Cyfip2 Network

09/01/2025

Strides for CYFIP2 (our final virtual 5k fundraiser) kicks off in just a few hours! 💙 We can’t wait to see how many CYFIP2 families and supporters come together to walk, run, and show their support for CYFIP2 research.
👉 bit.ly/5kcyfip2

08/22/2025

08/05/2025

CYFIP2 Families:

Interested in contributing to the DEE 65 Research Roadmap? We need your help!

What is a “Research Roadmap?”
A research roadmap is a strategic planning document or framework that outlines the key steps, priorities, and milestones needed to achieve specific research goals over a defined period of time. It's essentially a high-level guide for how to approach complex research problems.

The DEE 65 Research Roadmap is currently being written by Scientific Advisor Matt Jarpe and will be published in both English and Portuguese. This document will include current research priorities, research questions and challenges, milestones and next steps, interviews from collaborators (researchers, institutions, families).
Please let us know if you are interested in this document being translated to another language.

How do families participate?
Send us an email at support@cyfip2network.org and let us know that you are interested in contributing. You will receive an email from Matt Jarpe with a series of interview questions. If you have any questions, please include them in the email when you respond.

Not sure if you should participate?
-Your lived experience helps researchers understand symptoms, needs, and priorities.
-In ultra-rare conditions like DEE 65, every participant counts. A single family's contribution can make a measurable difference.
-When families are involved, the roadmap reflects what matters most.
-Many successful rare disease treatments have been developed because families were active in shaping the path.

If you have already expressed interest in contributing, don’t worry. We have your email and we will reach out to you!

08/03/2025

Exciting Strides for CYFIP2 race rewards!

Have you seen our unique race medal categories? The Individual Fundraiser Strider now also includes a $50 gift card!

Race Referrals: When you register for Strides for CYFIP2, you are emailed a confirmation with a unique referral code! When 5 people sign up using your code, your registration fee is refunded! Referral refunds end August 31st, so be sure to share your link!

Registration is $12 but price increases on August 15th! There's still time to get in on the early pricing!

If you are a CYFIP2 family or supporter, please consider joining us during . Let's make this year's run fun and inspiring!

Sign up here: https://runsignup.com/Race/NC/Anywhere/StridesForCYFIP2

The Strides for CYFIP2! is on Monday September 1, 2025 to Tuesday September 30, 2025.

08/02/2025

New Research:
Impact of Genetic Variants Associated with Neurodevelopmental Disorders on the WAVE Regulatory Complex
09 July 2025

https://pubs.acs.org/doi/full/10.1021/acs.jcim.5c01162

The WAVE regulatory complex (WRC) is a heteropentamer necessary for the regulation of actin cytoskeleton. Genetic variants in components of the WRC have been associated with increased risk for neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD). Some of the missense variant...

08/02/2025

New blog post: the easiest ways to fundraise. ever.

Because supporting our efforts shouldn’t be a stressful task or a financial burden to families and supporters.

Check out these effortless or low effort, free or low cost ways that you can rally your community to help the CYFIP2 Network advance research and support affected families.

Support the CYFIP2 Network's programs:We gratefully welcome direct donations, but even more powerful is when families and supporters choose to fundraise. Fundraising not only spreads awareness of CYFIP2-related disorders, it also helps lift the financial burden from families already navigating compl...

07/31/2025

Thank You to the North Carolina Museum of Life and Science for their generous donation to our race auction, running alongside the Strides for CYFIP2 Virtual 5k!

Check out these items on our auction site, and be sure to register for the Strides for CYFIP2 Virtual 5k!
https://runsignup.com/Race/NC/Anywhere/StridesForCYFIP2

07/29/2025

The CYFIP2 Network is a collaborator with CVI Now!

This marks an important step toward raising awareness about the visual challenges many of our CYFIP2 kids face.

Cortical Visual Impairment (CVI): Unlike eye-based vision loss, CVI is caused by the brain’s difficulty processing visual information. It often co-occurs with conditions like epilepsy and genetic disorders, including CYFIP2-related disorders.

Check out CVI Now’s Doctor Directory, for how to find a doctor who is able to evaluate for and diagnose CVI in the US and UK:

https://www.perkins.org/how-to-find-a-doctor-who-is-able-to-evaluate-for-and-diagnose-cvi/ -directory

Use our CVI Doctor Directory to find a medical professional in your area who may be able to evaluate for and diagnose CVI.

07/29/2025

Today, we had the opportunity to do a with RARE Revolution Magazine, where we shared a glimpse into the CYFIP2 journey, one filled with progress and strength.

To those who took a moment to read, watch, or even silently absorb what was shared: thank you. Every view means awareness for CYFIP2.

For those of us living in the rare CYFIP2 world, it often feels like we’re shouting into the void. But each time we speak up, we’re building something that matters.

If you missed the takeover, you can still check it out on the Rare Revolution Magazine page. Please consider sharing 👈

Thank you!

07/28/2025

2nd MENA Congress for Neurogenetic Disorders 2025 will take place on 17-18 October 2025 at Dubai, United Arab Emirates.

This Congress will be the largest regional event dedicated to neurogenetic disorders. The upcoming meeting will feature over 30 expert speakers Including international experts engaging in thought-provoking discussions and exploring innovative approaches to the diagnosis, treatment, and management of a wide range of neurogenetic conditions. Key topics will include genetic epilepsies, neurodegenerative and white matter disorders, movement disorders, neurometabolic diseases, neurodevelopmental disorders, neuromuscular diseases, as well as updates in diagnostics and advancements in therapeutics.

This conference is designed to serve as a premier platform for acquiring the latest knowledge, sharing clinical and research experiences, fostering professional networks and collaborations, and inspiring innovative research in the field of neurogenetic disorders. Ultimately, it aims to contribute to improved patient care and better health outcomes across the region. For more information and to register, please visit our website: https://neurogenetics.ae/