Genetics MOLECULAR and HUMAN GENETICS 2021

Total Page:16

File Type:pdf, Size:1020Kb

Genetics MOLECULAR and HUMAN GENETICS 2021 One Baylor Plaza Houston, Texas, USA 77030 MS BCM225 bcm.edu/genetics MOLECULAR AND HUMAN GENETICS 2021 Keep up to date on all the latest news and advances from the Department of Molecular and Human Genetics at Baylor College of Medicine. Scan this QR code on your smart phone to link to our website or visit bcm.edu/genetics Accreditation Baylor College of Medicine is accredited by the Southern Association of Colleges and Schools Commission on Colleges to award masters and doctorate degrees. Contact the Commission on Colleges at 1866 Southern Lane, Decatur, GA 30033-4097 or call (404) 679-4500 for questions about the accredi- tation of Baylor College of Medicine. The Commission should be contacted only if there is evidence that appears to support Baylor's significant non-compliance with a requirement or standard. Baylor College of Medicine Diversity and Inclusion Policy Baylor College of Medicine fosters diversity among its students, trainees, faculty and staff as a prerequi- site to accomplishing our institutional mission, and setting standards for excellence in training healthcare providers and biomedical scientists, promoting scientific innovation, and providing patient-centered care. • Diversity, respect, and inclusiveness create an environment that is conducive to academic excellence, and strengthens our institution by increasing talent, encouraging creativity, and ensuring a broader perspective. • Diversity helps position Baylor to reduce disparities in health and healthcare access and to better address the needs of the community we serve. • Baylor is committed to recruiting and retaining outstanding students, trainees, faculty and staff from diverse backgrounds by providing a welcoming, supportive learning environment for all members of the Baylor community. Notice of Nondiscrimination Baylor College of Medicine is committed to a safe and supportive learning and working environment for its learners, faculty and staff. College policy prohibits discrimination on the basis of race, color, age, reli- gion, gender, gender identity or expression, sexual orientation, national origin, veteran status, disability or genetic information. Harassment based on any of these classifications is a form of discrimination and also violates College police (02.2.25, 02.2.26) and will not be tolerated. In some circumstances, such discrimi- natory harassment also may violate federal, state, or local law. MOLECULAR AND HUMAN GENETICS BCM.EDU/GENETICS Message from the Chair I am pleased to introduce you to the Depart- ment of Molecular and Human Genetics at Baylor College of Medicine. Our mission is to transform medicine with the practice and science of genet- ics and genomics. The integrated research, clinical, and diagnostic activities housed within our de- partment have led in the transformation of genetic medicine. In spite of the challenges of the COV- ID19 pandemic, our team continues to excel in all aspects of our mission. We continue to be a top-ranked genetics depart- ment. Among other U.S. genetics departments, our department has consistently ranked first in to- tal awarded NIH funding and total number of NIH grants. We continue to be leaders in the diagnostic test- leading to new gene discoveries and advance- ing arena with our joint venture with H.U. Group ments in the implementation of genetics and Holdings, Inc., Baylor Genetics. This jointly gov- genomics. These consortia include the All of Us erned laboratory continues to support the aca- program, the Undiagnosed Diseases Network, demic mission and innovation of the department the Centers for Mendelian Genomics, the Knock- while promising to extend the impact of genetic out Mouse Phenotyping Program, the Center for diagnostic testing world-wide including, most re- Precision Medicine Models, Clinical Genome Re- cently, for infectious diseases. source, Clinical Sequencing Evidence-Generating Research, and the Rare Diseases Clinical Research On the clinical front, in 2016, we established the Network. Baylor College of Medicine & Chinese University of Hong Kong Center for Medical Genetics where Ultimately, the innovation that has characterized our faculty is delivering the department's clinical, our department continues to reside in our two training, and research missions to a global venue. greatest assets: our renowned faculty and trainees. Since then, we led the development of a new Best regards, masters