The Kat6a Foundation Inc

The KAT6A Foundation was created in 2017 by parents of children identified with a mutation in the KAT6A gene.

We are the first ever 501(c)(3) nonprofit organization founded to support the international KAT6A syndrome community.

WHAT IS KAT6A SYNDROME?

KAT6A is a rare syndrome resulting from a mutation in the KAT6A gene. Through genetic research, we have learned that the KAT6A gene makes the KAT6A protein. The KAT6A protein is involved in controlling the production of proteins from other genes. Therefore, when there is a change on the KAT6A gene, problems can occur in various parts of the body. Currently, scientists do not know all of the functions of the KAT6A gene so our knowledge will increase as research advances.

Through 2019 about 200 people have been diagnosed with KAT6A from around the world. Individuals were identified through a test called Whole Exome Sequencing.  In most of the cases, the KAT6A mutation was de novo, meaning that it was not inherited from either parent.

Each person with KAT6A syndrome has a different mutation along the KAT6A gene, which leads to a wide range in symptoms and features. Common traits are: developmental delay, intellectual disability, feeding difficulties, constipation, acid reflux, significant speech and language deficits, vision problems and hypotonia.  Less common traits include: heart defects, seizure disorders, frequent infections, sleep disturbances, abnormal muscle tone, autism, sensory issues, skull abnormalities and distinct facial features. It is important to note that many parents describe their children as happy and healthy despite global developmental delays.

OUR MISSION

Our mission is to support families coping with this extremely rare disease. Since we are just beginning to know about the complexities of  KAT6A, it is imperative that we raise funds to further research that will inform families, identify treatments and lead to a cure.  It is equally important that we increase awareness and identify more individuals with KAT6A so that researchers give our community greater consideration.

DRIVING RESEARCH

• Stem cell research on KAT6A is advancing at UCLA and in Israel.
• In Australia, KAT6A mice studies are underway with the future goal of potential treatments being tested.
• An international speech study has commenced on KAT6A and KAT6B individuals.
• A pilot study regarding cognitive phenotypes is in development at John Hopkins University.
• In January 2019, The KAT6A Foundation and the National Organization for Rare Disorders launched the largest-ever study to research KAT6A Gene Mutation that causes KAT6A Syndrome. The new study, KAT6A Patient Registry, creates a platform for patients around the world to share information about KAT6A Syndrome. Its purpose is to build an international resource to be used by scientists in future research.

BRINGING FAMILIES TOGETHER

The KAT6A Foundation is the official sponsor of the annual KAT6A Clinic that takes place in Baltimore, MD at the Kennedy Krieger Institute. For the past two years we successfully united families and provided a unique opportunity to educate our support group members by experts in genetics and research.  We look forward to bringing together even more families at our third KAT6A Clinic on March 28, 2020.

RAISING AWARENESS

We strive to support individuals with KAT6A by raising awareness about this rare disorder and by spreading a message of acceptance.  We are active on social media, in the press, and in our communities. The KAT6A Walk to Find a Way is one of our biggest awareness and fundraising events. It takes place every September.

JOIN US

We hope that you will reach out to us if your family member was diagnosed with KAT6A syndrome. We empathize with your daily struggles and are here to support, educate and learn from you.  

"Alone, we can do so little; together we can do so much." - Helen Keller