Why This Matters
Reveal the root causes of this rare disease in children
Provide tools for scientists worldwide to develop treatments
Give hope to families like mine, who have lost children to this disease
Funding Research to Uncover Breakthroughs.
We are fighting to uncover the causes of one of the rarest and most devastating conditions affecting children: SPTLC2-related pediatric ALS - A rapidly progressive neurodegenerative disease that robs children of muscle control and, ultimately, their lives.
WHAT WE DO
Our Research Goals
AIM 1: Map the Broken Pathways
Using advanced proteomics, we will identify which proteins are disrupted in SPTLC2-ALS, revealing the "wiring failures" that cause the disease.
AIM 2: Identify Disease Fingerprints in Cell Lipids
We will study specific fats called sphingolipids, which are often altered in neurological disease, to discover a "disease fingerprint" that can help in early detection and treatment design.
_edited.png)
AIM 3: Model the Disease in Motor Neurons
We will turn patient-derived stem cells into motor neurons - the cells most affected in ALS - to watch how the mutation changes their biology and test ways to protect them.
