Overarching Goal

CFERV tests GRIN, GRIA, GRIK, and GRID gene variants upon request.

We provide results of functional analyses to clinicians and research scientists.

CFERV is a national clearing house for information on rare variants in the GRIN, GRIA, GRIK, and GRID genes.

2019 Conference on GRIN Variants

2019 CFERV Conference on GRIN Variants

Atlanta, GA

Friday-Saturday, September 13-14

Register Here


The Center for Functional Evaluation of Rare Variants (CFERV) is pleased to announce sponsorship of a community and scientific conference to be held at Emory University.

We cordially invite 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.


The 2019 CFERV Conference on GRIN Variants will take place September 13-14 in Atlanta, Georgia at the Emory University Conference Center Hotel on the main Emory University campus. 


The scientific program is on Friday, September 13th starting with breakfast at 8:00 and kicks off with a welcome from the Dean of Medical School or Chairman of Genetics at 8:35 AM

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

There will be a full day of presentations from parents, GRIN related non-profit groups, clinicians, and care-givers on Saturday, September 14th. Please be sure to indicate your topics of interest.

Rare GRIN2B Variants in Patients with Neurological Disorders





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