The CYFIP2 Network is a group of parents, friends, researchers and supporters all working to find a cure for CYFIP2 Developmental and Epileptic Encephalopathy (also called CYFIP2 Early Infantile Epileptic Encephalopathy).

CYFIP2 DEE is an ultra-rare, neurodevelopmental condition with no approved treatments and no known cure. Children with CYFIP2 DEE are born with rare genetic variations in the CYFIP2 gene and symptoms usually start within the first few months of life. As parents are still welcoming their newborn child into the world, these children are forced to fight severe and frequent drug resistant seizures and infantile spasms. Children with CYFIP2 DEE work incredibly hard to achieve developmental milestones, such as sitting independently, standing, crawling and walking, but mobility is often limited. Most are dependent on a PEG feeding tube. Hypotonia, intellectual disabilities, vision impairments, delayed or absent speech and movement disorders are other symptoms. Severe neutropenia is often reported.

There are roughly 50 known cases of CYFIP2 DEE worldwide. With such a small number of affected individuals, this leaves no financial incentive for pharmaceutical companies to develop/research a treatment.

As parents, we would do anything for our children. We have to at least try to advance the research, find a medicine and give them a child's life. We spend every moment of every day fighting for this, but we just can't do it alone. Your support and every donation fuels hope and we are deeply grateful.

We can help advance two potential treatment approaches: 1. Drug Repurposing and 2. Antisense Oligonucleotides (ASOs).

1. Drug Repurposing: In recent years, an amazing group of researchers identified a few medicines that could be repurposed to treat this condition but the drugs need to be tested in an animal model. We are working with CYFIP2 researchers to conduct drug screening/testing in zebrafish and mouse models.

2. Antisense Oligonucleotides (ASOs): The CYFIP2 Network began working with researchers in late 2024 to design and test ASO treatments for the CYFIP2 Arg87Cys variant (the most common variant which results in severe conditions). ASOs are a type of precision medicine designed to "silence" a harmful genetic variant. This can be tricky because the ASO needs to target only the one half (allele) of the gene with the variant. These ASOs are being tested in cell lines from patients. Once completed, they will need to be tested in a mouse model to ensure its safety and efficacy.

What we have done so far: The ASO study has begun and a mouse model is currently being developed through a grant that was approved in January of 2025.

Where we need help: We are still working to fund the drug repurposing study in zebrafish. We will also need to fund the testing of the ASO in the mouse model, once design and cell based studies are completed.

We have raised $54,000 (as of February 2025) and working towards a goal of $350,000 to fund the advancement of these studies and other research opportunities that may become available for CYFIP2 DEE. We are using this page to show fundraising progress towards this goal and hope that you will join us in finding a cure for CYFIP2 DEE.

The CYFIP2 Network is a registered 501c3 nonprofit organization located in the United States. You can find more information at www.cyfip2network.org.

Video Credit: M.A.L. Studios, LLC