in genetic counseling program and in 2018, it's inaugural class began their studies. Also in 2018, we launched a new web-based platform called Consultagene, with the aim of expanding the department’s comprehensive genetic services Brendan Lee, MD, PhD and providing patient education, genetic counsel- Robert and Janice McNair Endowed Chair ing, peer-to-peer medical consultations in a virtual in Molecular and Human Genetics setting. In addition, new and continuing consortia with the National Institutes of Health and industry are CONTENTS About the Department 4 Graduate and Medical Education 6 Clinical Affairs 11 Diagnostic Laboratory Affairs 15 Community Outreach 17 Research Faculty 18 Primary Appointments 19 Secondary Appointments 86 Baylor College of Medicine 98 Texas Medical Center 99 Houston 100 Baylor College of Medicine Affiliated Hospitals, Institutions, and Facilities Map 101 ABOUT THE DEPARTMENT Huda Zoghbi, MD and Rodney Samaco, PhD Jim Lupski, MD, PhD and Pengfei Liu, PhD he Institute for Molecular Genetics was created tion for the Advancement of Science. in 1985 and the Department of Molecular and Human Genetics was established in 1994. The The Human Genome Sequencing Center led by Rich- TDepartment embodies five decades of organized ard Gibbs, PhD, Wofford Cain Chair in Molecular and genetics activity at Baylor College of Medicine. Starting Human Genetics, is a major strength of the environment, in the 1970’s with the arrival of Drs. C. Thomas Caskey and the Genome Center faculty members all have primary and the Henry and Emma Meyer Chair of Molecular and academic appointments in the Department. Other aca- Human Genetics, Dr. Arthur Beaudet, it has become the demic centers and units led by genetics faculty include the leading genetics program in the world. The Department Neurological Research Institute led by Dr. Huda Zoghbi is currently chaired by Dr. Brendan Lee, the Robert and and the Huffington Center on Aging led by Dr. Hui Zheng. Janice McNair Endowed Chair in Molecular and Human Genetics, and offers a variety of research, clinical, and Among genetics departments at U.S. medical schools, training programs in genetics and genomics to graduate we continue to rank highest in both the number of grants students, medical students, postdoctoral research fellows, and total funding from the National Institutes of Health. and medical genetics residents. The Department inte- Our facilities are equipped with state-of-the-art instrumen- grates basic research in genetic and genomic mechanisms; tation for research in molecular, cellular, and biochemical translational research in disease models; observational and genetics. Within the Department are also several special- therapeutic clinical trials in rare and common genetic dis- ized research centers that galvanize collaboration among eases; prenatal, pediatric, and adult medical genetics care; faculty at Baylor. We also have extended our mission and cutting-edge genetic diagnostic services. globally with a clinical center at The Chinese University of Hong Kong and the joint venture diagnostic laboratory, There are over 140 primary faculty spanning all of the Baylor Genetics, with H.U. Group Holdings, Inc. The De- missions of the Department. The research faculty are partment's various research, clinical, and administrative joined by clinical faculty, genetic counseling faculty, and activities currently occupy about 175,000 square feet of diagnostic laboratory faculty in our mission to transform space. Because of this rich environment, the Department the practice of medicine with the science of genetics. Our continues to be a magnet for trainees interested in genet- primary faculty include three members of the National ics while continuing to grow in breadth, depth, and ac- Academy of Sciences, six members of the National Acad- complishments. emy of Medicine, and six fellows of the American Associa- 4 GRADUATE ANDABOUT MEDICAL THE DEPARTMENT EDUCATION Department Leadership CHAIRMAN Brendan Lee, MD, PhD DEPARTMENT ADMINISTRATOR FACULTY ADVISORY Laura Rosales, EdD, COMMITTEE MBA DIAGNOSTIC LABORATORY RESEARCH AFFAIRS EDUCATIONAL AFFAIRS CLINICAL AFFAIRS OFFICE OF AFFAIRS Vice Chairs Vice Chairs Vice Chair COMMUNITY ENGAGEMENT Vice Chair Shashi Kulkarni, PhD & DIVERSITY Baylor Genetics Lab Gad Shaulsky, PhD Carlos Bacino, MD Graduate Education Directors Christine Eng, MD Susan Fernbach, RN Kim Worley, PhD Lorriane Potocki, MD Basic & Translational Undergraduate Medical Education Debra Murray, PhD Sandesh Nagamani, Daniel Riconda, MS, CGC MD Masters of Genetic Clinical Counseling Program V. Reid Sutton, MD Graduate Medical Education Susan Rosenberg, PhD Penelope Bonnen, PhD and Alison Bertuch, MD, PhD Andy Groves, PhD Ben Arenkiel, PhD 5 GRADUATE AND MEDICAL EDUCATION Division of Educational Affairs Director: Gad Shaulsky, PhD, Associate Directors: Graeme Mardon, PhD, & Meng Wang, PhD Gad Shaulsky, PhD Program Executive Committee Vice Chair Chonghui Cheng, MD, PhD Christophe Herman, PhD Gad Shaulsky, PhD EDUCATIONAL AFFAIRS William Craigen, MD, PhD Graeme Mardon, PhD Shinya Yamamoto, DVM, PhD Graduate Education Herman Dierick,
