Neurogenetics101
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Fuki M. Hisama, MD, FAAN, FACMG
Professor, University of Washington
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Fuki M. Hisama is Professor of Medical Genetics and Adjunct Professor of Neurology at the University of Washington in Seattle. She is a graduate of the University of Chicago Pritzker School of Medicine, completed her Internal Medicine internship at Northwestern Memorial Hospital, and her Neurology residency at Yale New Haven Hospital, where she served as Chief Resident. She completed research and clinical fellowships in Human and Medical Genetics at Yale.
She joined the faculty of the Yale Department of Neurology, where she founded the Adult Neurogenetics Clinic. She moved to Boston Children’s Hospital where she was an attending clinical geneticist specializing in pediatric neurogenetics. For the past 12 years, she has been the medical director of the University of Washington Adult Genetic Medicine Clinic, which serves a 5 state region, and she is also the Program Director of the accredited residency in Clinical Genetics and Genomics and Co-PI of an NIH funded T32 postdoctoral Genetics fellowship.
Dr. Hisama has a national reputation as a clinician, scholar and educator in Clinical Genetics and Neurogenetics. She has co-authored over 90 peer reviewed publications, and been interviewed by multiple media outlets including Discover magazine and National Public Radio. She is a lead clinician for the Pacific Northwest Undiagnosed Diseases Clinical Site, and has served in multiple national leadership roles for the Accreditation Council of Graduate Medical Education, the American College of Medical Genetics and Genomics, the Board of Directors of the American Board of Medical Genetics and Genomics, and served as Section Chair of the American Academy of Neurology’s Neurogenetics Special Interest Group. She has earned an award from UW School of Medicine for her mentorship of underrepresented faculty and trainees, and in 2020, she received an award for outstanding research mentorship of medical students.
Prenatal Genetics101
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Susan Klugman MD, FACMG, FACOG
Director, Reproductive and Medical Genetics
Montefiore Medical Center/Albert Einstein College of Medicine
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Dr. Klugman is currently the Director of the Division of Reproductive and Medical Genetics. Her clinical practice focuses on prenatal and cancer genetics. She is also the Program Director for the Clinical Medical Genetics Residency that spans both the Department of Pediatrics and the Department of Obstetrics & Gynecology and Women's Health. Dr. Klugman graduated from Cornell University with a BS with honors in Biometry and Statistics. She then earned her MD from New York University School of Medicine. Dr. Klugman completed her Ob/GYN and Clinical Genetics training at the Albert Einstein College of Medicine/Montefiore Medical Center. She practiced as an Ob/GYN generalist for 10 years and served as the medical director of the Larchmont Women’s Center before completing her genetics training. Dr. Klugman, a Professor of Obstetrics & Gynecology and Women's Health, is Board Certified in both Clinical Genetics and Obstetrics/Gynecology
Online Genetics Resources101
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Anne O’Donnell-Luria, MD, PhD, FACMG
Assistant Professor
Boston Children’s Hospital, Broad Institute of MIT and Harvard, and Harvard Medical School
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Anne O'Donnell-Luria is an Assistant Professor in Pediatrics at Harvard Medical School who leads a research group at Boston Children’s Hospital and the Broad Institute of MIT and Harvard. She completed her M.D./Ph.D. training at Columbia University Medical Center followed by the Five-Year Boston Children's Hospital and Harvard Medical School Combined Pediatrics-Genetics Residency Program, an additional year of clinical training in medical biochemical genetics, and postdoctoral training in the MacArthur laboratory at the Broad Institute and Massachusetts General Hospital. She has leadership roles in many national and international efforts in rare disease research including the GREGoR consortium, the gnomAD consortium, the NeuroDev project, AnVIL, CAGI, and the Syndromic Disorders GCEP in ClinGen. Her research focuses on using large-scale genomic and transcriptomic approaches to increase the rate of rare disease diagnosis through improving rare variant interpretation, empowering the discovery of novel disease genes, and understanding the mechanisms of incomplete penetrance. She is a board-certified physician in pediatrics, clinical genetics, and medical biochemical genetics and directs the EpiChroma Clinic at Boston Children’s Hospital focused on evaluating families with Mendelian chromatin disorders such as Kleefstra syndrome.
