Cyfip2 Network

12/04/2025

CYFIP2 Family Meeting:

For families interested in meeting virtually over Zoom during the week of December 14-20, email support@cyfip2network.org for a sign up sheet with time/day availability options. We will have translating captions available.

Due to very limited participation, this will be the last CYFIP2 Network hosted family meeting.

12/02/2025

RESEARCH ROADMAP INSIDE LOOK:

One of the most exciting sections of the CYFIP2 Research Roadmap is all about disease models: the tools scientists rely on to understand how CYFIP2 affects the brain and body.

Inside the roadmap, we break down the development of mouse models, cell lines, and zebrafish, each offering a different window into how CYFIP2 dysfunction works. These models are essential: they help researchers study symptoms and explore potential treatments long before anything reaches a clinical trial.

Right now, most available CYFIP2 models feature the R87C variant, which has been critical for advancing early science. But we also highlight how creating new cell lines with other CYFIP2 variants could offer information we simply don’t have yet.

And here’s where our community comes in.
With enough family participation, a Giving Tuesday gift to the CYFIP2 Network could help us launch our own dedicated biorepository, a centralized, secure resource where donated samples from families could be used to generate new cell lines, aid in drug repurposing efforts and accelerate discoveries across the entire CYFIP2 spectrum.

Every contribution brings us one step closer to the tools researchers need and the answers we hope for. 💙

Consider donating at: https://secure.givelively.org/donate/cyfip2-network-inc/a-cure-for-cyfip2-dee

12/02/2025

CYFIP2 Data Collection Program Insights:

The CYFIP2 Data Collection Program was launched through RARE-X, a research program of Global Genes. This program is available to families worldwide and allows families to contribute to research from home! There are no required clinic visits and there is no cost to participate.

This program is different from any ongoing natural history studies and you control your data. Register today and join families who are making a difference for CYFIP2.

https://rare-x.org/cyfip2/

12/02/2025

RESEARCH ROADMAP INSIDE LOOK:

What is "drug repurposing?"

"Creating an entirely new pharmaceutical drug is an expensive and time consuming process and there is little economic incentive to pursue new treatments for ultra-rare diseases. However, finding a new use for an old drug is relatively inexpensive and fast. A little over 300 chemical compounds that act on targets within the brain have been approved for use in humans, and while none of those drugs were approved to treat DEE65, it is possible that one of them has a biological effect that would be beneficial to patients." - CYFIP2 Research Roadmap

"...the next step to determine if compounds would be beneficial to DEE65 patients is to test them in a cell-based assay that would indicate either a restoration of normal Cyfip2 function or removal of the unwanted function..." -CYFIP2 Research Roadmap

At least three labs, both in the United States and internationally, are actively creating these cell-based assays. A complete list of the locations of CYFIP2 disease models to date is included in the roadmap!

A gift to the CYFIP2 Network today helps us keep this important work going. If able, please consider donating to help us move these studies forward for CYFIP2 children. Thank you.

https://secure.givelively.org/donate/cyfip2-network-inc/a-cure-for-cyfip2-dee

Quote: "When I am working on a cell line in the lab, I remind myself that this is a cell from a patient who has a family. It is important to stop and think about that sometimes."
– Dr. Isabelle Zaboroski Silva

12/02/2025

RESEARCH ROADMAP INSIDE LOOK:

How do scientists become interested in studying CYFIP2?
We asked the leading CYFIP2 researchers what sparked their interest!

Their responses came from very different areas of study but all led to significant contributions:
1. A study to find the reason why two related strains of mice respond differently to co***ne,
2. Parents of a child with epileptic encephalopathy looking for answers in laboratory science,
3. A search for genes that control the response of fish larvae to loud noises,
4. A molecular dissection of the components of a protein complex that controls cellular movement and shape,
5. An investigation into the cause of Fragile X syndrome.

✨ Together, these unexpected paths met to understand CYFIP2 and improve the lives of the children and families living with CYFIP2 conditions.
This is the power of science and community.

12/02/2025

Its Giving Tuesday and we're kicking it off now for CYFIP2!

Today, we are coming together to fuel hope, accelerate research, and stand behind every child and family affected by CYFIP2.

As a thank-you to donors who give today, we’re gifting CYFIP2-engraved Christmas ornaments, a small symbol of the light you bring to our community.✨🎄

And all day long, we’ll be sharing sneak peeks of our CYFIP2 Research Roadmap: the collaborative, global effort charting the path toward understanding, treatments, and impact. Your support is what makes this work possible.

💙 Join us today. Give hope. Spark progress. Be part of the story.
Donate → https://secure.givelively.org/donate/cyfip2-network-inc/a-cure-for-cyfip2-dee

Thank you for showing up for CYFIP2!

