Get to Know Coalition to Cure CHD2
Updated: Feb 11
About CHD2-related neurodevelopmental disorders
We currently have about 205 diagnosed CHD2 patients in the world, but we know there are likely thousands more undiagnosed patients out there. CHD2-related neurodevelopmental disorders were first discovered in 2013 and are rare, genetic, neurological disorders caused by a mutation in the CHD2 gene. The CHD2 gene is located on chromosome 15 at 15q26.1 and provides instructions for making a protein called chromodomain-DNA-helicase-binding protein 2. This protein is found in cells throughout the body and regulates gene activity (expression) through a process known as chromatin remodeling. Chromatin is the complex of DNA and proteins that packages DNA into chromosomes. The structure of chromatin can be changed (remodeled) to alter how tightly DNA is packaged. When DNA is tightly packed, gene expression is less likely than when DNA is loosely packed. Chromodomain-DNA-helicase-binding protein 2 appears to play an important role in the brain, although its function is not well understood. Research suggests that it may help control development or functioning of nerve cells (neurons). The majority of known CHD2 mutations that cause CHD2-related neurodevelopmental disorders lead to non-functional protein (truncation of the protein), suggesting that when there isn’t enough chromodomain-DNA-helicase-binding protein 2 in the body, this disorder occurs.
CHD2-related neurodevelopmental disorders' Clinical Features
CHD2-related neurodevelopmental disorders can be characterized by early-onset developmental and epileptic encephalopathy (DEE). DEE are a group of seizure disorders that do not respond to anti-seizure medications and are often associated with learning and developmental impairment or regression. Seizure onset is typically between ages six months and four years. Seizure types typically include drop attacks, myoclonus, and a rapid onset of multiple seizure types associated with generalized spike-wave on EEG, atonic-myoclonic-absence seizures, and clinical photosensitivity. Intellectual disability and/or autism spectrum disorders are common. However, not all individuals with CHD2 mutations have the same clinical features and the full spectrum of features is yet to be defined (Carvill et al, 2005)
Get to Know Coalition to Cure CHD2
Coalition to Cure CHD2 was “born” in late 2020 out of two moms’ frustration for a lack of direction to help their daughters, but also with hope. Our organization focuses exclusively on funding research in order to find a cure.
I am especially proud of ...
Within three months, our group assembled a board of directors, a Scientific Advisory Board, created a website and an Awareness Day (which is February 2nd), to name a few things. All the members of our Board of Directors have full time jobs as well and are working parents.
Excited to REN because... We are excited to learn from other organizations, to see what has worked and what hasn’t. Everyone we speak to offers a valuable perspective. We hope to be able to help other organizations once we get off our feet planted a little more. My journey and motivation... When I think back to everything in my life that I have done prior to becoming a Rare Disease mom, I feel like it has prepared me to do this job. I wouldn’t wish this on anyone, but if anyone can do it, I sure can! My vision is to cure CHD2 and not just band-aid it with medications, because band-aids eventually fall off. By Lauren Malko, Co-President and Co-Founder
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