Recommended publications
  • Download (Pdf)
    Invivoscribe's wholly-owned Laboratories for Personalized Molecular LabPMM LLC Medicine® (LabPMM) is a network of international reference laboratories that provide the medical and pharmaceutical communities with worldwide Located in San Diego, California, USA, it holds access to harmonized and standardized clinical testing services. We view the following accreditations and certifications: internationally reproducible and concordant testing as a requirement for ISO 15189, CAP, and CLIA, and is licensed to provide diagnostic consistent stratification of patients for enrollment in clinical trials, and the laboratory services in the states of California, Florida, foundation for establishing optimized treatment schedules linked to patient’s Maryland, New York, Pennsylvania, and Rhode Island. individual profile. LabPMM provides reliable patient stratification at diagnosis LabPMM GmbH and monitoring, throughout the entire course of treatment in support of Personalized Molecular Medicine® and Personalized Based in Martinsried (Munich), Germany. It is an ISO 15189 Molecular Diagnostics®. accredited international reference laboratory. CLIA/CAP accreditation is planned. Invivoscribe currently operates four clinical laboratories to serve partners in the USA (San Diego, CA), Europe (Munich, Germany), and Asia (Tokyo, Japan and Shanghai, China). These laboratories use the same critical LabPMM 合同会社 reagents and software which are developed consistently with ISO Located in Kawasaki (Tokyo), Japan and a licensed clinical lab. 13485 design control. Our cGMP reagents, rigorous standards for assay development & validation, and testing performed consistently under ISO 15189 requirements help ensure LabPMM generates standardized and concordant test results worldwide. Invivoscribe Diagnostic Technologies (Shanghai) Co., Ltd. LabPMM is an international network of PersonalMed Laboratories® focused on molecular oncology biomarker studies. Located in Shangai, China.
    [Show full text]
  • IDH2 Mutations—Co-Opting Cellular Metabolism for Malignant Transformation Eytan M
    Published OnlineFirst November 9, 2015; DOI: 10.1158/1078-0432.CCR-15-0362 Molecular Pathways Clinical Cancer Research Molecular Pathways: IDH2 Mutations—Co-opting Cellular Metabolism for Malignant Transformation Eytan M. Stein Abstract Mutations in mitochondrial IDH2, one of the three isoforms function that catalyzes the conversion of alpha-ketoglutarate to of IDH, were discovered in patients with gliomas in 2009 and beta-hydroxyglutarate (2-HG). Supranormal levels of 2-HG subsequently described in acute myelogenous leukemia (AML), lead to hypermethylation of epigenetic targets and a subse- angioimmunoblastic T-cell lymphoma, chondrosarcoma, and quent block in cellular differentiation. AG-221, a small-mole- intrahepatic chloangiocarcinoma. The effects of mutations in cule inhibitor of mutant IDH2, is being explored in a phase I IDH2 on cellular metabolism, the epigenetic state of mutated clinical trial for the treatment of AML, other myeloid malig- cells, and cellular differentiation have been elucidated in vitro nancies, solid tumors, and gliomas. Clin Cancer Res; 22(1); 16–19. and in vivo.MutationsinIDH2 lead to an enzymatic gain of Ó2015 AACR. Background Interestingly, in a screen of 398 patients with AML, TET2 and IDH2 mutations were mutually exclusive, suggesting that these Isocitrate dehydrogenase (IDH) catalyzes the conversion of two mutations have a similar function. Wild-type TET2 demethy- isocitrate to alpha-ketoglutarate. IDH occurs in three isoforms, lates DNA, and mutations in TET2 lead to increases in 5-methyl- IDH1, located in the cytoplasm, IDH2 located in the mitochon- cytosine similar to those seen in patients with IDH mutations. It dria, and IDH3, which functions as part of the tricarboxylic acid has been suggested that elevated levels of 2-HG caused by mutant cycle.