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 ca...

12/02/2025

📣 Big News for Rare Kids!

The House of Representatives just passed the Give Kids a Chance Act! It now heads to the Senate for approval and this is a BIG deal for families affected by rare pediatric diseases, including CYFIP2-related disorders.

What this bill does:

•Re-authorizes the Rare Pediatric Disease Priority Review Voucher (PRV) Program through 2029.

•The PRV gives companies a major incentive to develop treatments for rare childhood conditions by offering a fast-track FDA review (or a voucher they can sell to fund more research).

•Strengthens requirements for completing pediatric studies so kids aren’t left behind in drug development.

Why it matters for CYFIP2:

Because CYFIP2 is ultra-rare, companies often hesitate to invest. Extending the PRV program helps make developing treatments (including repurposed drugs or future targeted therapies) financially realistic. Every bit of incentive helps bring CYFIP2 children closer to the therapies they need.

Next step: The Senate must pass it. Please stay engaged and keep raising your voice for CYFIP2 kids 💙

11/30/2025

✨ Giving Tuesday December 2nd ✨

This year, every donor who supports our CYFIP2 Drug Repurposing Initiative on Giving Tuesday will receive this special rose-gold ornament, created just for our community. It’s a symbol of our tiny superheroes… rare, magical, and worth everything.

Behind the scenes, only a small handful of CYFIP2 families are currently helping to push research forward, connect with scientists, and build the groundwork for targeted treatments. Even though our community is small, the hope we create together is powerful, and every person who contributes becomes part of that momentum.

Your Giving Tuesday gift helps us take the next big step: launching a drug repurposing pathway to identify treatments faster and at a fraction of the cost. It’s the kind of effort that simply doesn’t happen without supporters like you.

🌟 Donate on Giving Tuesday
🌟 Receive our 2025 thank you ornament
🌟 Help us move CYFIP2 research forward for every child who needs it

Thank you for believing in rare kids with extraordinary strength. Your support truly lights the way. 💛🎄

Donate on Giving Tuesday at: https://secure.givelively.org/donate/cyfip2-network-inc/a-cure-for-cyfip2-dee

11/19/2025

We are looking for family photos and quotes to be featured in the CYFIP2 Research Roadmap!!

We are currently working on the finishing touches (and translated versions) of the research roadmap! If you are a CYFIP2 family and would like your child/family to be featured in the roadmap document, please send photos to support@cyfip2network.org

This document includes over 50 pages of CYFIP2 information and will be available to families, scientists and clinicians! Join us in creating a valuable resource that highlights our community 🩵

11/18/2025

💙 Giving Tuesday is just 14 days away 💙

This year, we’re focusing our Giving Tuesday efforts on a project that could help every CYFIP2 child: our drug repurposing initiative.

Drug repurposing is a powerful strategy because it searches for treatments among medications that already exist, medicines that are already FDA-approved, already have safety data, and are already being used for other conditions. Instead of starting from scratch, we test whether any of these known drugs can correct or stabilize the biological pathways disrupted by CYFIP2 mutations.

Can we raise $25,000 by Giving Tuesday to launch this effort? With enough families and supporters standing together, we believe we can!

We also have a special Christmas thank you to all of our Giving Tuesday Donors.

In 14 days, we come together not just to hope, but to act for ALL CYFIP2 children.

11/14/2025

✨ Big News for the CYFIP2 Community! ✨

Today we had the incredible opportunity to meet a scientist who is studying compounds that act on key pathways involved in CYFIP2 disorders.

It was really awesome because she wasn’t just brilliant, she genuinely cared about helping families and communities like ours. We are really grateful for this opportunity!

We can keep this momentum going. Studies like this move faster when families come together and when research funding is available. Right now, we have a fundraising campaign that directly supports early stage studies for potential treatments. There is even an option for families to start their own fundraiser, in their own words.

If you’ve been waiting for the right time to get involved, this is it. Start a fundraiser to help support these studies. Share your campaign. Join the meetings! Donate if you can. Because the research starts with us.

https://secure.givelively.org/donate/cyfip2-network-inc/a-cure-for-cyfip2-dee

11/13/2025

Every CYFIP2 family counts and time matters.

The CYFIP2 Data Collection Program is the global patient registry dedicated to all CYFIP2 disorders. By joining, you’re giving researchers the critical data they need to understand the condition, attract scientific interest, and move us closer to treatments.

To the families who have already registered, thank you for strengthening our data, voice, hope and progress. 💙

If you haven’t signed up yet, please don’t wait. The sooner we come together, the faster progress can happen for all of our children.

👉 Join (free and from home) today: https://rare-x.org/cyfip2/