Medical Genetics seminars
March 2025
Tue, Mar 11 · 11:00 UTC · Online
July 2024
Wed, Jul 17 · 03:00 UTC · Online
SYNGAP1 Natural History Study/ Multidisciplinary Clinic at Children’s Hospital Colorado
Megan Abbott, MD· Children's Hospital Colorado
November 2023
Wed, Nov 1 · 06:00 UTC · Online
X-linked mosaicism and behavioral heterogeneity in Rett syndrome
Keerthi Krishnan· University of Tennessee, Knoxville
June 2023
Recorded
Epilepsy genetics 2023: From research to advanced clinical genetic test interpretation
Dennis Lal· Cleveland ClinicVideo · 57 min
May 2023
Wed, May 3 · 05:00 UTC · Online
Precision Genomics in Neurodevelopmental Disorders
Tychele Turner· Washington University
February 2023
Recorded
Brain mosaicism in epileptogenic cortical malformations
Stéphanie Baulac· ICM ParisVideo · 1 h 13 min
December 2022
Wed, Dec 7 · 05:00 UTC · Online
The impact of emerging technologies and methods on the interpretation of genetic variation in autism and fetal genomics
Michael Talkowski· Massachusetts General Hospital, Broad Institute of MIT and Harvard, Harvard Medical School
May 2022
Recorded
Mitochondrial leukodystrophies
Anna Ardissone· Institute of Neurology Carlo Besta, Milan, ItalyVideo page
February 2022
Recorded
Learning by example: HD-JUNIOR a national registry for patients with juvenile onset Huntington's Disease
Hannah Bakels· Leiden University Medical Center, the NetherlandsVideo page
January 2022
Recorded
ASO RNA splice modulating therapies for genetic brain disorders
Willeke van Roon-Mom· University of Leiden, the NetherlandsVideo page
Thu, Jan 20 · 10:00 UTC · Online
Epilepsy Genetics – From Family Studies to Polygenic Risk Scores
Sam Berkovic· University of Melbourne
October 2021
Wed, Oct 13 · 05:00 UTC · Online
Recorded
X-linked adrenoleukodystrophies - Update
Caroline Sevin· Reference Center for Leukodystrophies, Hospital Bicêtre and Institute for Brain and Spine, Paris, FranceVideo page
August 2021
Thu, Aug 19 · 01:00 UTC · Online
Interpretation of SYNGAP1 Variants
Eduardo Perez Palma, PhD· Universidad del Desarrollo, Santiago (Chile)
July 2021
Recorded
Gene therapy for Optic Neuropathies
José-Alain Sahel· University of PittsburghVideo · 42 min
June 2021
Recorded
Genetics and Therapy of Inherited Retinal Diseases
Dror Sharon· Hebrew UniversityVideo · 47 min
May 2021
Recorded
Benign hereditary choreas
Kathryn Peall· Cardiff University, UKVideo page
April 2021
Thu, Apr 1 · 01:00 UTC · Online
Modulating gene regulation to treat gene dosage-associated diseases
Nadav Ahituv, PhD· University of California
March 2021
Tue, Mar 9 · 17:00 UTC · Online
Wed, Mar 3 · 05:00 UTC · Online
Genetic Clues to Autism Heterogeneity
Elise Robinson· Broad Institute