Alone we are rare, together we are strong
Emile Najm’s son was diagnosed with KAT6A in 2017. Since then, he has established the KAT6A Foundation and led the work of initiating the KAT6A patient registry with the National Organization for Rare Disorders (NORD). In 2021, the registry includes more than 60 percent of known KAT6A patients worldwide. Emile says, “If a patient organization doesn’t exist, start one and join forces with other rare diseases to advance the progress of research.”
KAT6A Syndrome has a wide range of symptoms including developmental delays, intellectual disabilities, feeding difficulties, constipation, acid reflux, significant speech and language deficits, vision problems, and hypotonia (weak muscle tone). There are currently no treatment options, and symptoms are treated with medical procedures and physical, occupational, behavioral, and speech therapies.
Going forward, the KAT6A Foundation aims to collaborate with researchers and clinicians to accelerate progress within the KAT6A Syndrome and other similar rare diseases, such as KAT6B. Through the Rare As One Network, the Foundation created a long-term research roadmap that is helping bridge learnings within KAT6A/KAT6B and across other similar chromatin remodeling disorders.
Research Progress & Capacity Building Updates
Since the award of the CZI Rare As One grant, the KAT6A Foundation has developed and expanded its capacity and governance in many major areas:
“If a patient organization doesn't exist, start one and join forces with other rare diseases to advance the progress of research.”