RAO Network

KAT6A Foundation

Emile Najm (far left), four children (middle), and Emile’s wife (far right) pose in front of a poster about genes and DNA

Peter Najm, who has the rare disease KAT6A Syndrome, presented his poster about genes and DNA to school management alongside his siblings and parents. Photo courtesy of the KAT6A Foundation.

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:

Development of a Scientific Advisory Network, launched crowdsourcing projects, established collaborative network databases, organized an International KAT6A and KAT6B Symposium for Researchers and designed patient-focused research funding opportunities to increase research pilot projects

Expansion and diversification of our Board of Directors

Expansion of our Fundraising Committee

Expansion of our patient registry to include KAT6B patient community

“If a patient organization doesn't exist, start one and join forces with other rare diseases to advance the progress of research.”

KAT6A Foundation

Alone we are rare, together we are strong

Research Progress & Capacity Building Updates

Science Funding

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