News

Patient registries are a hot topic of rare disease research and many organizations are taking advantage of this resource by signing up their patient communities and connecting with researchers. Eric Sid, MD, program officer for the Office of Rare Diseases Research (ORDR), said it is difficult to estimate how…

Multiple respiratory complications, including a collapsed lung and diaphragm dysfunction, were identified in a man with Charcot-Marie-Tooth disease type 2 (CMT2) that was associated with an MFN2 gene mutation, according to a recent case study. “To our knowledge, this is the first demonstration of a CMT patient carrying an…

A new SCO2 gene mutation was identified in two brothers with Charcot-Marie-Tooth disease (CMT), and likely causes symptoms by disrupting the function of the mitochondria — the cell’s powerhouses — according to a recent case report. The mutation is one of the few described in SCO2 to be associated…

Horizon Therapeutics has launched its #RAREis Representation program aimed at increasing diversity, equity, and inclusion among patients with rare diseases. There are about 400 million people worldwide living with a rare disease; for many of them, access to diagnosis, care, and treatments can be challenging. Accessing better care depends on…

Karina Vaile is an accomplished visual artist, but a diagnosis of Charcot-Marie-Tooth (CMT) disease type 1 subtype A 12 years ago gradually forced her to change the way she paints her pictures. These days, she uses her mouth to help her hands. Because CMT symptoms, such as joint pain,…

Bionews, the publisher of this website, hosted a virtual panel discussion on Rare Disease Day 2022, taking a deeper dive into what it’s like to live with a rare disease, including conversations about advocacy, mental health, survivor’s guilt, treatment of minority patients, and more. The Monday event, “A…

A rare disease puts an economic burden on the patients, families, and caregivers that it affects, and will no doubt be an integral part of discussions on Rare Disease Day 2022, which brings international awareness about the more than 300 million people living with rare disorders. Part of that…

A rare mutation in the myelin protein zero (MPZ) gene leads to higher-than-normal levels of the MPZ protein and is associated with an intermediate form of Charcot-Marie-Tooth disease (CMT), a study in China shows. Notably, the mutation, affecting four generations of a Chinese family, was present in only one MPZ gene copy,…

The nonprofit RARE-X is creating an easily-accessible, centralized data hub for all rare disease patient data that can help researchers answer questions about existing disorders, discover new ones, and work toward finding treatments. It was spun out of the work that Nicole Boice, founder and chief engagement officer of…

The proteins NCAM1 and GDF15 are present at higher-than-normal levels in the blood of people with Charcot-Marie-Tooth disease (CMT), and in mouse models of the disease, a new study indicates. Scientists think these proteins may be useful biomarkers across types of CMT. The study, “NCAM1 and…