CureGRIN is incredibly proud to announce $200,000 in new research funding to help us achieve our goal of finding treatments and cures for GRI Disorders by the end of this decade. This significant investment will support eight groundbreaking projects, bringing us closer to our goal.
These vital grants will fuel a diverse range of research, from exploring new medicines and gene therapies to developing an essential online portal for the GRI Census. Seven of these projects are directly funded by CureGRIN, with the eighth generously supported by GRIUK.
We extend our deepest gratitude to our incredible families. Your generous donations and relentless fundraising are the backbone of our efforts, accounting for the vast majority of our funding. This vital work simply wouldn’t be possible without your unwavering support.
Funded Research Projects: A Closer Look
Here’s a detailed overview of the eight exciting research projects receiving funding:
Gene augmentation as a single treatment for GRIN1 disorders – a proof-of-concept study in patient variant mouse models
Researchers: Professor Graham Collingridge and Professor Amy Ramsey (University of Toronto)
GRIN1 disorders happen because of changes in the GRIN1 genes, which are like instructions for making important parts of brain cells that help them talk to each other. This study is testing a promising approach called gene augmentation. It’s like adding more of the “good” GRIN1 gene to make up for the faulty one. The researchers will use special mice that have the same GRIN1 changes as people with the disorder. By studying these mice, they can see how this gene therapy affects brain function and behavior. The ultimate goal is to find a single treatment that gets to the root cause of GRIN1 disorders and significantly improves the lives of affected individuals.
Establishing and utilizing a laboratory for rapid characterization of newly-identified GRIA variants
Researcher: Ian Coombs (University College London)
This project is all about setting up a special lab to quickly understand new changes found in GRIA genes. These genes are crucial for how brain cells communicate. When these genes have changes, it can lead to developmental disorders. To figure out how to treat these disorders, it’s really important to know if a gene change makes the brain cell parts work too much or not enough. This lab will look at how these gene changes affect how these brain cell parts work. The information from this lab will be key to guiding doctors in choosing the best treatments for each patient, making care more personalized and effective.
Developing an Interactive Web Portal for Genotype-Phenotype Analysis of GRI Census data
Researcher: Dennis Lal (University of Texas)
This project aims to create the GRI-portal, an important online tool. This portal will bring together genetic information, patient symptoms, and details about how cells work from people with GRIN disorders. GRIN genes are vital for brain cell communication. The GRI-portal, which will include an online dashboard for GRI Census data, will help researchers and doctors understand how specific gene changes are connected to the different symptoms people experience. Having all this information in one place will greatly improve our understanding of these complex disorders, leading to better diagnosis and more personalized treatment plans.
Innovating prime editing as an enduring therapy for GRI disorders
Researcher: Amy J Ramsey (University of Toronto)
This research is focused on developing prime editing as a potential treatment for GRIN disorders. Prime editing is a very precise gene-editing technology that allows scientists to make exact changes to DNA to fix the faulty genes. The researchers will work on getting this editing tool into the right cells, using a mouse model with a specific GRIN1 gene change. The big goal is to create a long-lasting therapy that can correct the genetic mistakes in GRIN disorders, offering the hope of a one-time, permanent cure for patients. This research is part of the fast-paced advancements in gene-editing that are bringing new hope for these conditions.
Optimizing the Use of Cholesterol 24-Hydroxylase Inhibitors: A Disease-Modifying Treatment for GRIN2D-Related Developmental Epilepsy
Researchers: Moran Rubinstein and Karen B. Avraham (Tel Aviv University)
This research aims to improve how we use certain medications called cholesterol 24-hydroxylase (C24H) inhibitors to treat a type of epilepsy linked to GRIN2D genes. These genes are important for how brain cells communicate. C24H inhibitors have shown promise in controlling brain cell activity and reducing inflammation. The study will look at how well these inhibitors work to reduce brain cell damage and inflammation. The hope is to develop a treatment that can slow down or even stop the progression of the disorder, offering a valuable new option for families dealing with GRIN2D-related epilepsy.
Utilizing endogenous neurosteroids in the treatment of GRIN2B loss of function
Researcher: Tereza Smejkalová (Czech Academy of Sciences)
This project explores using natural brain chemicals called neurosteroids to treat GRIN2B disorders where the gene isn’t working properly. When GRIN2B genes aren’t working right, it disrupts how brain cells talk to each other. Neurosteroids are made in the brain and can help control how these brain cell “talk lines” work. This study will investigate how specific neurosteroids can help make up for the reduced function caused by GRIN2B gene changes. By finding new ways to restore proper brain signaling, this research has the potential to offer a new and potentially safer treatment approach, ultimately leading to better outcomes for patients with GRIN2B-related disorders.
Assessment of single channel conductance for GRIN variants that introduce a charge into the permeation pathway
Researcher: Dr. Stephen Traynelis (Emory University)
This research is focused on understanding how specific changes in GRIN genes affect how important parts of brain cells, called glutamate receptors, work. The study will look closely at gene changes that add an electrical charge to the “doorway” of these receptors, which is where signals pass through. Using very precise electrical measurements, researchers will see how these changes affect the flow of signals. Knowing exactly how these GRIN gene changes impact receptor function is crucial for future clinical trials. This research will help us better classify these gene changes, which will speed up the development of personalized and effective treatments for GRIN disorders.
Longitudinal natural history data and clinical outcome measures for GRIN Examining 25 GRIN Adults at the Erasmus MC Brain Lab Facility (Funded by GRIUK)
Researchers: Danielle Veenma, Suzanna Koudijs and Lianne Krab (Erasmus MC)
This project will study the senses and movements of adults with GRIN disorders to understand how these conditions change over time. GRIN disorders often involve challenges with learning, speaking, movement, epilepsy, sleep, and behavior. The researchers will use special tools at the Erasmus MC Child Brain Lab to do detailed checks on 25 adults with GRIN disorders. These checks will include looking at brain activity, eye movements, how they process senses, eye scans, hearing, motor skills, walking, and activity levels. The goal is to find good ways to measure progress and to create a timeline of how the disorder develops. This will help predict how GRIN disorders might affect younger patients and guide the creation of better clinical trials and personalized support.