Inherited Cancer Syndromes101
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Tuya Pal, MD, FACMG
Professor of Medicine (Genetic Medicine)
Associate Director, Cancer Health Disparities
Vanderbilt-Ingram Cancer Center
Vanderbilt University Medical Center
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Dr. Pal is a board-certified clinical geneticist based at the Vanderbilt University Medical Center and is the Associate Director of Cancer Health Disparities at the Vanderbilt-Ingram Cancer Center. Her research is focused on identification of genetic risk factors that place individuals at a higher risk for cancer, as well as strategies to reduce this risk. These efforts have included a focus on underserved populations, particularly young Black women with breast cancer. She has also led multiple efforts to better understand the provision of clinical cancer genetic services across diverse populations, healthcare settings, and providers, at both the patient and provider level. The focus of her clinical activities has encompassed evaluation of patients referred for genetic risk assessment for inherited cancer predisposition. She has served as a panel member of the NCCN guidelines committee (for hereditary breast/ovarian cancer) since 2009 as well as a member of the NCI Cancer Genetics PDQ.
Genetics101 for the Primary Care Provider (Adult)
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Shweta Dhar, MD, MS, FACMG, FACP (Course Director)
Medical Director, Adult Genetics Section
Baylor College of Medicine
Chief, Genetics Section
Michael E. Debakey VA Medical Center
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Dr. Shweta U. Dhar, Professor of Molecular and Human Genetics is the Director of the Adult Genetics section at Baylor College of Medicine, Chief of Genetics at the Michael E. Debakey VA Medical Center in Houston, TX and VISN16 Lead for Genomic Medicine and is board certified in both Internal Medicine and Medical Genetics. She completed her residency in Pathology from the Gujarat Cancer & Research Institute in Ahmedabad, INDIA, and she moved to the U.S. to complete a Master’s degree in Biotechnology from Stephen F. Austin State University, Nacogdoches, TX and subsequently a residency in Internal medicine from New York. After completing a fellowship in Medical Genetics at Baylor College of Medicine in Houston, TX, she joined as faculty at Baylor and has been practicing clinical genetics since 2008. In addition to her clinical role, she also serves as the course director for Medical Genetics and is the past Director of the Genetics & Genomics Pathway for the medical students at Baylor. In recognition of her educational and clinical endeavors, she has been awarded the Norton Rose Fulbright award for Teaching & Evaluation and for Educational Leadership as well as the Rising Star Clinician award and the Clark Faculty service award at Baylor. Dr. Dhar is a member and past Chair of the ACMG Adult Genetics Special Interest Group that she led from 2013-2019 as well as a member of the ACMG Education Committee. Dr. Dhar has also been responsible for launching the Adult Genetics Diagnostic Dilemma session in 2016, which has now become a permanent feature of the annual ACMG meeting. Recently, she has been elected as clinical director on the ACMG Board of Directors.
Genetics101 for Endocrinologists
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Salman Kirmani MBBS, FABP, FACMG
Associate Professor & Chair,
Division of Women & Child Health, Aga Khan University, Karachi
Consultant Pediatric Endocrinologist & Medical Geneticist
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Dr. Salman Kirmani is a Medical Geneticist & Pediatric Endocrinologist associated with Aga Khan University as an Associate Professor of Paediatrics and Medicine, Chair (Division of Women & Child Health), and Interim Chair (Department of Paediatrics & Child Health). Dr. Kirmani did his MBBS (MD) from Dow Medical College, Karachi followed by Residency & Fellowships from Mayo School of Graduate Medical Education, Mayo Clinic, Rochester, MN. Dr. Kirmani is certified by the American Board of Medical Genetics (Clinical Genetics), and the American Board of Pediatrics (General Pediatrics & Pediatric Endocrinology). He was on faculty at the Mayo Clinic till he returned to Pakistan to join the Aga Khan University in 2014.