    [Show full text]
  • Huda Y. Zoghbi, MD, Howard Hughes Medical Institute, Jan and Dan Duncan Neurological Research Institute at Texas Children’S Hospital and Baylor College of Medicine
    Investigator Spotlight: Huda Y. Zoghbi, MD, Howard Hughes Medical Institute, Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital and Baylor College of Medicine It is hard to believe that the 7th World Rett Syndrome Congress has come and gone with great success! Now with summer upon us, IRSF continues to move the spotlight to the committed scientists who have made the World Congress an impressive, high quality meeting with outstanding presentations and discussions. This month we are honored to focus on Dr. Huda Zoghbi who had co-chaired the Basic Research Symposium at the World Congress along with Dr. Gail Mandel. Together, they had produced an exciting lineup of speakers who were encouraged to present new, unpublished data in an effort to foster new ideas that will help chart the course for Rett syndrome research. Dr. Zoghbi is a Howard Hughes Medical Institute (HHMI) Investigator, the Director of the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital, and Professor of the Baylor College of Medicine in Houston, TX. She received her medical degree from Meharry Medical College and completed residency training in pediatrics and neurology at Baylor College of Medicine where she encountered her first Rett syndrome patient in 1983. Dr. Zoghbi was inspired to receive additional research training in the area molecular genetics and upon completion she joined the faculty of Baylor College of Medicine. In 1999, Dr. Zoghbi and collaborators including research fellow Ruthie Amir made a major breakthrough for Rett syndrome. They had discovered that mutations in MECP2, the gene encoding methyl-CpG-binding protein 2, causes Rett syndrome.
    [Show full text]
  • UC San Diego UC San Diego Electronic Theses and Dissertations
    UC San Diego UC San Diego Electronic Theses and Dissertations Title Spinocerebellar Ataxia Type 7 is Characterized by Defects in Mitochondrial and Metabolic Function Permalink https://escholarship.org/uc/item/02b7m809 Author Ward, Jacqueline Marie Publication Date 2016 Supplemental Material https://escholarship.org/uc/item/02b7m809#supplemental Peer reviewed|Thesis/dissertation eScholarship.org Powered by the California Digital Library University of California UNIVERSITY OF CALIFORNIA, SAN DIEGO Spinocerebellar Ataxia Type 7 is Characterized by Defects in Mitochondrial and Metabolic Function A dissertation submitted in partial satisfaction of the requirements for the degree Doctor of Philosophy in Biomedical Sciences by Jacqueline Marie Ward Committee in charge: Professor Albert La Spada, Chair Professor Eric Bennett Professor Lawrence Goldstein Professor Alysson Muotri Professor Miles Wilkinson 2016 Copyright Jacqueline Marie Ward, 2016 All rights reserved The Dissertation of Jacqueline Marie Ward is approved, and it is acceptable in quality and form for publication on microfilm and electronically: Chair University of California, San Diego 2016 iii DEDICATION This work is dedicated to my grandfather, Dr. Wayne Ward, the kindest person I’ve ever known. His memory inspires me to be a better person daily. iv TABLE OF CONTENTS SIGNATURE PAGE .......................................................................................... iii DEDICATION ..................................................................................................
