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About Project CASK
Project CASK is a parent-led, scientifically-guided nonprofit organization dedicated to finding treatments—and ultimately a cure—for CASK gene disorders, an ultra-rare and severe neurogenetic disorder that affects fewer than 600 children globally.
CASK gene disorders affect fewer than 600 people worldwide. They deny children abilities many take for granted — movement, speech, independence, good health — and they have no treatments or cure. Because of its ultra-rare status, therapeutic development for CASK is often overlooked by industry and underfunded by traditional research pipelines. As such, this work is only possible because of families, friends, and donors—many of them drawn in by events like the Ultra Rare Collection.
In 2024, through funds raised by the first Ultra Rare Collection and other efforts, Project CASK funded the first-ever gene replacement therapy study for the disorder at Baylor College of Medicine.
View our board members and leadership team here
View our Scientific Advisory Board here
About CASK gene disorders
The CASK gene is located on the X chromosome and provides instructions for making a protein called calcium/calmodulin-dependent serine protein kinase (CASK). The CASK protein is primarily found in nerve cells (neurons) in the brain, where it helps control the activity (expression) of other genes that are involved in brain development. It also helps regulate the movement of chemicals called neurotransmitters and of charged atoms (ions), which are necessary for signaling between neurons (Medline Plus, 2014).
Mutations in the CASK gene are associated with two main related disorders that impact brain development: microcephaly with pontine and cerebellar hypoplasia (MICPCH), and X-linked intellectual disability (XL-ID) with or without nystagmus. MICPCH typically causes more severe symptoms than XL-ID. Females have two copies of the X chromosome, whereas males only have one copy; thus, when males have a mutation on their CASK gene, they typically have more severe signs and symptoms than do females. Research suggests that the more severe MICPCH mostly affects females, likely because only a small number of males with MICPCH survive to birth (Medline Plus, 2014).
Media Highlights:
3 June 2025 - LEX18/NBC by Alex Barber
Emilia "Emi" Joseph loves looking through books, catching bubbles, and spending time with her mother, Kelsey Joseph. But when Emi was a newborn, her mother noticed something wasn't adding up.
6 May 2025 - KSBY/NBC by Kelly Wollschlager
This Mother's Day weekend, Project CASK hosts "A Tribute to Motherhood" with the "Mother of All Art Shows".
7 December 2023 - CBS Philadelphia by Wakisha Bailey
A local family is looking to raise awareness about CASK, an incredibly rare genetic disorder that slows brain development. Fewer than 300 people around the world have been born with CASK...
19 November 2023 - ABC57 by Danté Stanton
The Stiglitz family of Goshen is looking to raise awareness to CASK, an incredibly rare genetic disorder that affects three-year-old Sophie Stiglitz. Only one in around 300 people are born with CASK, a disability that slows brain development...
9 December 2023 - KSBY/NBC by Katherine Worsham
10-year-old Cayucos girl is one of the few with a CASK gene mutation...
30 November 2023 - Little Black Book
Project CASK creates one-of-a-kind 'Ultra Rare Collection' with 26 celebrated artists for CASK, an ultra rare gene disorder...
3 December 2023
Jerry visits and subsequently shares about the first URC on his Instagram account
Why It Matters
There are over 10,000 known rare diseases, yet 95% have no treatment. About 30% of children with rare diseases will not live past the age of 5
Project CASK is not just building hope, it’s building a model for how rare disease communities can lead the charge in scientific innovation. It’s about what’s possible when mothers, artists, scientists, and communities come together to say — our children are not too rare to matter.
For more about CASK gene disorders visit https://www.projectcask.org/about-cask
Media Contact
Hitomi Kubo
Co-founder and Senior Advisor To The Board
📧 hitomi@projectcask.org
📞 +1 (646) 465-2262
🌐 projectcask.org | @projectcask
The Liocorn
Our motto: Rare as unicorns. Strong as lions.TM
Some say our kids had a better chance of winning the Powerball than being born with a CASK gene mutation. Some in the medial community call our kids "unicorns."
Unicorns are rare, magical, pure and innocent. That sounds a lot like our kids.
But there is so much more within our children, our families, and our community.
We possess the tenacity, strength and courage of lions. A fierce determination to move mountains to help our kids reach their true potential.
And from this, our spirit animal was born. The Liocorn TM.