Dr. Kirmani has a rich and diverse experience in education, clinical service, research and advocacy. He has authored over 50 peer-reviewed articles and two book chapters, and is part of numerous well-funded research studies in his field. He has won a number of teaching awards, and has successfully trained Pakistan’s first genetic counselor, Ms. Fizza Akbar. Together with his multidisciplinary team at AKU, he has developed a Pediatric Genetics Clinic, Hereditary Cancer Clinic, Adult Neurogenetics Clinic, and a Perinatal Genetics Clinic, the first of their kind in Pakistan. He is on the board of a number of parent support groups for rare genetic disorders, including the Karachi Down Syndrome Program, and DEBRA Pakistan. He continually strives to make the advances in Genetics and Genomics accessible to people in Pakistan, and create a team of healthcare professionals who may deliver Precision Medicine solutions to populations with the highest burden of genetic disorders.
General Overview of Genetics101
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Ben Solomon, MD, FACMG
Clinical Director, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH)
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Dr. Solomon has a medical degree from Geisel School of Medicine at Dartmouth. He completed medical training in pediatrics and clinical genetics through a joint Children’s National/National Human Genome Research Institute program. After completing this program, Dr. Solomon remained at NHGRI for several years as a Staff Clinician; his work focused on understanding the causes and biology of a number of congenital disorders as well as applying emerging technologies and analytic approaches to genomic and phenotypic datasets in order to ask a variety of clinically-relevant research questions.
Dr. Solomon joined the Inova Translational Medicine Institute (ITMI) in 2013 as the Chief of the Division of Medical Genomics. In this role, Dr. Solomon led a team of clinicians, bioinformaticists, and bench-based scientists to deliver clinical care and conduct genomic research. In 2016, Dr. Solomon became the Managing Director of GeneDx, a genetics/genomics diagnostic company with a strong emphasis on research and the discovery of novel causes of disease. In this role, which he held until returning to NHGRI as Clinical Director in 2019, he led a team of over 400 molecular geneticists, genetic counselors, and laboratory and research staff. Throughout his entire career, he has always continued to be an avid participant in clinical genomics education, including formal and informal teaching of medical students, residents, fellows, postdoctoral and other trainees, as well as re-educating the existing clinical and scientific workforce about genomics. Additionally, since 2017, Dr. Solomon served as deputy editor-in-chief and then editor-in-chief for the American Journal of Medical Genetics. He has authored and co-authored more than 140 publications. His research interests involve determining the broad implications of human genomic health, including the development and application of high-throughput and novel related technologies to help predict health outcomes and study the causes and optimal management of both rare and common diseases; his research group at NHGRI especially focuses on the application of artificial intelligence to questions about medical genetics.
Key Principles in Pharmacogenomics101
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Aniwaa Owusu Obeng, PharmD
Assistant Professor, Icahn School of Medicine at Mount Sinai
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Dr. Aniwaa Owusu Obeng is a faculty member of the Charles Bronfman Institute for Personalized Medicine and an Assistant Professor in the Departments of Medicine and Genetics and Genomics Sciences at the Icahn School of Medicine at Mount Sinai (ISMMS) in New York, USA. She also has an appointment in The Mount Sinai Hospital as the Clinical Pharmacogenomics Coordinator. Dr. Obeng joined Mount Sinai in July 2013 and has been spearheading clinical pharmacogenomics implementation efforts in Mount Sinai’s outpatient clinics ever since. As part of this initiative, physicians are trained to use genetic information to inform their prescribing decisions for approximately 2000 preemptively genotyped patients and counting. She has also led the development of provider and patient educational materials and tools on pharmacogenomics as part of this effort. Moreover, Dr. Owusu Obeng directs clinical pharmacogenomics rotations for PGY1 and PGY2 pharmacy residents in the Mount Sinai Health System and Advanced Pharmacy Practice Experience (APPE) rotation for final year student pharmacists.