    [Show full text]
  • A Computational Approach for Defining a Signature of Β-Cell Golgi Stress in Diabetes Mellitus
    Page 1 of 781 Diabetes A Computational Approach for Defining a Signature of β-Cell Golgi Stress in Diabetes Mellitus Robert N. Bone1,6,7, Olufunmilola Oyebamiji2, Sayali Talware2, Sharmila Selvaraj2, Preethi Krishnan3,6, Farooq Syed1,6,7, Huanmei Wu2, Carmella Evans-Molina 1,3,4,5,6,7,8* Departments of 1Pediatrics, 3Medicine, 4Anatomy, Cell Biology & Physiology, 5Biochemistry & Molecular Biology, the 6Center for Diabetes & Metabolic Diseases, and the 7Herman B. Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, IN 46202; 2Department of BioHealth Informatics, Indiana University-Purdue University Indianapolis, Indianapolis, IN, 46202; 8Roudebush VA Medical Center, Indianapolis, IN 46202. *Corresponding Author(s): Carmella Evans-Molina, MD, PhD ([email protected]) Indiana University School of Medicine, 635 Barnhill Drive, MS 2031A, Indianapolis, IN 46202, Telephone: (317) 274-4145, Fax (317) 274-4107 Running Title: Golgi Stress Response in Diabetes Word Count: 4358 Number of Figures: 6 Keywords: Golgi apparatus stress, Islets, β cell, Type 1 diabetes, Type 2 diabetes 1 Diabetes Publish Ahead of Print, published online August 20, 2020 Diabetes Page 2 of 781 ABSTRACT The Golgi apparatus (GA) is an important site of insulin processing and granule maturation, but whether GA organelle dysfunction and GA stress are present in the diabetic β-cell has not been tested. We utilized an informatics-based approach to develop a transcriptional signature of β-cell GA stress using existing RNA sequencing and microarray datasets generated using human islets from donors with diabetes and islets where type 1(T1D) and type 2 diabetes (T2D) had been modeled ex vivo. To narrow our results to GA-specific genes, we applied a filter set of 1,030 genes accepted as GA associated.
    [Show full text]
  • Program Book
    PARKINSON’SDISEASE2014 ADVANCING RESEARCH, IMPROVING LIVES PROGRAM MATERIALS Sponsored by: January 6 – 7, 2014 Natcher Conference Center National Institutes of Health Bethesda, MD About our cover: The program cover image is a stylized version of the Parkinson’s Disease Motor-Related Pattern (PDRP), an abnormal pattern of regional brain function observed in MRI studies which shows increased metabolism indicated by red in some brain regions (pallidothalamic, pontine, and motor cortical areas), and decreased metabolism indicated by blue in others (associated lateral premotor and posterior parietal areas). Original image used with permission of David Eidelberg, M.D. For further information see: Hirano et al., Journal of Neuroscience 28 (16): 4201-4209. Welcome Message from Dr. Story C. Landis Welcome to the National Institute of Neurological Disorders and Stroke (NINDS) conference, “Parkinson’s Disease 2014: Advancing Research, Improving Lives.” Remarkable new discoveries and technological advances are rapidly changing the way we study the biological mechanisms of Parkinson’s disease, identify paths to improved treatments, and design effective clinical trials. Elucidating mechanisms and developing and testing effective interventions require a diverse set of approaches and perspectives. The NINDS has organized this conference with the primary goal of seeking consensus on, and prioritizing, research recommendations spanning clinical, translational, and basic Parkinson’s disease research that we support. We have assembled a stellar and dedicated group of session chairs and panelists who have worked collaboratively to identify emerging research opportunities in Parkinson’s research. While we have divided our working groups into three main research areas, we expect each will inform the others over the course of the next two days, and we look forward to both complementary and unique perspectives.
