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Not all superheroes wear capes.

Some have IRF2BPL-Related Disorder.

About Tough Genes

We are a patient organization driven to support research for IRF2BPL-Related Disorder (NEDAMSS) and those affected by it. 
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Our Story

Founded by parents of a child with IRF2BPL-Related Disorder, Tough Genes is a 501c3 nonprofit organization dedicated to advancing scientific knowledge and medical understanding of the IRF2BPL gene. Our mission is based upon raising awareness and funds for IRF2BPL-Related Disorder research. We strive to transform lives by driving breakthroughs in science, increasing awareness, and securing the resources necessary to find treatment and improve the quality of life for those impacted by this disorder.

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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.

Our Focus

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Awareness

At Tough Genes, we strive to increase medical understanding of IRF2BPL and its impact on individuals and families. By raising awareness, we hope to foster empathy, support, and understanding for those affected by this rare genetic disorder.

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Research

Tough Genes is dedicated to finding a safe and effective treatment for IRF2BPL-Related Disorder. Our research funding efforts aim to support scientific studies and medical breakthroughs that will lead to a viable treatment. 

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How you can help

We believe in building a community of support and advocacy for IRF2BPL. Through events, outreach, and collaboration, we aim to create a network of individuals and organizations dedicated to making a difference in the lives of those with IRF2BPL.

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Partnerships

We are proud partners or members of these collaborative organizations

IRF2BPL Global Case Map
The Science Exists. We can do this.
If you would like to help us find a safe and effective treatment for IRF2BPL-Related Disorder, consider donating to Tough Genes today.
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