Research-Advocacy Integration

Funds lobbying efforts through O'Neill and Associates to advance policy and funding support for Duchenne Muscular Dystrophy research.

Funds medical and scientific research to improve treatments and find a cure for Duchenne Muscular Dystrophy, including specific projects such as the Phase I/IIa Follistatin Gene Therapy Trial and the "Of Mice and Measures" study. The organization has directed over $2.6 million toward research efforts.

Provides grants to support the operations of specialized clinics, such as the UMass Memorial Duchenne Clinic, to ensure access to care for individuals with Duchenne Muscular Dystrophy.

Organizes annual events including the Step for a Cure 5K Run & Walk, Spring Dinner Dance Gala, Disco Deck Party, and teams for the NYC Marathon and NYC Half Marathon to raise awareness and funds. The 2024 Step for a Cure event engaged over 1,500 participants.

Provides benevolent support including funding for accessible bathrooms, ceiling lifts, pool lifts, accessible vans, and other medical equipment to improve quality of life for individuals with Duchenne Muscular Dystrophy.

Offers information about Duchenne Muscular Dystrophy, including its genetic basis, progression, and impact on mobility and respiration, to increase public understanding.

Operates an internet forum where families and healthcare providers can share experiences and information related to KCNMA1-linked channelopathy.

Offers educational resources and materials about KCNMA1-linked channelopathy to families and healthcare professionals to improve understanding and care.

Provides direct personal, email, and website-based communication support to individuals recently diagnosed with KCNMA1-linked channelopathy.

Funds and manages a grant program that provides financial assistance for assistive equipment, technology, and therapy treatments for individuals with KAT6A and KAT6B syndromes.

Provides financial support for scientific research into disease mechanisms, treatments, and biomarkers for KAT6A and KAT6B syndromes, including funding studies at UCLA, Spain, and eight new research projects in 2025. Also funded the first clinical description of KAT6A syndrome (2015) and the largest cohort study to date (2019).

Organizes an annual KATwalk event that raises funds and awareness for KAT6-related causes; the 2024 event raised $200,000 USD.

Runs a specialized clinical program providing comprehensive, coordinated care for patients diagnosed with KAT6A or KAT6B syndromes, integrating medical, developmental, and therapeutic services.

Runs a longitudinal patient registry launched in 2019 to collect and analyze health, development, and clinical data on individuals with KAT6A and KAT6B syndromes, supporting therapeutics development and care improvement. Includes biobanking of biospecimens and family-reported survey data on symptoms, medications, and care.

Hosts a semi-annual virtual symposium series that convenes researchers to share findings, collaborate, and advance scientific understanding of KAT6A and KAT6B syndromes.

Offers global support services including education, conference calls, and assistance with patient registration through NORD (National Organization for Rare Disorders). Includes ongoing volunteer support to help families access therapies and assistive equipment.

Attends and participates in the Parkinson's Action Network Research & Public Policy Forum annually since 2007 to advocate for research and public policy advancements relevant to dopamine-related pediatric neurotransmitter diseases.

Produces and distributes printable educational guides, maintains updated scientific references, and provides disease-specific informational resources on genetic disorders affecting neurotransmitter synthesis and metabolism in children.