Hawken Miller, features writer —

When Kenneth Raymond was diagnosed with Charcot-Marie-Tooth (CMT) disease subtype 1A more than 20 years ago, there was little information about the disease that a layman could read and understand. So he set out to remedy that. In 2020, Raymond launched a website called the Cryptid Sloth (now known…

A chance meeting at a conference four years ago led two researchers to join forces and resulted in a CMT1A gene therapy now under development. The 2018 Charcot-Marie-Tooth Association scientific conference was where Scott Harper, PhD, from Nationwide Children’s Hospital in Ohio, met Kleopas A. Kleopa, MD,…

Nonprofits, scientists, governmental organizations, and the rare disease drug development industry have long cited 7,000 as the average number of rare diseases in the world. But a new analysis shows there are as many as 10,867 rare diseases globally. And that…

A Russian military plane crash near Tetiana Zamorska’s home in Kyiv, Ukraine, was a sign that it was time for her and her family to leave. The treacherous, 34-hour pilgrimage that ultimately brought the group of eight by car to temporary accommodations in neighboring Poland last month was physically and emotionally difficult,…

The National Organization for Rare Disorders (NORD) has updated its State Report Card to make it more digitally friendly and added telehealth to its categories of rare disease policy issues in a nod to its increased use during the ongoing COVID-19 pandemic. NORD’s report card project began seven…

It was an unexpected $1 million gift even for Kent and Michele Stahl. Austin Stahl, 28, and sister Hunter Stahl, 27, pose for a photo on a ski trip. (Photo courtesy of Hunter Stahl) The Charcot-Marie-Tooth Research Foundation (CMTRF) was hosting a research convention in September when it…

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…

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…