of panels for each laboratory. Methods: GeneTests (http://www.genetests.org) was searched for laboratories that offered Tay-Sachs disease testing. Information was obtained from laboratory web sites, printed brochures, and telephone calls about tests/panels. Results: Twenty-seven laboratories offered up to 10 tests. The tests included two diseases associated with death in childhood (Niemann-Pick type A and Tay-Sachs disease), five with moderate disability and a variably shortened life span (Bloom syndrome, Canavan disease, cystic fibrosis, familial dysautonomia, Fanconi anemia, and mucolipidosis type IV), and two diseases that are not necessarily disabling or routinely shorten the lifespan (Gaucher disease type I and DFNB1 sensorineural hearing loss). Twenty laboratories offered a total of 27 panels of tests for three to nine diseases, ranging in price from $200 to $2082. Of these, 15 panels cost less than tests ordered individually. The panels were described by 24 different labels; eight included the phrase Ashkenazi Jewish Disease or disorder and six included the phrase Ashkenazi Jewish Carrier. Conclusion: There is considerable variability in the diseases, prices, and labels of panels. Policy guidance for establishing appropriate criteria for inclusion in panels may be useful to the Ashkenazi Jewish community, clinicians, and payers.
    [Show full text]
  • C Lif I I I I C Lif I I I I California Immunization Requirements
    ClifCaliforn ia IiiImmunization Requirements for School & Child Care Entry Jennifer Sterling San Diego Immunization Partnership www.sdiz.org CtCounty of San Diego, HlthHealth and Human SiServices Agency Immunization Partnership Training Objectives At the end of this training, you will be able to: • List the immunization requirements for child care entry. • Identify acceptable forms of personal immunization records. • Correctly complete the California School Immunization Record (CSIR)/Blue Card. • Create a management system for conditional entrants and exemptions. Why Do We Need Immunizations? • Protect children and families • Prevent illnesses which can cause death and disability • Protect the health of others in the community • Good Public Health Practice Spread of Disease read of Disease –– a a cough, cough, sneezesneeze, or handshake away, or handshake away Vaccine Preventable Diseases in San Diego County Pertussis (Whooping Cough) >604 cases so far in 2010! The worst epidemic in 55 years. • Adults spreading sickness to babies. Nine babies under 3 months of age have died in California this year. • To preven t the sprea d o f Per tuss is, ge t the TDAP vacci ne! Chickenpox • 2009: 69 cases in 10 school districts • 2010: 10 cases in 2 school districts Measles • 2010: Three measles cases in Carlsbad, nine children quarantined • Measles outbreak in San Diego during January and February 2008‐first measles outbreak since 1991! ‐12 cases in 2008 ‐71 peopl e quarantine d Polio is still epidemic in 4 countries! Pertussis – Nearly 50% of the time, infants are infected by their parents Prevention of Disease – SimpleSimple!! Immunizations help prevent the spread of communicable diseases. Cover mouth (w/arm) when coughing or sneezing.
    [Show full text]
  • European Conference on Rare Diseases
    EUROPEAN CONFERENCE ON RARE DISEASES Luxembourg 21-22 June 2005 EUROPEAN CONFERENCE ON RARE DISEASES Copyright 2005 © Eurordis For more information: www.eurordis.org Webcast of the conference and abstracts: www.rare-luxembourg2005.org TABLE OF CONTENT_3 ------------------------------------------------- ACKNOWLEDGEMENTS AND CREDITS A specialised clinic for Rare Diseases : the RD TABLE OF CONTENTS Outpatient’s Clinic (RDOC) in Italy …………… 48 ------------------------------------------------- ------------------------------------------------- 4 / RARE, BUT EXISTING The organisers particularly wish to thank ACKNOWLEDGEMENTS AND CREDITS 4.1 No code, no name, no existence …………… 49 ------------------------------------------------- the following persons/organisations/companies 4.2 Why do we need to code rare diseases? … 50 PROGRAMME COMMITTEE for their role : ------------------------------------------------- Members of the Programme Committee ……… 6 5 / RESEARCH AND CARE Conference Programme …………………………… 7 …… HER ROYAL HIGHNESS THE GRAND DUCHESS OF LUXEMBOURG Key features of the conference …………………… 12 5.1 Research for Rare Diseases in the EU 54 • Participants ……………………………………… 12 5.2 Fighting the fragmentation of research …… 55 A multi-disciplinary approach ………………… 55 THE EUROPEAN COMMISSION Funding of the conference ……………………… 14 Transfer of academic research towards • ------------------------------------------------- industrial development ………………………… 60 THE GOVERNEMENT OF LUXEMBOURG Speakers ……………………………………………… 16 Strengthening cooperation between academia
    [Show full text]
  • Diseases Transmitted Through the Food Supply
