News

Increased Education Crucial to Improving Rare Disease Care, Survey Finds

Healthcare providers involved in diagnosing and treating rare diseases believe that increased physician education and collaboration with specialized facilities will have the greatest positive impact on treating these conditions over the next five years, according to results from a 2021 survey. Definitive Healthcare, a healthcare commercial intelligence company, conducted…

Neuropathic Pain Can Be Evident Across Various Types of CMT

Neuropathic pain, related to damage or impairment in nerve receptors that detect pain and heat, is most common in CMT1A patients but can be found in people with different types of Charcot–Marie Tooth (CMT) disease, a study found. Abnormal electrical signals along nerve fibers in response to heat generated…

Country Star Alan Jackson to Raise Funds for CMT Research

The CMT Research Foundation is teaming up with Alan Jackson’s “Last Call: One More for the Road Tour” to raise funds that will go toward discovering treatments for Charcot-Marie-Tooth disease (CMT). For every sold ticket, $1 will be donated to the CMT Research Foundation. A group of supporters…

Rare Respiratory Complications Found in Man With CMT2A

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…

#RAREis Representation Program Promotes Equity, Diversity

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…

Rare Disease Day Panel Opens Window to Patient Experience

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…