Donate today and help support gene therapy research for CASK Gene Disorder

Get to know us

As a non profit foundation, our purpose is to raise funds and donate them to scientific research that is focused on first creating gene therapy cure for CASK Gene Disorder.Our mission is to cure CASK for all children, first the boys, and then all girls as well.

In order to raise funds, we need volunteers. Volunteers are the lifeblood of our organization. Volunteering your time and efforts could lead to a breakthrough gene therapy for CASK Gene Disorder. The technology from this treatment could be utilized to help other diseases as well.

What is CASK Gene Disorder?

Watch this video to quickly learn about CASK Gene Disorder, and get to know one boy with CASK, Anthony!

kids in spiderman and Captain America costumes

Meet our CASK Warriors

What is CASK Gene Disorder

SYMPTOMS OF CASK GENE DISORDER

CASK Gene Disorder is a genetic mutation on the X chromosome, specifically the CASK genes that code for different proteins. CASK stands for calcium/calmodulin-dependent serine protein kinase. It is a disorder that affects the way the brain forms, the way neurons (brain cells) communicate with each other, the release of neurotransmitters and action potentials among other widespread effects. Basically, the nerve signals sent between brain cells in one region of the brain to different brain regions are adversely affected. Also, nerve signals sent from the brain to other body parts are affected. As you can imagine, the effects are widespread and significant. Additionally, CASK Gene Disorder leads to decreased post-synaptic acetylcholine release at neuromuscular junctions, leading to poor muscle contraction. CASK Gene Disorder brings many challenges, essentially to everything the body and brain does.

The challenges that CASK Gene Disorder brings are numerous and vary in severity and presentation between individuals with the genetic disorder. The effects are generally severe and life threatening. CASK universally causes hypotonia (low muscle tone). Many with CASK Gene Disorder cannot sit, crawl, stand, talk or walk. CASK also causes epilepsy (seizures) in at least 40% of cases. Vision and hearing impairment are common resulting in central visual impairment (cortical blindness), nystagmus, and auditory processing disorder (intermittent deafness). Digestive problems are severe in CASK as it causes severe hypomotility of intestines and inconsistent and slow stomach emptying (gastroparesis), severe constipation, GERD (reflux), and vomiting. Many children with CASK need a feeding tube and have severe feeding difficulties that are life threatening.

CASK Gene Disorder also causes Macrocephaly (large head size) which is rare, or Microcephaly, (small head size) which is common. Many with CASK have the inability to normally regulate body temperature. This leads persons with CASK to quickly overheat, have difficulty cooling off,or have difficulty staying warm. Some CASK patients also warm up when asleep instead of cooling down when falling asleep which is typical of people without this disease. Developmental regression happens often and may be caused by infection, stress, anesthesia, or seizures. Regression can be life threatening. Other problems include obstructive sleep apnea, apraxia of speech, speech delay, and being completely nonverbal. Finally developmental delays are a hallmark symptom of CASK Gene Disorder.

Our mission

CASK Warriors Foundation is a nonprofit that is focused on funding a gene therapy cure for CASK Gene Disorder. The most desired outcome for those affected with CASK Gene Disorder is the complete elimination of the disease and gene therapy is the only way to achieve this goal.

Our vision

The funds that are raised by CASK Warriors Foundation will be used to fund gene therapy for boys with CASK Gene Disorder as other treatments for CASK are unlikely to have a significant effect due to the large size of the CASK gene, its effects on the brain and nervous system, and the numerous downstream effects on the human body and physiological functioning caused by a mutation on the CASK Gene.

Our team

Our strength lies in our understanding of CASK Gene Disorder and plan to pursue gene therapy research utilizing the latest and most advaned technology available to directly target and eliminate CASK Gene Disorder