A combination of specific genetic mutations in Charcot-Marie-Tooth (CMT) disease that worsens peripheral nerve damage could be a helpful biomarker for predicting the severity of a given case of CMT, a Jackson Laboratory research team reports.
Scientists at the National Institute of General Medical Sciences (NIGMS) Human Genetic Cell Repository at the Coriell Institute for Medical Research in Camden, N.J., are seeking blood samples from people with certain inherited neuromuscular diseases for use in research. I have been in contact with Tara Schmidlen, a genetic counselor for the project, who says that they do not yet have any samples from individuals with Dejerine-Sottas in their collection. Read on for more information if you’re interested in helping to fill in the gaps in their scientific knowledge. Continue reading Biobank Collecting Blood Samples for Neuromuscular Disease Research→
Antibodies — warrior proteins the immune system makes to defend the body against invading pathogens such as viruses and bacteria — have a gentler side nobody knew about until now: They function not only as soldiers but also as nurses. And researchers at the Stanford University School of Medicine now think antibodies’ absence in the central nervous system (the brain and spinal cord) may be a key part of the reason why nerve damage there doesn’t get naturally repaired in humans. That insight could someday lead to new treatments for stroke and spinal-cord trauma. Continue reading Stanford study first to show antibodies involved in nerve repair in injuries→
by Josephine Gillespie for The Queensland Times At only 13, Chantelle Lawrence has already seen the inside of more hospitals than most people will in a lifetime. Born with a rare progressive neuromuscular condition known as Dejerine-Sottas Syndrome, Chantelle has Continue reading Variety appeal to set Chantelle Lawrence free→