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