Open Science for GRIN

For the Ramsey Lab, this project began in 2018, when we were invited to a parent-organized meeting for caregivers of GRIN1 patients. Our group uses mice to study the NMDA receptor (which is encoded by the GRIN genes) in the context of schizophrenia and autism. It was only in 2018 that we learned of a rare disease caused by de novo mutations in the GRIN1 gene. Then we learned that single base pair mutations have been discovered in all of the seven GRIN genes that encode NMDA receptors. We have since moved our research focus towards helping GRIN patients, and have joined the growing community of scientists and clinicians with this same goal.

What are the features of GRIN disorders? All patients have some level of intellectual disability, but other features of the syndrome are variable, depending on the individual patient and the nature of their specific variant. Many children have low muscle tone that leads to developmental delays in motor skills and difficulties feeding. Many children have seizures that vary in severity from brief and infrequent to life-threatening. Other common symptoms include reduced or absent speech, cortical visual impairment, hyperactive and repetitive movements, and sleep disturbances. In talking with caregivers, it seems clear that these symptoms are the ones where therapeutic interventions could greatly improve the quality of life.

It is an enormous task to care for and raise a child with such special needs. However, the GRIN parents have found each other through online support groups. They are providing helpful information about medicines and about the occupational therapy that enables GRIN patients to gain motor skills. They have also started foundations to help other parents and caregivers, or to provide financial support for research.

The support network that GRIN parents have developed should set the example for GRIN researchers. It is our hope that the cooperation of parents to share information and advance medical care will inspire scientists to build an open science community. If you would like to join the GRIN disorder open science platform to share your research, please email me at


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