Coalition to Cure CHD2 Announces Two Recipients of Its 2022 Early-Stage Investigator Research Grant

Two $30,000 seed research grants were awarded to investigators studying CHD2-related neurodevelopmental disorders.

Boise, ID, August 15, 2022 --( Coalition to Cure CHD2 (CCC), a nonprofit organization dedicated to improving the lives of those affected by CHD2-related disorders by funding research necessary for uncovering a cure, announced two recipients of its 2022 early-stage investigator grant. Each grant, both in the amount of $30,000, will help to advance research in CHD2-related neurodevelopmental disorders. Assistant Professor Helen Willsey, PhD, of the University of Southern California San Francisco, and Assistant Professor Moran Rubinstein, PhD, of Tel Aviv University in Israel, are the recipients of the two grant awards.

The awardees were selected through a competitive application process in which written applications were reviewed by the Coalition’s Scientific Advisory Board comprised of scientists and clinicians who have a wide array of backgrounds and expertise in areas relevant to CHD2 research.

The goal of Dr. Helen Willsey’s project is to characterize the role of CHD2 in embryonic forebrain development and to identify small molecules that can compensate for CHD2 loss. She aims to model CHD2 mutations in live animals and human neurons in a dish and then conduct drug screenings in both models to find drugs that reverse the effects of CHD2 loss. Dr. Willsey says that, if her work proves successful, it should result in “a molecular understanding of why CHD2 causes microcephaly,” as well as identify both “a molecular process downstream of CHD2 that could be targeted with drugs” and specific “drugs that could compensate for at least some of CHD2’s functions in the brain,” all of which are factors critical to helping advance CHD2 research.

Dr. Moran Rubinstein’s project aims to characterize the epileptic and behavioral phenotypes of CHD2 mutant mice, as well as study how a specific ion channel with dysregulated expression previously identified by Dr. Rubinstein contributes to neuronal deficits in CHD2. Dr. Rubinstein also aims to test the potential therapeutic benefit of FDA-approved drugs that target this ion channel in CHD2 mice. She and her team have generated a novel CHD2 mutant mouse model that recapitulates certain aspects of the human manifestations of CHD2 haploinsufficiency. With the CCC grant, Dr. Rubinstein says that she and her team “are excited to continue with their work in characterizing their novel mouse model for CHD2, which they will use to strive to define neuronal and behavioral biomarkers and examine various therapeutic approaches for treating CHD2-related disorders.”

Christine Salmi, President of Coalition to Cure CHD2, notes that “CCC received eight top-quality grant applications from around the world; and although it would have liked to fund them all, being able to fund at least two of them makes all the hard work that CCC’s Board of Directors and Scientific Advisory Board are doing worthwhile.” She adds: “This is just the beginning! Although these two grants are CCC’s first-ever research grants, we hope to be able to provide more, and larger, research grants for many more years to come – for as long as it takes to find a cure for our CHD2 families.”

Coalition to Cure CHD2 has worked aggressively to raise funds for research and to foster collaboration among scientists globally. Providing seed funding for quality research projects creates the potential to propel that research toward future investment by industry and government.

About CHD2:
CHD2-related neurodevelopmental disorders are rare genetic disorders caused by variants (normally de novo) on the CHD2 gene. These disorders lead to several neurological issues including, but not limited to, epilepsy, intellectual and developmental disabilities, Autism, ADHD, sleep disruption, motor delays, and hypotonia (low muscle tone).

About Coalition to Cure CHD2 (CCC):
CCC, incorporated in the United States in 2020, is a 501(c)(3) public charity with a mission to improve the lives of those affected by CHD2-related disorders by funding research necessary for uncovering a cure.
Coalition to Cure CHD2
Christine Salmi