Neuromuscular Diseases Biosample Collection

ALS immune system

In collaboration with the Regenerative Medicine Biotrust, Dr. Staff's research team has collected skin biopsies from hundreds of people with neuromuscular disorders, primarily with amyotrophic lateral sclerosis (ALS) or hereditary peripheral neuropathy (Charcot-Marie-Tooth disease). Many of these skin samples have been reprogrammed into induced pluripotent stem cells (iPSCs) and are widely available for collaborations with researchers worldwide.

Hereditary peripheral neuropathy and ALS skin fibroblasts and iPSC production

In collaboration with the Center for Regenerative Medicine Biotrust, the Translational Neuromuscular Disease Research Lab identifies, enrolls and collects skin fibroblasts from people with neuromuscular diseases, focusing on Charcot-Marie-Tooth disease and amyotrophic lateral sclerosis (ALS). Many of these skin fibroblast lines have been reprogrammed into induced pluripotent stem cells (IPSCs), which can then be potentially differentiated into any cell type in the body for further studies. The Translational Neuromuscular Disease Research Lab is using these samples to study chemotherapy-induced peripheral neuropathy and Charcot-Marie-Tooth disease. Importantly, these samples are available for use collaboratively throughout the research community. For more information, contact the Biotrust.

ALS blood and cerebrospinal fluid

The Translational Neuromuscular Disease Research Lab identifies, enrolls and collects blood and cerebrospinal fluid (CSF) from people with amyotrophic lateral sclerosis (ALS). These samples are sent to our collaborators at Mayo Clinic's campus in Jacksonville, Florida, for detailed mechanistic studies on the pathogenesis of ALS. Recent collaborations with Allan B Dietz, Ph.D. and Michael P. Gustafson, Ph.D., have revealed an altered peripheral blood immune system in people with ALS. This allows people with ALS who come to Mayo Clinic to actively contribute to research studies and the eventual cure of this disease.