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Overview of Project CASK

Project CASK is a parent-led, scientifically guided research foundation driving breakthroughs in treatments and a cure for CASK gene disorders - an ultra-rare and severe neurogenetic disorder affecting less than 150 people globally, according to the medical literature (1). It was launched in August 2023 to ignite and accelerate translational research into therapeutic avenues for CASK and to galvanize interest and resources to make treatments a reality as quickly as possible, with safety and efficacy at the forefront.


Project CASK’s motto is “Rare as unicorns. Strong as lionsTM" and its spirit animal is the LiocornTM. It aims to bring innovation to rare disease advocacy and fundraising to change the landscape of drug development for ultra rare diseases, starting with CASK gene disorders. Project CASK will explore all possible therapeutic options for CASK gene disorders including gene therapies, RNA strategies, antisense oligonucleotides, and drug repurposing to find what works best and get these drugs to clinical trial with urgency.


Hitomi Kubo

Co-founder and Senior Advisor To The Board

New York, NY



Esme’s story

The spark that led to Project CASK

Three days after her 1st birthday, Hitomi Kubo and Kevin Kearse, the parents of Esme, received life-changing news. Their daughter had a mutation on her CASK gene that explained the missed milestones and the small cerebellum picked up on an MRI several months earlier. The neurogeneticist read to them from a study, explaining that Esme would likely not walk, she would certainly not develop speech, and she would probably experience intractable seizures that might steal away any developmental gains she makes. They were told there were no treatments or cure, and not much they could do aside from physical, occupational and speech therapy to support her development.


In shock and unwilling to accept that nothing could be done, they found the CASK community Facebook group, read everything they could about CASK, reached out to scientists, and enrolled Esme in as many therapies as possible. Along the way, Hitomi connected with another CASK parent, Renée Roquet, one of the administrators of the Facebook group and mama to Rooney, a 10-year-old with a CASK gene disorder. They became fast friends, starting a podcast for the CASK community to help build connections and share experiences. Feeling a strong sense of urgency to move the research needle, however, they realized they needed to do more. Together, they built a team of parents, outlined an ambitious business plan, and launched Project CASK less than 11 months after Esme’s diagnosis.

Why Project CASK

Currently, there is no known ongoing research into possible cures for CASK related disorders and only two studies into treatments that may alleviate some symptoms. According to parent-reported information in the CASK Facebook group, in 2023, six children have passed away between the ages of 20 months to 21 years old. Living with a CASK gene disorder brings a myriad of challenges for the patient and their families, from severe forms of epilepsy, motor challenges, intellectual disability, absent speech, and a host of other medical problems (1).


Developing a therapeutic for a pediatric rare disease is a Herculean effort that takes a dedicated patient advocacy group, a host of researchers from basic scientists to gene therapy experts, biotech or Pharma companies with the most leading-edge technology, and regulatory approval. It also costs on average $5 billion to develop a gene therapy (2) with the initial tens of millions for basic and translational research often falling on parents before larger-scale funding might become available. 

What we have accomplished to date


Launched the Project CASK podcast April 2023


Assembled a seven member Scientific Advisory Board


Organized the first multidisciplinary, global scientific meeting ever on CASK related disorders in partnership with the Orphan Disease Center at the University of Pennsylvania - December 4, 2023


Is poised to launch its first funding call in January 2024


Created its first major fundraiser: the Ultra Rare Collection - Ultra rare art to cure an ultra rare disease raising over $61,000

9 December 2023 - KSBY/NBC by Katherine Worsham

10-year-old Cayucos girl is one of the few with a CASK gene mutation...

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... 

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...

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 LiocornTM.

The Ultra Rare Collection

Ultra rare art, to cure an ultra rare disease

In the world of luxury, art and collectibles, being ultra rare is coveted. When it comes to ultra rare diseases, this is possibly the worst designation. To turn this weakness into a strength, Project CASK created the Ultra Rare Collection [site will be live Nov 22], an online auction of unique works of art inspired by our motto and spirit animal the Liocorn.


The first auction will be live from 30 November - 10 December with a gallery showing on Saturday, 2 December at the Eden Studio in New York City where people can also bid on the pieces. The auction will feature one-of-a-kind toys and child appropriate works of art inspired by Project CASK’s motto, “Rare As Unicorns, Strong As Lions”, and their mascot/spirit animal the Liocorn. Project CASK is collaborating with 26 artists, including renowned illustrators, like recent Cannes Lion winners, Cachete Jack,  Emmy nominated puppet maker, Laura Manns, fine artists, soft and metal sculptors, fashion designers, disabled artists living with rare diseases, Ryan Hudson-Peralta and Jess Oddi, and even Rollie Krewson, the Master Puppet Designer and Builder at The Jim Henson Company - who has worked on every Henson production since the mid-70s, and won 13 Emmys.

Facts about rare diseases


There are more than 10,000 known rare diseases - defined in the U.S. as a disease affecting less than 200,000 people - affecting roughly 1 in 10 people (or 30 million people in the U.S.) Children make up half of those affected and about 30 percent of them will die before their 5th birthday. Most of these diseases (more than 95%) have no approved treatments. (3)


About CASK


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.


CASK-related intellectual disability is a disorder of brain development that has two main forms: microcephaly with pontine and cerebellar hypoplasia (MICPCH), and X-linked intellectual disability (XL-ID) with or without nystagmus. Within each of these forms, males typically have more severe signs and symptoms than do females; the more severe MICPCH mostly affects females, likely because only a small number of males survive to birth (4).

Leadership and Board

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 to whom we are eternally grateful.

Scientific Advisory Board

We are honored to have the following men and women contribute their energy to Project CASK on our scientific advisory board. We value their leadership on our roadmap to a cure, recommendations on research grants to support, guidance on course correction and new avenues of inquiry as needed to drive forward effective treatment options for CASK gene disorders.

The podcast

Podcast Art Project CASK.png


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