What is needed to develop a treatment?
PATIENT DATA
Patient data informs researchers of condition symptoms and how conditions change over time.
Families can join our CYFIP2 Data Collection Program (Patient Registry) by clicking here. The CYFIP2 DCP is available through a partnership with RARE-X, a research program of Global Genes. An instructional video on how to register (with a transcript that can be translated) can be accessed (here).
Families can also contribute to the CYFIP2 Natural History Study being conducted by the University of Zurich.
Biological SAMPLES
Biological samples, such as blood, skin, saliva, urine, etc, can be donated and developed into cell lines. These cell lines enable researchers to study CYFIP2 variations and test treatments.
Some types of cell lines can take up to a year to be developed. As new treatment approaches are discovered, it helps to already have established cell lines rather than waiting for donations to be processed.
Families who are interested in donating a biological sample, can contact us at support@cyfip2network.org. We can assist in getting families in touch with the NIGMS Human Genetic Cell Repository at Coriell Institute for Medical Research. This biobank is a free resource to families worldwide and can ship established cell lines to researchers worldwide.
How does it work? Consent forms and a collection kit for either a blood or skin sample will be mailed to your home. Families make an appointment with their doctor to have the sample collected. The sample and all required paperwork is then shipped back to Coriell using the included shipping label. The sample is then developed into a cell line and once completed, is listed in the catalog for interested researchers.
Animal Models
A new CYFIP2 Arg87Cys mouse model is currently being developed. The mouse was awarded to the CYFIP2 Network in January of 2025. Once generation is finished, the mouse model will be shipped to the United States. Stay tuned, more updates soon.
Research Funding
The majority of our funds come from donations from generous people who believe that CYFIP2 DEE should have a treatment. Our donation page can be found (HERE).
We encourage sharing the donation page on social media, in communities, with friends, families and supporters.
Through the donation page, you can also start your own fundraising campaign. This enables you to tell your own story about why you are fundraising for CYFIP2 research (and can be written in other languages). Currency is adjusted if fundraising or donating from outside of the United States.
Action items
Use the above list to register for the CYFIP2 DCP (Patient Registry), contribute to the natural history study and to donate biological samples for research.
Join the CYFIP2 Family Facebook Group.
Visit and share the CYFIP2 Awareness Shop. A portion of all sales are donated to the CYFIP2 Network to fund research. There is an option to design your own tee shirts and other products to start your own online fundraiser for the CYFIP2 Network. When the items are purchased, a portion of the sales is donated to fund CYFIP2 research. Start designing your own fundraiser (here).
Download resources from our Downloads Center (Coming Soon). These resources have been created through an internship with the Orphan Disease Center - Jumpstart Program, Genetics Counselor Student Exchange Program.
Consider fundraising or donating to support CYFIP2 research. For large donations, we recommend reaching out to us at support@cyfip2network.org for wire transfer information or for the foundation address to send a check.
The online donation page can be found (here).
Share Your Story
By sharing your story, you can inspire awareness and drive critical progress in research and support networks. Sharing your experiences expresses the unique challenges of living with this rare condition, helping others understand the need for medical advancements and compassionate care. Your voice can unite a community, foster connections with other families, and amplify efforts to secure funding and advocacy for better treatments. Personal stories also offer hope to newly diagnosed families, showing that they are not alone in their journey.