Earlier this summer, we published a blog post about a rare genetic mutation found in familial transverse myelitis. The mutation, named VPS37A, was discovered in two sisters who were both diagnosed with TM at different points in their life. Dr. Michael Levy screened an additional 86 TM patients and found another patient with the same rare mutation. According to Dr. Levy, “It is statistically beyond coincidence to find three human beings with this same rare genetic mutation unless it has something to do with the rare disease they all share, TM.”
Dr. Levy and his colleagues at Johns Hopkins University have recently been awarded a research grant from the TMA to continue studying this genetic mutation in TM patients. The study will be conducted by collecting DNA samples from consenting participants using saliva kits. Dr. Levy hopes to recruit TM patients from across the United States and potentially worldwide. Travel will not be required to participate in this study as the saliva kits can be mailed, and clinical information can be provided electronically.
If you are interested in participating in the study, please visit our website. Additionally, Dr. Levy will be conducting on-site DNA sample collections at the TMA’s 2017 Rare Neuro-Immune Disorders Symposium (RNDS) in Columbus, OH on October 20th-21st, so participation in the study will be accessible to all who attend. Please indicate your research interests when you register for the RNDS.
The potential implications of this study are vast, as this is the first finding of a genetic cause of transverse myelitis. Although the study may yield only a small percentage of TM patients with the VPS37A genetic mutation, it can still help researchers learn about other cellular and immunological mechanisms that play a part in transverse myelitis.