Opportunities for Families

CureGRIN is committed to ensuring collaboration between clinicians, researchers, biotech companies and patient advocates, sharing everything from theories and results, to animal models and technologies. 

By participating in a research project, you can play a role in helping physicians and other researchers develop and test better ways to diagnose and treat individuals disgnosed with a GRIN Disorder. 

 

If there is a research study below in which you and your family would like to participate, see the description for contact information, to receive more information or to enroll.

GRIN Variant Patient Registry 

The GRIN Variant Patient Registry (GVPR) was created to link functional analyses of GRIN variants obtained through the Center for Functional Evaluation of Rare Variants (CFERV) with standardized patient/family reported clinical information. The main goal of this registry to create a platform that will facilitate determining better treatments and cures for GRIN disorders. Initially, we are using the registry to create a database of clinical features, medication usage, and assessments (MRI and EEG results) associated with GRIN variants. Features include epilepsy, developmental delay, movement disorders, and vision impairment.

 

The next step is to link clinical information with functional information from laboratory experiments. By linking clinical and functional information, we hope to inform future clinical trials that incorporate treatments specific to GRIN functional changes. The current registry will inform the selection of data collection instruments to be used to shift the registry from its current retrospective data collection to a prospective natural history study that includes both parent and clinician reported information. Natural history data is crucial to determining the effectiveness of future interventions; we need to know if particular symptoms worsen or improve on their own over time to understand if interventions were actually helping or not.

 

Our goal is to enroll at least 50 subjects in each group to begin to make generalizations about functional links between symptoms and disorders.

In order to enroll, contact the study coordinator: Jenifer.Sargent@childrenscolorado.org.

Disease Modeling Using 3-D Organoids Derived from Human Induced Pluripotent Stem Cells (iPSC)

Induced pluripotent stem cells (iPSCs) have provided new opportunities to explore the cell biology and pathophysiology of human diseases. Researchers at Emory University School of Medicine are generating iPSC lines from kids carrying GRIN mutations, and would like to use these iPSC lines and 3-D brain organoids for studying disease mechanisms and screening novel therapeutic compounds.

 

In order to enroll, contact researcher:  zhexing.wen@emory.edu

Simons Searchlight is on a quest to accelerate the genetic science of autism and related disorders. We want more answers. We want more progress. We are a partnership of leading scientists, researchers, and families. Simons Searchlight believes the only way to make meaningful advances is to do it together. Families know the steps they have taken on their journey and how their lives have been affected. Scientists know how to transform that knowledge into the most cutting edge research.

 

Click here for Study Information

To enroll, click the following link: Join US!