GRIN2B Foundation is pleased to announce an award of $40,000 to Emory University to promote scientific understanding of the ultra-rare genetic condition known as GRIN2B-Related Neurodevelopmental Disorder.
GRIN2B Foundation’s 2021 research grant recipient is Dr. Hongjie Yuan, Assistant Professor of Pharmacology and Chemical Biology at the Emory University School of Medicine in Atlanta, GA, and Deputy Director of the Center for Functional Evaluation of Rare Variants (CFERV) for his research project entitled:
“Functional Evaluation and Therapeutic Strategies for an Animal Model Harboring a Disease-associated Gain of Function GRIN2B Variant”
Building on the grant Dr. Yuan received a year ago to study the impact of a Loss of Function GRIN2B variant on NMDA receptor function, Dr. Yuan and his team will now replicate the study, only this time with a Gain of Function GRIN2B variant. Using multiple techniques, they will show how a Gain of Function GRIN2B-p.Ser810Arg variant identified in a pediatric patient with intellectual disability and seizures influences synaptic activity/connectivity, seizure threshold and behaviors in a knock-in mouse line harboring the variant. They will also assess if the addition of substances (e.g. Radiprodil, Memantine, Ketamine) to the mouse models will lessen the impact of the GRIN2B variant.
Read more about Dr. Yuan, his current project and our previously funded projects here.
According to Dr. Stephen Traynelis, Professor of Pharmacology at Emory University and member of GRIN2B Foundation’s Medical Advisory Board:
“The GRIN2B Foundation has a history of funding cutting edge research on new treatment options for patients with GRIN variants. Dr. Hongjie Yuan is a leader in conceptualizing new therapeutic strategies for patients with GRIN variants. The ongoing work is exciting, has stimulated interest in the private sector for treatment strategies, and is poised to provide new insight into how the GRIN2B gene can influence development and human behavior. It’s hard to overstate the impact of this particular study for the community of patients and families associated with GRIN variants, enabled both by generous donations and the support of GRIN2B foundation.”
We would not be able to award these important research grants without our community of patients, families, scientists, clinicians and people like you. Thank you for believing in and powering our mission. Make a donation today and impact vital research as we drive closer to treatments every single day.
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Thank you,
Liz Marfia-Ash, GRIN2B Foundation Board President