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With Jean-Laurent Casanova (Prof., Human Genetics Lab at Rockefeller University), Barbara Sampson (Chief Medical Examiner, City of New York), Mark Desire (Dir., Forensic Biology Lab at OCME), Aravinda Chakravarti (Dir. Center for Human Genetics & Genomics, NYU Langone Health), Brynn Levy (Prof. Cell Biology, CUMC).
Wed, Oct 03, 2018 @ 08:30 AM   FREE   Hirsch Center For Forensic Sciences, 421 E 26th St
 
   
 
 
              

      
 
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LOCATION
EVENT DETAILS
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 & 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 & 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 PresentationPushing the Limits of DNA Identifications: A City ChallengedMark DesireAssistant Director, Forensic Biology Laboratory, OCME




9:25 am to 10:15 am


Keynote AddressAravinda Chakravarti, PhDDirector, Center for Human Genetics & Genomics, NYU Langone Health




10:15 am to 10:45 am


Break & 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 PostmortemChromosomal Mosaicism in Humans: Clinical Implications for Non-Invasive Prenatal TestingBrynn Levy, PhDProfessor of Pathology & Cell Biology at CUMC; Director, Clinical Cytogenetics Laboratory; Co-Director, Division of Personalized Genomic Medicine College of Physicians & Surgeons, Columbia University Medical Center & the New York Presbyterian HospitalNewborn Screening for SCID: Successes & SurprisesCharlotte Cunningham-Rundles, MD, PhDDepartments of Medicine & Pediatrics, The David S Gottesman ProfessorThe Immunology Institute, Mount Sinai School of MedicineCarrier ScreeningLisa Edelmann, PhDAssociate Professor in the Department of Genetics & Genomic Sciences, Icahn School of Medicine at Mount SinaiPostmortem Testing & Family CounselingNori Williams, MS, Certified Genetic CounselorMolecular Genetics Laboratory, OCME




12:15 pm to 1:45 pm


Lunch, tours & 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 ExomesVimla Aggarwal MBBS, FACMGAssistant Professor of Pathology & Cell Biology (in the Institute for Genomic Medicine) Columbia University Medical CenterData Integration: From Human Genome to Disease RiskZhengdong Zhang, PhDAssociate Professor of Genetics, Albert Einstein College of MedicineDetect & Assign Pathogenicity to Genetic VariationsYuval Itan, PhDAssistant Professor, Genetics & Genomic Sciences, the Icahn School of Medicine at Mount Sinai




3:05 pm to 3:45 pm


Break & Posters




3:45 pm to 5:15 pmModerated by Bruce D. Gelb, MD,MSSM


Session 3: Human Genetics in Common DiseasesThe Landscape of Horizontal Pleiotropy Amongst Human Genetic VariationRon Do, PhDAssistant Professor in Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai
A Monogenic but Common Cause of Human TuberculosisStephanie 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 GenomicsSahar 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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