    DEPARTMENT OF HEALTH AND HUMAN SERVICES Centers for Disease Control and Prevention Diseases Transmitted through the Food Supply AGENCY: Centers for Disease Control and Prevention (CDC), Department of Health and Human ­ Services (HHS). ­ ACTION: Notice of annual update of list of infectious and communicable diseases that are ­ transmitted through handling the food supply and the methods by which such diseases are ­ transmitted. ­ SUMMARY: Section 103 (d) of the Americans with Disabilities Act of 1990, Public Law 101–336, ­ requires the Secretary to publish a list of infectious and communicable diseases that are ­ transmitted through handling the food supply and to review and update the list annually. The ­ Centers for Disease Control and Prevention (CDC) published a final list on August 16, 1991 (56 ­ FR40897) and updates on September 8, 1992 (57 FR 40917); January 13, 1994 (59 FR 1949); ­ August 15, 1996 (61 FR 42426); September 22, 1997 (62 FR 49518–9); September 15, 1998 (63 ­ FR 49359); September 21, 1999 (64 FR 51127); September 27, 2000 (65 FR 58088); September ­ 10, 2001 (66 FR 47030); September 27, 2002 (67 FR 61109); September 26, 2006 (71 FR 56152); ­ November 17, 2008 (73 FR 67871); and November 29, 2009 (74 FR 61151). The final list has ­ been reviewed in light of new information and has been revised as set forth below. ­ DATES: Effective Date: January 31, 2014. ­ FOR FURTHER INFORMATION CONTACT: ­ Dr. Art Liang, Division of Foodborne Waterborne and Environment Diseases, National Center for ­ Emerging and Zoonotic Infectious Diseases, Centers for Disease Control and Prevention (CDC), ­ 1600 Clifton Road, NE., Mailstop G–24, Atlanta, Georgia 30333.
    [Show full text]
  • Judaism, Genetic Screening and Genetic Therapy Part 2
    Jerusalem Science Contest החידון המדע הירושלמי Judaism, Genetic Screening and Genetic Therapy Part 2 The Jerusalem Science contest lecture on Judaism, Genetic Screening and Genetic Therapy – Part 2 1 Judaism, Genetic Screening and Genetic Therapy FRED ROSNER, M.D., F.A.C.P. OCTOBER/NOVEMBER 1998 NUMBER 5 & 6 VOLUME 65:406-413 From the Director, Department of Medicine, Mount Sinai Services at Queens Hospital Center, Jamaica, NY, and Professor of Medicine, Mount Sinai School of Medicine, New York, NY. Address correspondence to Fred Rosner, M.D., F.A.C.P., Queens Hospital Center, 82-68 164th Street, Jamaica, NY 11432 or address e-mail to: [email protected] Presented at the 8th annual International Conference on Jewish Medical Ethics. San Francisco, CA, February 15, 1997. Fred Rosner, M.D., F.A.C.P., Professor of Medicine at Mount Sinai School of Medicine, currently serves as the Director, Department of Medicine, Queens Hospital Center in New York City. Dr. Rosner, an internationally known authority on medical ethics, is the founding and former Chairman of the Medical Ethics Committee of the Medical Society of the State of New York and is the former Co-Chairman of the Medical Ethics Committee of the Federation of Jewish Philanthropies of New York. Dr. Rosner, a prolific writer, is the author of widely acclaimed books and articles on Jewish medical ethics and Jewish medical history. He also serves as a reviewer and editor for many medical journals. In part 2, we continue to review a presentation and essay by Dr. Fred Rosner delivered on February 15, 1997 at the 8th annual Conference on Jewish Medical Ethics, San Francisco, California.
    [Show full text]
  • Environmental Nutrition: Redefining Healthy Food
    Environmental Nutrition Redefining Healthy Food in the Health Care Sector ABSTRACT Healthy food cannot be defined by nutritional quality alone. It is the end result of a food system that conserves and renews natural resources, advances social justice and animal welfare, builds community wealth, and fulfills the food and nutrition needs of all eaters now and into the future. This paper presents scientific data supporting this environmental nutrition approach, which expands the definition of healthy food beyond measurable food components such as calories, vitamins, and fats, to include the public health impacts of social, economic, and environmental factors related to the entire food system. Adopting this broader understanding of what is needed to make healthy food shifts our focus from personal responsibility for eating a healthy diet to our collective social responsibility for creating a healthy, sustainable food system. We examine two important nutrition issues, obesity and meat consumption, to illustrate why the production of food is equally as important to consider in conversations about nutrition as the consumption of food. The health care sector has the opportunity to harness its expertise and purchasing power to put an environmental nutrition approach into action and to make food a fundamental part of prevention-based health care. but that it must come from a food system that conserves and I. Using an Environmental renews natural resources, advances social justice and animal welfare, builds community wealth, and fulfills the food and Nutrition Approach to nutrition needs of all eaters now and into the future.i Define Healthy Food This definition of healthy food can be understood as an environmental nutrition approach.
    [Show full text]