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About Tough Genes
Who We Are
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.
Our Mission
Tough Genes is dedicated to advancing scientific knowledge and medical understanding of the IRF2BPL gene.
Our Vision
To develop a safe and effective treatment for those with IRF2BPL-Related Disorder (NEDAMSS).
Why
"Tough Genes"?
A Name with Meaning
The children with IRF2BPL genetic mutations are TOUGH. They push hard to reach milestones and push even harder to try and slow down regressions. Their families are no whimps either. IRF2BPL is also a tough gene to figure out. Researchers are working hard to understand how the IRF2BPL gene works and how changes in the gene effect the human body.
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