Dr. Peter Jones and Dr. Takako Jones (at the University of Nevada) are conducting a research project to improve facioscapulohumeral muscular dystrophy (FSHD) diagnostics and to better understand the genetics and epigenetics of FSHD.
Current genetic testing for FSHD, where available, is a complicated, expensive process that requires a visit to a health care professional for a blood draw and often a referral. The Jones lab is investigating the utility of an alternative FSHD diagnostic approach that will be private, affordable and accessible to everyone worldwide.
They developed an inexpensive technique capable of identifying epigenetic characteristics distinctly associated with FSHD1 and FSHD2 using DNA found in saliva.
Participants can choose to have their research results returned to them and will learn about their individual epigenetics and some genetics for their own FSHD region, and if they correlate with FSHD1, FSHD2, or neither. Those who do not wish to see their research results still will be helping develop this new technology for eventual diagnostic purposes.
Anyone with a confirmed genetic diagnosis of FSHD, a clinical diagnosis of FSHD, a suspicion of FSHD, or at risk for FSHD by being in a family with FSHD. You do not have to have a diagnosis of FSHD or have prior genetic testing for FSHD. In addition, we are seeking healthy family members.
https://myfshd.org/test-for-fshd/