What We Do

What We Do

We aim to develop novel therapies based on individual’s own specific genotype, a process to identify diseased causing genes and then to develop individualized treatments for Spinal Muscular Atrophy (SMA), also known as floppy baby syndrome, which is a neuromuscular disease.

There is currently no cure for spinal muscular atrophy. Treatment for children affected with SMA is focused on treating their symptoms, preventing complications, and improving their quality of life.

Our Starting Point

Identify which cell types are most affected or most relevant. (already done)

Generate some pluripotent stem cell lines using Diyanna’s own cells and Gene-modified control cells. (will need $10K-$20K)

Establishment of Master of Working Cell Stocks, for differentiation to the relevant cell types, confirmation of the CACNA1E mutation. (will need ~ 3 months of a research assistant)

Functional studies such as electrophysiology. (will need a high – quality PhD student)