There are exciting new developments in FSHD genetic testing. A new genetic test for FSHD is now being offered by PerkinElmer Genomics, a global company known for scientific and medical testing services. Other companies and groups are likely to follow suit. This is the first major innovation in FSHD genetic testing in nearly three decades… Read More »
Genetic testing for FSHD—a new frontier
FSHD Connect is a game changer
by Jennifer Egert, PhD, New York City After being involved with the FSHD Society for more than 10 years, participating in fundraisers, social media, and events, I finally made it to the FSHD Connect meeting in 2018 in Las Vegas. It’s sort of ridiculous that I hadn’t gone until then, especially when the Society is… Read More »
FSHD and Rare Disease Day
Celebrate Rare Disease Day on February 29th! Rare Disease Day takes place annually on the last day of February, a month known for having a rare number of days. On February 29th, people around the world will gather to increase knowledge about rare diseases and how they impact patients’ lives. Rare Disease Day promotes awareness… Read More »
Which symptoms have the biggest impact on your life?
On April 21, the FSHD Society is convening its landmark Voice of the Patient Forum, our community’s opportunity to testify to the FDA on the impact FSHD. An important question to answer is, which symptoms have the biggest impact on your life? Your testimony will result in a Voice of the Patient Report that will… Read More »
Losmapimod receives orphan drug designation
Fulcrum Therapeutics has announced that losmapimod has received orphan drug designation from the U.S. Food and Drug Administration. Losmapimod is currently in a Phase 2 clinical trial for facioscapulohumeral muscular dystrophy (FSHD). The drug qualified for this status because FSHD, with an estimated 20-40,000 affected individuals in the U.S., is considered a rare disease. (The… Read More »