In August 2021, after years of specialist appointments, genetic testing, and searching for answers, our world changed when my son, Christopher, was diagnosed with KAT6B syndrome, a rare genetic neurodevelopmental disorder. From birth, we knew he was different. He was a beautiful baby, but as he grew, developmental delays, coordination struggles, and communication difficulties […]
We are delighted to share that the Chan Zuckerberg Initiative’s, Rare As One Network Cycle 1 Impact Report, is now live on CZI’s website. The report includes our foundation’s individual and collective accomplishments during and after the grant period (2019-2023). Additionally, we are excited that the report and its key findings were published on December […]
This call for proposals invites research across basic and translational sciences aimed at improving outcomes for individuals with KAT6A or KAT6B gene variations. The foundation has historically funded individual research projects in the range of $10,000 and $50,000 annually. If you are interested in submitting a proposal outside of this range, please contact the foundation […]
ATTENTION RESEARCHERS: The KAT6 Foundation is addressing a critical research priority raised by families—gastrointestinal challenges faced by children with KAT6A and KAT6B. This population experiences a concerning increase in mortality due to poor GI motility and perforation. Tragically, we recently lost another child to GI perforation, which has heightened anxiety and urgency within the community. […]
We’re excited to announce that we’ve been selected as a 2024 #RAREis Global Advocate Grant recipient by the #RAREis program from Amgen! In total Amgen awarded 75 one-time $5,000 grants to global rare disease advocacy organizations to support programs and disease education initiatives. We’re motivated to continue making a positive impact for the rare disease […]
UCLA CHAMPION Study (Chromatinopathies and Autism: Motor Phenotyping and Indicators of Neurodevelopment) This study is being conducted both in-person at University of California, Los Angeles and virtually. Eligible children anywhere in the United States can be enrolled – study materials would be mailed and assessments are administered via videoconferencing if travel to Los Angeles is […]
Our KAT6 community is made up of many dedicated parents who advocate tirelessly for their loved ones. Recently, Kerrie, mother of a child diagnosed with KAT6A syndrome, was able to make a positive impact in her UK neighborhood for children with disabilities. Due to Kerrie’s perseverance, a playground in her local community is now more […]
Interested in newborn health? Learn about the GUARDIAN Study! The GUARDIAN Study is a free research study screening newborns for rare conditions not covered by standard tests. Early diagnosis can help start treatment as soon as possible. Your choice to participate won’t affect standard screening. Your baby’s results are confidential. Sign up after birth or […]
Tilly Collins is in the third year of her speech and language therapy degree, studying at Cardiff Metropolitan University, UK. Collins is interested in hearing your thoughts, opinions and experiences of speech and language therapy as parents of children with KAT6A syndrome. Your involvement will be a 30-minute casual interview over the phone or a […]