PARENT-LED. SCIENCE-DRIVEN.
WE'RE BUILDING THE PATH TO TREAT AND CURE CASK GENE DISORDERS.
Project CASK initiates and advances promising therapeutic programs through strategic funding and research infrastructure designed to de-risk development. We build global partnerships across science, medicine, industry, and the CASK community with one goal: safe, life-transforming therapies for people with CASK.
$650,000 +
committed to CASK gene disorder research
11
studies underway
550 +
CASK Liocorn families worldwide
54
countries represented
MARK YOUR CALENDAR
WHEREVER YOU BEGIN, THE DESTINATION IS TREATMENTS.
Progress depends on people with different expertise moving in the same direction.
Start with the route built for you.
For Researchers & Clinicians
Project CASK initiates and funds rigorous research guided by our Scientific Advisory Board—from gene therapy and small molecules to disease models, natural history, and clinical readiness. Explore funding opportunities, active studies, open-access biological resources, and ways to collaborate.
For Affiliates
Project CASK works with researchers, institutions, and CASK organizations worldwide through the PC Global Network — one shared Scientific Advisory Board, one shared Global Therapeutic Roadmap.
WHAT IS A CASK GENE DISORER?
A CASK gene disorder is an ultra-rare neurodevelopmental condition caused by changes in the CASK gene on the X chromosome. Presentations include MICPCH—microcephaly with pontine and cerebellar hypoplasia—and X-linked intellectual disability (XLID), with or without nystagmus. Effects vary widely and may include developmental delay, intellectual disability, epilepsy, movement and muscle-tone differences, and vision, hearing, or gastrointestinal problems. No disease-modifying treatments are approved. Project CASK exists to change that.
One gene. A broad spectrum. An urgent need for answers.
Project CASK is a labor of the most profound love born from the belief that we can make miracles happen and powered by parents united in purpose."
- Hitomi Kubo, Co-founder
OUR RESEARCH.
CASK Gene Research in Motion.
Multiple approaches. One coordinated strategy.
Project CASK advances gene replacement and small-molecule programs, actively explores additional therapeutic strategies, and builds shared tools, data, and resources that can support many approaches: next-generation mouse models, patient-derived iPSC and cerebellar organoid models, natural-history data, outcome measures, and a CASK biorepository.
NEWLY DIAGNOSED
CASK GENE DISORDER
It's a club none of us wanted to be in. A CASK gene disorder diagnosis changes everything. It's also quite frankly the most loving, supportive, community-driven group of families you might ever have the pleasure of meeting. First and foremost we want you to know that you are not alone. We are parents who have faced this diagnosis and no matter how much time passes, we all remember diagnosis day.
Second, we want you to know that Project CASK is passionately dedicated to driving research breakthroughs to find treatments and a cure, enabling people affected by CASK to live a life of independence, free of the debilitating effects of CASK related disorders.
Tap below to find out where to start, what to expect, and what we secretly refer to our gene as...
With love and a ROAR,
The Team at PC
OUR FUNDING AT WORK.
A $375,000 investment. A global validation.
In 2023 Project CASK was introduced to Dr. Huda Zoghbi and Dr. Mingshan Xue at Baylor College of Medicine where Dr. Xue had already begun exploring CASK gene disorders. Recognizing the promise of his early work, we committed $375,000 in 2024 to advance his gene therapy program. That same year, we connected Dr. Xue with the Oxford-Harrington Rare Disease Programme.
In 2025 Dr. Xue was named an Oxford-Harrington Rare Disease Scholar—one of the most selective therapeutic development honors in the world. The award validates both his science and the strategic judgment of parent-led funding deployed at the right moment.
Dr. Mingshan Xue and members of his research team with Project CASK leadership.
CASK gene disorder research enters a federal drug development pipeline.
The Critical Path Institute Translational Therapeutics Accelerator (TRxA) launched its 2026 BRIDGe program, focused on rare diseases, pediatric conditions, and brain health.
Project CASK is partnering with C-Path to co-fund translational studies targeting CASK gene disorders, providing researchers dedicated funding and regulatory support to translate CASK science into treatments.
Update: A CASK gene disorder submission has been accepted into the program, marking a significant step toward clinical translation.
In my life, you are the sun that never fades and the moon that never wanes.
Shine on, my child.
-unknown
HOW WE WORK
We accelerate the scientific breakthroughs needed to treat and cure CASK gene disorders. We pursue every promising path, ask bold questions, convene world-class scientists, build the infrastructure the field needs, and accelerate research toward effective therapies.
VISION
A future where every person with a CASK gene disorder can live a longer, healthier, and more independent life.
MISSION
Project CASK exists to unlock the full potential of science and technology to develop treatments—and ultimately a cure—for CASK gene disorders.
VALUES
Urgency. Scientific Excellence. Collaboration. Innovation.
JOIN THE RESEARCH.
PROJECT CASK GLOBAL PATIENT REGISTRY
& NATURAL HISTORY STUDY
Every family that registers and enrolls is directly advancing the science. The information you share builds the evidence base that researchers, clinicians, and drug developers need to create treatments for CASK gene disorders.
There are two ways to participate. Both matter. Thank you for considering being a part of something so powerful.
1: Register with Project CASK
Add your loved one to the official PC Global Patient Registry. Your registration helps us track diagnosed individuals worldwide, understand the full scope of CASK gene disorders, and make the case for pharmaceutical investment.
2: Enroll in the Natural History Study
Through our partnership with Citizen Health, families can contribute longitudinal clinical data through a secure digital platform. This FDA-grade natural history data is essential for designing future clinical trials.
PC GLOBAL NETWORK.
One scientific roadmap. One global SAB. Every dollar coordinated toward the same goal.
Project CASK leads the Project CASK Global Network; a coordinated alliance of independent CASK nonprofits united by one shared Scientific Advisory Board and one Global CASK Therapeutic Roadmap. Every dollar raised anywhere in the network supports the same research priorities, compounding the impact of parent-led funding across borders.
Our Research Ecosystem
Your gift today helps fund the research, tools, and treatments needed to change the future for children living with CASK gene disorders. Fewer than 600 families worldwide face this ultra-rare condition, which means progress depends on the power of our community... people like you.
Together, we can make waves in science, hope, and change. Every dollar you give is a drop in the bucket that fills toward cures.
LEND A HELPING HAND
With your help, treatments and a cure are possible.
Thank you for considering taking action to change the lives of people
with CASK disorders; your support matters!
Are you a creative? Into tech? So many ways to give!
Like to entertain? So do we.
Let's plan something!
Not a ton of time and still want to raise funds?
We got you.