    [Show full text]
  • Huda Zoghbi: Taking Genetic Inquiry to the Next Level
    Spectrum | Autism Research News https://www.spectrumnews.org NEWS, PROFILES Huda Zoghbi: Taking genetic inquiry to the next level BY RACHEL ZAMZOW 25 JUNE 2021 Listen to this story: Most mornings, Huda Zoghbi, 67, climbs a glass-encased, curling staircase to reach her lab on the top and 13th floor of the Jan and Dan Duncan Neurological Research Institute in Houston, Texas. The twisting glass tower, which she designed with a team of architects, echoes the double helix of DNA — a structure that has been central to her career-long quest to uncover genes underlying neurological conditions. As the institute’s director — and as a scientist— she is known for going beyond the standard job description. Genetics researchers often cast a wide net and sequence thousands of genes at a time. But in her prolific career, Zoghbi has focused on a handful of genes, methodically building up an understanding of their function one careful step at a time. Thanks to that approach, Zoghbi has made a number of landmark discoveries, including identifying the genetic roots of Rett syndrome, an autism-related condition that primarily affects girls, as well as the genetic mutations that spur spinocerebellar ataxia, a degenerative motor condition. She has authored more than 350 journal articles. Her accomplishments have earned her almost every major biology and neuroscience research award, including the prestigious Breakthrough Prize in 2017 and the Brain Prize in 2020. “She’s clearly the international leader in the field,” said the late Stephen Warren, professor of human genetics at Emory University in Atlanta, Georgia. Zoghbi never set out to lead a large research center, she says — her heart is in the lab.
    [Show full text]
  • 2016 Joint Meeting Program
    April 15 – 17, 2016 Fairmont Chicago Millennium Park • Chicago, Illinois The AAP/ASCI/APSA conference is jointly provided by Boston University School of Medicine and AAP/ASCI/APSA. Meeting Program and Abstracts www.jointmeeting.org www.jointmeeting.org Special Events at the 2016 AAP/ASCI/APSA Joint Meeting Friday, April 15 Saturday, April 16 ASCI President’s Reception ASCI Food and Science Evening 6:15 – 7:15 p.m. 6:30 – 9:00 p.m. Gold Room The Mid-America Club, Aon Center ASCI Dinner & New Member AAP Member Banquet Induction Ceremony (Ticketed guests only) (Ticketed guests only) 7:00 – 10:00 p.m. 7:30 – 9:45 p.m. Imperial Ballroom, Level B2 Rouge, Lobby Level How to Solve a Scientific Puzzle: Speaker: Clara D. Bloomfield, MD Clues from Stockholm and Broadway The Ohio State University Comprehensive Cancer Center Speaker: Joe Goldstein, MD APSA Welcome Reception & University of Texas Southwestern Medical Center at Dallas Presidential Address APSA Dinner (Ticketed guests only) 9:00 p.m. – Midnight Signature Room, 360 Chicago, 7:30 – 9:00 p.m. John Hancock Center (off-site) Rouge, Lobby Level Speaker: Daniel DelloStritto, APSA President Finding One’s Scientific Niche: Musings from a Clinical Neuroscientist Speaker: Helen Mayberg, MD, Emory University Dessert Reception (open to all attendees) 10:00 p.m. – Midnight Imperial Foyer, Level B2 Sunday, April 17 APSA Future of Medicine and www.jointmeeting.org Residency Luncheon Noon – 2:00 p.m. Rouge, Lobby Level 2 www.jointmeeting.org Program Contents General Program Information 4 Continuing Medical Education Information 5 Faculty and Speaker Disclosures 7 Scientific Program Schedule 9 Speaker Biographies 16 Call for Nominations: 2017 Harrington Prize for Innovation in Medicine 26 AAP/ASCI/APSA Joint Meeting Faculty 27 Award Recipients 29 Call for Nominations: 2017 Harrington Scholar-Innovator Award 31 Call for Nominations: George M.
