2019 CFERV Conference on GRIN Variants
Overview
The Center for Functional Evaluation of Rare Variants (CFERV) held a community and scientific conference at Emory University at Emory University September 13-14, 2019.
Conference open to: all parents and children affected by variants in GRIN genes (including GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D, GRIN3A, and GRIN3B), clinicians and counselors that work with GRIN patients and family members, and members of the scientific community that conduct research on or have interest in GRIN genes.
Speakers
Session | Speaker |
Collaborative Approach Toward Understanding Mechanism and Treatment for GRIN Variants | Dr. Stephen Traynelis, PhD Depart of Pharmacology, Emory Univ School of Medicine, Director Center for Functional Evaluation of Rare Variants |
Genetic Basis of GRIN Variation | Dr. Ingo Helbig, MD University of Pennsylvania, Philadelphia, PA |
Genetic & Pharmacological Strategies to Improve Postnatal Recovery from GRIN1 Hypofunction | Dr. Amy Ramsey, PhD Pharmacology and Toxicology, University of Toronto |
Clinical & Genetic Spectrum of GRIN2A & GRIN2B Variants | Dr. Johannes Lemke, MD Institute for Human Genetics, University of Leipzig |
Clinical Phenotype & Mechanism of GRIN2D-Related Developmental & Epileptic Encephalopathy | Dr. Yuwu Jiang, MD, PhD Chair in Depart of Pediatrics; Director of Epilepsy Center, Peking University First Hospital, Beijing |
Regulation of NMDA Receptor Trafficking: Insights from Rare Variants |
Dr. Katherine Roche, PhD National Institutes of Health, NICHD |
Neurosteroid Rescue of Deficits in GRIN1, GRIN2A, and GRIN2B Loss-of-function Variants |
Dr. Hongjie Yuan, MD, PhD Depart of Pharmacology, Emory Univ School of Medicine |
Mouse Models of GRIN Gain-of-Function or Dominant Genetic Variants | Dr. Wayne Frankel, PhD Institute for Genomic Medicine, Columbia University |
Preliminary Analysis of GRIN Clinical Data from the CURE Study |
Dr. Timothy Benke, MD, PhD Ponzio Family Chair in Pediatric Neurology Research; Director of Research, Neuroscience Institute |
Precision Medicine for Genetic Epilepsies | Dr. Ann Poduri, MD, MPH Boston's Childrens Hospital; Department of Neurology, Harvard University |
Challenges and Opportunities Moving Forward | Panel Discussion |
Poster Presentations: Scientists, Clinicians, Postdoctoral Fellows, Residents, and Students interested in presenting a poster can choose this option during registration.
Parents Day Saturday
Full day of presentations from parents, GRIN related non-profit groups, clinicians, and care-givers Saturday, September 14th.