CureGRIN Foundation is pleased to announce an investment of $75,000 to cover the cost of functional analysis for 50 people with GRIN Disorder.  The recipient of CureGRIN’s grant the Center for Functional Evaluation of Rare Variants (CFERV), led by Stephen Traynelis, PhD and Director. CFERV’s mission is to advance the scientific understanding of rare genetic variants that cause ultra-rare genetic conditions such as GRIN Disorder.

About the Research

CFERV evaluates whether glutamate receptor function is altered by variants in GRIN genes.  These genes encode for NMDA receptors, which play essential roles in brain function. CFERV maintains a publicly accessible database for clinicians, scientists, and parents to obtain information about functional effects of GRIN and other rare genetic variants.

Why is Functional Analysis Important to Know?

Understanding the mechanics of variants in GRIN genes is crucial in finding therapies and cures for GRIN Disorder. Functional analysis determines whether a variant is Loss of Function (decrease in the amount of current flowing into a cell) or Gain of Function (increase in the amount of current flowing into a cell).In addition, characterization of other aspects of function of GRIN variants could allow further stratification of patients based on functional properties and clinical features. This knowledge will lay the foundation for future clinical trials of disease modifying therapies such as personalize medicines. Traynelis adds, “the support we have received from the CureGRIN Foundation will enable us to continue to serve patients, clinicians, and basic scientists by supporting the functional analysis of GRIN variants. This work represents a critical step forward in understanding how to best help GRIN patients and will be important as we eventually move forward towards clinical trials.  We are deeply appreciative of the efforts of CureGRIN, the generosity of the donors who make this work possible, and we draw inspiration from the resilience of the GRIN patients and their parents and families.”

CureGRIN is excited to support CFERV’s work and providing this funding will allow the CFERV team to process much needed new functional analysis tests and eliminate a backlog of unprocessed requests. “This investment is an important step forward in supporting families and advancing GRIN Research. We couldn’t have done this without the support of GRIN families around the world who have donated and helped us to fundraise,” says Keith McArthur, CureGRIN CEO and Head of Science.

How to Participate

If you would like to submit your child’s genetic test results for functional analysis, please visit http://functionalvariants.emory.edu/request-analysis/index.html for instructions.