Investigator: Ali Ozes PhD
Category: Research - Translational
Facioscapulohumeral dystrophy (FSHD) is a progressive disease commonly associated with loss of muscle in the face, scapula and humerus. FSHD affects 500,000 people worldwide and is incurable. Sadly, additional symptoms have also been associated with progressive disease that include vision changes, loss of hearing and abnormal heart rhythms. FSHD effects both men and women where symptoms manifest by the age of 20 and progressively get worse. Therefore, any treatment option that slows the progression of disease would be significant by giving patients a better quality of life.
The causes of FSHD are still largely unknown, however, recent findings show that a protein called Double Homeobox 4 (DUX4) may play a significant role. It was recently discovered that expression of DUX4 in FSHD patients causes muscle cells to die overtime. Studies in human cells and in mice show that blocking DUX4 can stop further muscle death and could be a way to treat FSHD. However, there are currently no known drugs that bind DUX4 specifically.
At Altay, we developed an approach that can find drugs that block proteins like DUX4. We have used our platform in the past to find drugs for similar proteins with great success. The aim of our research is to find drugs that bind and inhibit the function of DUX4 to prevent further muscle breakdown in FSHD patients. The successful completion of our study will result in the first treatment for patients suffering from FSHD.
Dr. Sverdrup will use his lab's FSHD background to evaluate the ability of test compounds to reduce DUX4 and DUX4 targets in differentiating FSHD myocytes. If successful, they will further test in vitro rescuing cells from DUX4-induced toxicity.