    [Show full text]
  • 22Q11 Deletion Syndrome: Current Perspective
    The Application of Clinical Genetics Dovepress open access to scientific and medical research Open Access Full Text Article REVIEW 22q11 deletion syndrome: current perspective Bülent Hacıhamdioğlu1 Abstract: Chromosome 22q11 is characterized by the presence of chromosome-specific low- Duygu Hacıhamdioğlu2 copy repeats or segmental duplications. This region of the chromosome is very unstable and Kenan Delil3 susceptible to mutations. The misalignment of low-copy repeats during nonallelic homologous recombination leads to the deletion of the 22q11.2 region, which results in 22q11 deletion syn- 1Department of Pediatric Endocrinology, 2Department of drome (22q11DS). The 22q11.2 deletion is associated with a wide variety of phenotypes. The Pediatric Nephrology, GATA term 22q11DS is an umbrella term that is used to encompass all 22q11.2 deletion-associated Haydarpasa Training Hospital, phenotypes. The haploinsufficiency of genes located at 22q11.2 affects the early morphogen- 3Department of Medical Genetics, Marmara University, School of esis of the pharyngeal arches, heart, skeleton, and brain. TBX1 is the most important gene for Medicine, Istanbul, Turkey 22q11DS. This syndrome can ultimately affect many organs or systems; therefore, it has a For personal use only. very wide phenotypic spectrum. An increasing amount of information is available related to the pathogenesis, clinical phenotypes, and management of this syndrome in recent years. This review summarizes the current clinical and genetic status related to 22q11DS. Keywords: DiGeorge syndrome, velocardiofacial syndrome, TBX1 Introduction Congenital absence of a thymus and parathyroid gland was reported by Dr Angelo M DiGeorge in 1965. Later, cardiac anomalies were added to the phenotype, and the syndrome was named DiGeorge syndrome (DGS; Mendelian Inheritance in Man [MIM] number 188400).1 Most patients with DGS have monosomic deletions on the long arm of chromosome 22.
    [Show full text]
  • Src-Family Kinases Impact Prognosis and Targeted Therapy in Flt3-ITD+ Acute Myeloid Leukemia
    Src-Family Kinases Impact Prognosis and Targeted Therapy in Flt3-ITD+ Acute Myeloid Leukemia Title Page by Ravi K. Patel Bachelor of Science, University of Minnesota, 2013 Submitted to the Graduate Faculty of School of Medicine in partial fulfillment of the requirements for the degree of Doctor of Philosophy University of Pittsburgh 2019 Commi ttee Membership Pa UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE Commi ttee Membership Page This dissertation was presented by Ravi K. Patel It was defended on May 31, 2019 and approved by Qiming (Jane) Wang, Associate Professor Pharmacology and Chemical Biology Vaughn S. Cooper, Professor of Microbiology and Molecular Genetics Adrian Lee, Professor of Pharmacology and Chemical Biology Laura Stabile, Research Associate Professor of Pharmacology and Chemical Biology Thomas E. Smithgall, Dissertation Director, Professor and Chair of Microbiology and Molecular Genetics ii Copyright © by Ravi K. Patel 2019 iii Abstract Src-Family Kinases Play an Important Role in Flt3-ITD Acute Myeloid Leukemia Prognosis and Drug Efficacy Ravi K. Patel, PhD University of Pittsburgh, 2019 Abstract Acute myelogenous leukemia (AML) is a disease characterized by undifferentiated bone-marrow progenitor cells dominating the bone marrow. Currently the five-year survival rate for AML patients is 27.4 percent. Meanwhile the standard of care for most AML patients has not changed for nearly 50 years. We now know that AML is a genetically heterogeneous disease and therefore it is unlikely that all AML patients will respond to therapy the same way. Upregulation of protein-tyrosine kinase signaling pathways is one common feature of some AML tumors, offering opportunities for targeted therapy.