Dr. Owusu Obeng obtained her Doctor of Pharmacy degree from the Albany College of Pharmacy and Health
Sciences in Albany, NY. She then pursued a clinical residency (PGY1) in general pharmacy practice at the BronxLebanon Hospital Center in Bronx, NY, and subsequently, PGY2 at the University of Florida College of Pharmacy and UF Health Shands Hospital in Gainesville, Florida. As the inaugural resident in the UF Health Personalized Medicine Program, Dr. Owusu Obeng specialized in Pharmacogenomics and Drug Information. Dr. Obeng has published over 30 peer-reviewed manuscripts and book chapters on pharmacogenomics and precision medicine. She is a guideline writing member of the Clinical Pharmacogenetics Implementation Consortium (CPIC); member of the Pharmacogenomics Working Group in the NIH/NHGRI – funded IGNITE (Implementing Genomics in Practice) Network; 2017 ISMMS Leadership Emerging in Academic Departments (LEAD) Scholar; and a member and 2017 MERIT Scholar of the American College of Clinical Pharmacy (ACCP). Her research interests mainly lie in bridging the gap between discovery of genetic determinants of therapeutic response and clinical implementation by developing best practice processes to effectively adopt genomic medicine into everyday clinical practice.
Genetics101 for Cardiologists
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Amy E. Roberts, MD, FACMG
Department of Cardiology & Division of Genetics, Department of Pediatrics
Boston Children’s Hospital
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Dr. Roberts obtained her M.D. degree from Dartmouth Medical School in Hanover, NH. Following Pediatrics residency at the University of Massachusetts Medical Center, she completed a second residency in medical genetics at Harvard Medical School. In 2007 she joined the Department of Cardiology at Boston Children’s Hospital to direct clinical cardiovascular genetic research and to work in the cardiovascular genetics clinic caring for children with a variety of syndromic and isolated genetically acquired congenital heart diseases and cardiomyopathies.
Dr. Roberts’s research work has focused on RASoapthies: gene discovery and genotype phenotype correlations, genetic etiologies of childhood onset cardiomyopathies, and genetic etiology and phenotypic spectrum of isolated and syndromic congenital heart disease.
Genetics101 Workup for the Pediatrician
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Chester W. Brown, MD, PhD
Professor and Genetics Division Chief
Department of Pediatrics
LeBonheur Children’s Hospital
The University of Tennessee Health Science Center
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Dr. Brown is the St. Jude Chair of Excellence in Genetics, and Professor and Division Chief of Genetics at the University of Tennessee Health Science Center, Le Bonheur Children’s Hospital and St. Jude Children’s Research Hospital where he was recruited to help develop precision medicine initiatives in the Memphis community. His clinical interests include a variety of rare genetic syndromes in children and adults with a research emphasis on rare genetic disorders that have severe, early onset obesity as a feature. He completed his undergraduate degree at Howard University followed by MD/PhD training at the University of Cincinnati College of Medicine. His postdoctoral and subsequent faculty roles were in Pediatrics and Medical Genetics at Baylor College of Medicine. He has more than 25 years’ clinical experience with pediatric and adult Medical Genetics patients, representing a broad spectrum of conditions. He is a member of the Society for Pediatric Research, served for 6 years as a member of an NIH study section and on 2 committees for the National Academies of Sciences, Engineering and Medicine. He also directs a basic science research laboratory and the Biorepository and Integrative Genomics Initiative at UTHSC/Le Bonheur. He has continued clinical practice throughout his career and has never lost sight of the fundamental importance of careful observation and listening carefully to patients.
Appreciation is expressed to the 2019 summer pre-pandemic planning group:
Shweta Dhar, MD, MS, FACMG, FACP Course Director
Donna Messersmith, PhD Education and Community Involvement Branch, Division of Genomics and Society, National Human Genome Research Institute, National Institutes of Health
Kara Pappas, MD, FACMG Children’s Hospital of Michigan
Aditi Parikh, MD, FACMG University Hospitals Cleveland Medical Center
Jane Radford, MHA, CHCP ACMG Education Program
Amy Roberts, MD, FACMG Boston Children’s Hospital
Anne Slavotinek, MBBS, PhD, FACMG University of California, San Francisco, UCSF Benioff Children's Hospital