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Our Story
Kelly inspired her parents, Josh and Erin, to create Tough Genes. After months of searching for the cause of Kelly's developmental delays, an answer finally came through genetic testing. Although they received a diagnosis, a truncation to the IRF2BPL gene, that only brought more questions. We are dedicated to driving research that will bring about a greater understanding of IRF2BPL and ultimately develop a treatment for those affected.
What is IRF2BPL-Related Disorder?
IRF2BPL-related disorder, also known as NEDAMSS (Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures), is a rare genetic condition caused by mutations in the IRF2BPL gene. This gene is responsible for producing a protein that plays a role in the development and function of the nervous system. Those with IRF2BPL-Related Disorder face the very real possibility of losing their abilities to walk, talk, eat and care for themselves.
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Our Focus
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