May. 22, 2020
Posted by Valaree DonFrancesco
At the head of the herd is… Emile Najm, Chief Executive Officer, KAT6A Foundation
Emile most frequently checks his… Facebook account
Emile advocates for those living with… A rare syndrome resulting from a mutation in the KAT6A gene.
Emile is located in… West Nyack, New York
How Emile got here… Emile Najm’s son was diagnosed with KAT6A syndrome in 2017. Since then, he established the KAT6A Foundation and has led the work of initiating the KAT6A patient registry with the National Organization for Rare Disorders (NORD).
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.
What’s working now… The KAT6A Foundation is positioned as the only advocacy group or foundation specifically focused on the KAT6A disorder. Our patient community is small since this genetic disorder was only recently described in 2015. Therefore, the KAT6A Foundation must address all aspects of both patient family support and research support. To better understand and to gain access to the rare disease community’s collective experience, we have partnered with NORD as a member organization. This provides us access to the expertise and tools offered by NORD, as well as connections to the other 300+ NORD member organizations. We currently utilize the patient registry platform IAMRARE, which is administered by NORD.
What’s happening in 2020… The KAT6A Foundation was one of the 30 grantees for the Chan Zuckerberg Initiative. We aim to collaborate with researchers and clinicians to accelerate progress within the KAT6A syndrome and other similar rare diseases. Through the Rare As One Network, the Foundation plans to create a long-term research roadmap that will help bridge learnings within KAT6A and across other similar chromatin remodeling disorders.
In the next five years, Emile plans to… Develop a research roadmap and future funding acquisition plan in collaboration with the researchers in the network to ensure sustainability and expansion of the progress made during the two-year within the Rare As One Network project, and:
– Create collaboration with other similar chromatin remodeling disorder patient organizations and their research communities
– Expand access to resources, researchers, patient organizations, and potential therapies available in countries outside the U.S. Similarly, expand access to U.S. resources to our international community.
Tips for running your organization… Organize patients as essential partners in the research network by participating in formulating research questions. Drive participation in the patient registry. Build and strengthen communities of patients and stakeholders. Strengthen ties with advocacy associations, clinicians, and researchers.
How Emile remains hopeful… By setting up and working on meaningful goals to cure the KAT6A syndrome. The hardest years were those when my son was undiagnosed.
Emile’s most recently used NORD service… NORD helps tremendously. NORD is supporting us through the member leader Facebook group, providing templates, having the annual NORD Summit, and facilitating communication and connection for the Foundation with researchers, FDA, and doctors.
Lessons learned the hard way… We don’t take care of the things we get easily.
Emile wants you to read the following book… Louis Pasteur: Founder of Modern Medicine
If Emile found a cure and had to find another job, he would… Be looking for a cure for another disease
Emile would rather be… Playing music