Health: A Faulty Gene and Lou Gehrig’s Disease

The Story:

Scientists may have made some progress toward an effective treatment of one very aggressive variant of amyotrophic lateral sclerosis (ALS). The treatment would involve targeting a faulty gene known as the FUS (“fused in sarcoma”) gene. The point is not to remove or change this gene but to “silence” it, to block it from sending out messages within each nerve cell that result in the production of certain proteins that prove troublesome.


Researchers first established their ability to silence FUS in lab mice, according to a study published recently in Nature Medicine.  Then they wanted to move expeditiously to the treatment of human beings.

One of the scientists involved in this work is Amelie Gubitz, Ph.D. She said, “There is a desperate need for innovative approaches to treating ALS.”

In 2019 another of the scientists involved in this work, Neil Shneider, M.D., Ph.D., met an individual with ALS in search of therapies that may help her disease. Shneider worked with a pharmaceutical company to develop a personalized therapy. Under a compassionate use protocol reviewed by the U.S. Food and Drug Administration, Dr. Shneider administered the drug to this patient. The results were very positive.

In Pill Form:

Roughly 10% of cases of ALS are familial, due to traceable mutations in genes. Mutations in the gene FUS in particular cause severe forms of ALS, referred to as FUS-ALS. Results of the test on the individual who worked with Dr. Shneider are guiding the continuing clinical tests.


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