    [Show full text]
  • An Eye to the Future Advances in Imaging Are Accelerating the Pace of Biological Discovery
    fall 2007 An Eye to the Future Advances in imaging are accelerating the pace of biological discovery. A new cellular imaging initiative at the University has researchers seeing small and thinking big. story on page 8 p r o f i l e s college News c l a s s N o t e s from the dean Where curiosity- and solution- driven science meet ome scientists are driven by a curiosity to under- As a curiosity-driven college, it’s CBS’ job to keep S stand how life works—from molecules to eco- adding to the foundation of knowledge that supports systems—and to add to the world’s collective body of translational and solution-driven science in other col- knowledge. Others are searching for a puzzle piece leges. As such, we are the stewards of the foundational that may yield a better way to treat cancer, produce disciplines in the biological sciences: biochemistry, food or create renewable forms of energy. molecular biology, genetics, cell biology and develop- ment, ecology, plant biology, etc. Both are essential, and there is plenty of overlap Robert Elde, Dean between the two. Curiosity-driven research often turns In order to keep fueling translational and solution- up a bit of information that has immediate applications driven research, we need to infuse foundational disci- in medicine, agriculture or engineering. By the same plines with new technologies and other opportunities token, solution-driven research can add to knowledge. as science evolves. And some scientists travel between these two worlds. Fall 07 Vol. 5 No. 3 Cellular imaging, the subject of our cover story, is one As a whole, College of Biological Sciences faculty of those opportunities.
    [Show full text]
  • View Final Program
    142nd ANNUAL MEETING OF THE AMERICAN ANA2017 NEUROLOGICAL ASSOCIATION SAN DIEGO, CA • OCTOBER 15-17, 2017 SHERATON SAN DIEGO HOTEL & MARINA EXPLORE • EXAMINE • INVESTIGATE FINAL PROGRAM OCTOBER 14, 2017 | Pre-Meeting Symposium: Big Science and the BRAIN Initiative 2017.MYANA.org 142nd ANNUAL MEETING OF THE AMERICAN ANA2017 NEUROLOGICAL ASSOCIATION SAN DIEGO, CA • OCTOBER 15 -17, 2017 SHERATON SAN DIEGO HOTEL & MARINA ND Please note some session titles may have changed since this program was printed. Please refer THE 142 ANA to your Mobile app for the most current session updates. ANNUAL MEETING LETTER FROM THE CHAIR 3 Enjoy outstanding scientific SCHEDULE AT A GLANCE 4 symposia covering the latest HOTEL FLOOR PLANS 6 research in the fields of neurology and neuroscience GENERAL INFORMATION 7 while taking the opportunity WIRELESS CONNECTION 8 to network with leaders in the world of academic neurology CONTINUING MEDICAL EDUCATION 8 at the 142nd ANA Annual ANNUAL MEETING MOBILE APP 8 Meeting in San Diego, CA, October 15-17, 2017. PROGRAMS BY DAY 9 SATURDAY OCT 14 9 MEETING LOCATION SUNDAY OCT 15 9 Sheraton San Diego MONDAY OCT 16 17 Hotel & Marina 1380 Harbor Island Drive TUESDAY OCT 17 25 San Diego, California 92101 IN MEMORIAM 28 ONSITE MEETING CONTACTS SPEAKER ABSTRACTS 29 Registration and meeting questions: THANK YOU TO OUR SUPPORTERS & EXHIBITORS 42 [email protected] FUTURE MEETING DATES 42 OR visit the registration desk Bay View Foyer 2017 AWARDEES 43 (located in Marina Tower Lobby Level) ACADEMIC NEUROLOGY REPRESENTATIVES FROM JAPAN 47 Saturday, October 14 2017 ABSTRACT REVIEWERS 48 3:00 PM–7:00 PM BOARD OF DIRECTORS 49 Sunday, October 15 6:00 AM–5:45 PM ANA 2017 COMMITTEES, SUBCOMMITTEES & TASK FORCES 50 Monday, October 16 6:30 AM–5:45 PM Tuesday, October 17 6:30 AM–2:15 PM #ANAMTG2017 ANA 2017 FROM THE CHAIR Dear Colleagues, It is a pleasure to welcome you to the 142nd Annual Meeting of the American Neurological Association (ANA).
    [Show full text]