Pianist/educator/music scholar/Merola faculty member Steven Blier has long been affected by degenerative muscular dystrophy, one among approximately 500,000 people worldwide suffering from a disease triggered by genetic mechanism, without treatment or cure at this time.
Blier will join Frederica von Stade at a fund-raiser for FSHD research on July 24, in Yoshi’s Jazz Club. Facioscapulohumeral muscular dystrophy is the full name of the illness.
The event begins at 6 p.m. with a reception, auction, and dinner, followed by the concert at 8 p.m.
The muscle-wasting disease has confined Blier to a motorized wheelchair, but has spared Blier's ability to play the piano masterfully. “I don’t think there’s anyone who sings or plays an instrument or loves music that doesn’t adore Steve Blier,” says von Stade. “This is a business where there is great and startling talent but he stands taller than anyone.”
The FSH Society, rated highly by Charity Navigator, has spearheaded key breakthroughs in FSHD. The genetic disorder is one of the most common muscle dystrophies. It presents a lifelong progressive loss of all skeletal muscles, typically attacking the muscles of the face (facio), shoulder blades (scapula), and arms (humerus), though it can progress to affect all skeletal muscles. The disease’s age of onset ranges from infancy to adulthood, with symptoms ranging from mildly to severely disabling and life-shortening. Approximately one-quarter to one-third of patients end up in wheelchairs. FSHD affects both sexes and all races and ethnicities equally.
Research launched by the FSH Society led to the discovery in 2010 of the genetic mechanism responsible for 95 percent of cases. A second genetic mutation was identified in 2012, and in 2013, the two genetic factors were found to interact. The disease mechanism involves epigenetic regulation of so-called “junk DNA," and FSHD research is revolutionizing the scientific understanding of gene regulation, with profound implications for human health and disease.