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 and COVID-19
As communities everywhere take steps to reduce transmission of COVID-19, we would like to share some information provided by our panel of medical advisors. For most individuals with FSHD, the risk of serious illness from COVID-19 infection is the same as the general population. The CDC and MDA websites provide detailed information about who is… Read More »
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 »
Voice of the Patient Forum [VIDEO]
Recorded on January 20, this informational video discusses the upcoming Voice of the Patient Forum (or patient-focused drug development meeting) for facioscapulohumeral muscular dystrophy (FSHD) that is being organized by the FSHD Society for April 21. James Valentine explains the role of the patient’s voice in the FDA‘s consideration of drug approval applications. June Kinoshita… Read More »
FAQs about genetic testing for FSHD
Julie Cohen, ScM, genetic counselor in the Center for Genetic Muscle Disorders at the Kennedy Krieger Institute in Baltimore, Maryland, answers some commonly asked questions. Q. What is the genetic cause of FSHD? Let me begin by saying that the genetics of FSHD is quite complex! There are two types of FSHD, called Type 1… Read More »