6th Human Genetics in New York City (421 East 26th Street, Charles S. Hirsch Center for Forensic Sciences) Conference Leaders/Moderators: Barbara Sampson, MD, PhD, The Office of Chief Medical Examiner of the City of New YorkYingying Tang, MD, PhD, The Office of Chief Medical Examiner of the City of New YorkJean-Laurent Casanova, MD, PhD, The Rockefeller University and Howard Hughes Medical InstituteBruce D. Gelb, MD, Icahn School of Medicine at Mount SinaiDavid Goldstein, PhD, Columbia University October 3, 2018 8:30 am to 9:00 am Registration and Continental Breakfast Morning Presentations 9:00 am to 9:10 am Opening Remarks Jean-Laurent Casanova, MD, PhDInvestigator, HHMI, Professor, St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University Barbara Sampson, MD, PhDChief Medical Examiner, The Office of Chief Medical Examiner of the City of New York (OCME) 9:10 am to 9:25 am Short Presentation“Pushing the Limits of DNA Identifications: A City Challenged”Mark DesireAssistant Director, Forensic Biology Laboratory, OCME 9:25 am to 10:15 am Keynote AddressAravinda Chakravarti, PhDDirector, Center for Human Genetics and Genomics, NYU Langone Health 10:15 am to 10:45 am Break and Posters 10:45 am to 12:15 pmModerated by Yingying Tang, MD, PhD, Molecular Genetics Lab in OCME Session 1: Human Genetics in Public Health: From Prenatal to Postmortem“Chromosomal Mosaicism in Humans: Clinical Implications for Non-Invasive Prenatal Testing”Brynn Levy, PhDProfessor of Pathology & Cell Biology at CUMC; Director, Clinical Cytogenetics Laboratory; Co-Director, Division of Personalized Genomic Medicine College of Physicians and Surgeons, Columbia University Medical Center & the New York Presbyterian Hospital“Newborn Screening for SCID: Successes and Surprises”Charlotte Cunningham-Rundles, MD, PhDDepartments of Medicine and Pediatrics, The David S Gottesman ProfessorThe Immunology Institute, Mount Sinai School of Medicine“Carrier Screening”Lisa Edelmann, PhDAssociate Professor in the Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai“Postmortem Testing and Family Counseling”Nori Williams, MS, Certified Genetic CounselorMolecular Genetics Laboratory, OCME 12:15 pm to 1:45 pm Lunch, tours and posters Afternoon Presentations 1:45 pm to 3:05 pmModerated by David Goldstein, PhD, CUMC Session 2: Tools to Understand Human Genome “Optimizing the Interpretation of Clinical Exomes”Vimla Aggarwal MBBS, FACMGAssistant Professor of Pathology and Cell Biology (in the Institute for Genomic Medicine) Columbia University Medical Center“Data Integration: From Human Genome to Disease Risk”Zhengdong Zhang, PhDAssociate Professor of Genetics, Albert Einstein College of Medicine“Detect and Assign Pathogenicity to Genetic Variations”Yuval Itan, PhDAssistant Professor, Genetics and Genomic Sciences, the Icahn School of Medicine at Mount Sinai 3:05 pm to 3:45 pm Break and Posters 3:45 pm to 5:15 pmModerated by Bruce D. Gelb, MD,MSSM Session 3: Human Genetics in Common Diseases“The Landscape of Horizontal Pleiotropy Amongst Human Genetic Variation”Ron Do, PhDAssistant Professor in Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai “A Monogenic but Common Cause of Human Tuberculosis”Stephanie Boisson-Dupuis, PhDSenior Research Associate, Casanova Laboratory, St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University “Genetics of Epilepsy"Tristan T. Sands, MD, PhD Assistant Professor of Neurology Division of Child Neurology & Institute for Genomic Medicine, Columbia University Irving Medical Center New York Presbyterian Hospital "ALS Genomics”Sahar Gelfman, PhD Associate Research Scientist, the Institute for Genomic Medicine, Columbia University Medical Center 5:15 pm to 5:25 pm Closing RemarksJean-Laurent Casanova, MD, PhDInvestigator, HHMI, Professor, St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller UniversityBarbara Sampson, MD, PhDChief Medical Examiner, The Office of Chief Medical Examiner of the City of New York (OCME)
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