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Medical Genetics

The Medical Genetics Conference is moderated by James R. Lupski, M.D., Ph.D., Cullen Professor of Molecular and Human Genetics and Professor of Pediatrics at Baylor College of Medicine.

This conference may include discussion of commercial products and services.

The opinions expressed herein are those of the authors and do not necessarily represent the views of the sponsor or its publisher. Please review complete prescribing information of specific drugs or combination of drugs, including indications, contraindications, warnings and adverse effects before administering pharmacologic therapy to patients.

Genetic Basis of COVID-19 Susceptibility and Severity

The emergence of the second Sarbecovirus in the 21st century has led to a pandemic that has disrupted human society in an unprecedented mode in recent history. More than 80 million people have been infected worldwide by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) that emerged in Wuhan, Hubei Province, China in December 2019, while the global death toll of the resulting coronavirus disease 2019 (COVID-19) amounts to over 1.7 million, as of December 30, 2020. A key
Authors: Cleo Anastassopoulou, Ph.D., and Athanasios Tsakris, M.D., Ph.D., F.R.C.Path.
Estimated Time: 1 Hour
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James R. Lupski, M.D., Ph.D.

Medical Genetics

Dr. James R. Lupski, Cyberounds® Medical Genetics moderator, is Cullen Professor of Molecular and Human Genetics and Professor of Pediatrics at Baylor College of Medicine. Dr. Lupski received his B.A., M.S., Ph.D., and M.D. from New York University and is board certified in pediatrics and medical genetics. Jim holds several United States patents in genetics, serves on the editorial board of The American Journal of Human Genetics and is the director of Baylor's NIH Medical Scientist Training Program. From 1990-1994 Jim was a PEW Scholar in Human Genetics. His research interests include: inherited peripheral neuropathies, DNA fingerprinting of pathogenic microorganisms, Smith-Magenis syndrome associated with del 17p11.2, and recessively inherited eye disorders.

Within the past 12 months, Dr. Lupski has been a consultant to 23andMe and Ion Torrent Systems, Inc, and been on the Speakers Bureau for Athena Diagnostics.

Last Update: 2/21/2021

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More Medical Genetics Courses

Mitochondria in Health and Disease

Mitochondria are semiautonomous organelles present in almost all eukaryotic cells in quantities ranging from a single copy to several thousand per cell. Important mitochondrial functions include ATP production by oxidative phosphorylation, ?2-oxidation of fatty acids and metabolism of amino acids and lipids. Furthermore, mitochondria have a prominent role in the initiation of apoptosis (i.e., an organism’s normal and controlled death of cells). Due to their involvement in ATP production, dysfunction of mitochondria is involved in a range of pathologies known
Authors: Claus Desler, Ph.D., and Lene Juel Rasmussen, Ph.D.
Estimated Time: 1 Hour
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Lessons In SLE Genetics

Given that there is a strong genetic component underlying SLE, much research effort has been directed to illuminating the specific genetic details. It became evident from murine and human studies that SLE is a polygenic disease with multi-factorial origin. More than two dozen genes have been reproducibly and robustly associated with SLE susceptibility, and these can be broadly divided into two categories: (i) common genetic polymorphisms, mostly uncovered through genome-wide association studies (GWAS), and
Authors: Chandra Mohan, M.D., Ph.D.
Estimated Time: 1 Hour
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The Genetics of Breast and Associated Cancers

While 5-10% of women with breast cancer have mutations in one of a number of tumor suppressor genes inherited in an autosomal dominant fashion, most breast cancers have somatic genetic changes which act as both prognostic and predictive factors. Oncotype DX® and MammaPrint are two gene-expression assays which categorize women with early stage breast cancer to either low or high risk for distant recurrence, allowing physicians to tailor their use of adjuvant
Authors: Jennifer Barrick, M.S., C.G.C., Nancie Petrucelli, M.S., C.G.C., and Michael S. Simon, M.D., M.P.H.
Estimated Time: 1 Hour
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Genetic Variation In Taste Receptors and Eating Behavior

Taste perception influences food preference and intake. Sensory inputs from taste receptors provide information regarding the identity and flavor of food. Taste sensations can induce satiety and reinforce eating. Taste bud density, differences in salivary constituents, genetic variation in taste receptors, and exocrine and endocrine factors may all influence food intake and, therefore, influence risk for nutrition-related conditions including obesity, diabetes, cardiovascular disease, hypertension, hyperlipidemia and cancer. There are five widely accepted taste
Authors: Hillary L. Shaw, M.D., Cedrick D. Dotson, Ph.D., Steven D. Munger, Ph.D., and Nanette Steinle, M.D.
Estimated Time: 1 Hour
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Molecular Mechanisms Underlying Mammalian Olfaction

Olfaction is determined by the odorant receptors (ORs) in the olfactory sensory neurons (OSNs) of the main olfactory epithelium. Mammalian ORs are G protein-coupled receptors (GPCRs) that are expressed on the cell-surface membrane at the tip of the dendrites in the OSNs. ORs, first cloned in 1991 by Buck and Axel, comprise the largest gene family among all GPCRs. Approximately 400 genes are annotated as ORs in humans, whereas more than 1000 genes encode distinct
Authors: Hanyi Zhuang, Ph.D., and Hiroaki Matsunami, Ph.D.
Estimated Time: 1 Hour
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