News

Researchers have linked a newly identified mutation affecting the HSPB1 gene to a rare subtype of Charcot-Marie-Tooth disease (CMT) in a recent case report from India. The case report, “Charcot Marie Tooth disease 2F and a novel mutation from India,” was described by a team at the…

The online community GeneFo will hold a free webinar this month to provide those living with Charcot-Marie-Tooth (CMT) disease with updated insights into exercise and physical therapy strategies to help manage symptoms. The event, titled “Exercise and Physical Therapy Strategies for CMT Symptoms,” will be held March 29…

Genetic sequencing and the speed with which it can help diagnose a child’s disease — in addition to revealing the genes that cause at least half of the 7,000 rare diseases currently known — was the focus of a discussion by three top New York geneticists. The Feb. 28 conference,…

One in every 5,943 Koreans has deletions in material that is part of the PMP22 gene linked to Charcot-Marie-Tooth disease type 1A (CMT1A), researchers estimate. A team led by scientists at the Samsung Medical Center in South Korea, in collaboration with LabGenomics, conducted a genetic study of…

Researchers have discovered that a molecular mechanism involving critical proteins for nervous system development may help explain targeted neuromuscular defects in Charcot-Marie-Tooth disease type 2D (CMT2D). The study titled, “Plexin-Semaphorin Signaling Modifies Neuromuscular Defects in a Drosophila Model of Peripheral Neuropathy,” appeared in the journal Frontiers in…

Researchers have discovered a cellular “switch” that regulates the production of the correct amount of fat molecules needed for cells to create the myelin layer that protects neurons. The switch was found to rely on the fatty acid synthase enzyme, or FASN, which, when absent or inactive, leads to defective…

When it comes to rare diseases, one that definitely makes the list is spinal muscular atrophy with respiratory distress — SMARD,  for short. Hunter Pageau, a 12-year-old boy from North Haven, Connecticut, is one of only 80 people in the world known to have SMARD, a motor neuron disease…

An abnormal protein interaction that led to nerve fiber degeneration in a mouse model of Charcot-Marie-Tooth (CMT) disease type 2D may suggest a new approach to developing treatments for this disease subtype. The study, “Aberrant GlyRS-HDAC6 interaction links to axonal transport deficit in Charcot-Marie-Tooth neuropathy,” appeared in…

In his 10 months on the job, Commissioner Scott Gottlieb of the U.S. Food and Drug Administration is earning praise for his efforts to make clinical trials for new therapies more flexible and responsive to the needs of rare disease patients. From cystic fibrosis to epidermolysis bullosa, the FDA…

At a time of unprecedented polarization in Congress, two U.S. lawmakers — one Republican, one Democrat — are stressing the urgency of working across the aisle to help the estimated 30 million Americans with rare diseases. Rep. Leonard Lance (R-New Jersey) and Sen. Amy Klobuchar (D-Minnesota) spoke to more…