Testing a therapy for Duchenne muscular dystrophy in patient stem cells

Human chromosomes showing location of dystrophin gene. Credit: Wessex Reg. Genetics Centre. Wellcome Images

The New York Times has a detailed story today about an experimental therapy for the devastating childhood disease Duchenne muscular dystrophy. The Times story describes the effects of muscular dystrophy:

Duchenne, which affects as many as 15,000 Americans, mainly boys, is the most severe common form of muscular dystrophy, the focus of those Jerry Lewis telethons. There is no good treatment, though steroids help. Boys with Duchenne are typically in wheelchairs by their early teenage years and die from cardiac or respiratory failure in their 20s.

The drugs in development use a technique called exon skipping to essentially trick the cell’s machinery into misreading a genetic mutation. Instead of producing the defective protein responsible for the disease, those cells produce a more functional version of that protein. (Here’s a clever video depicting the process.) Or at least that’s what happens in the lab.  

The problem is that aside from some very compelling anecdotes, it’s not clear how effective the drugs are in people. Trials are still underway, and additional drugs with a related but different function are also in development so it will be a number of years before the verdict is in on this approach.

We’ve funded one of the related approaches in an award to Stanley Nelson at UCLA. There’s a description of his approach to treating muscular dystrophy on our website. He is testing an exon-skipping drug combined with another drug to see if the combination is more effective than the single drug alone.

Nelson and his wife, fellow scientist Carrie Miceli, are testing the drugs in a lab dish using muscle cells derived from stem cells of people with muscular dystrophy. These cells contain the mutation that causes muscular dystrophy and, the team hopes, accurately reflects how human cells would react to their combination of drugs.

The pair describe their approach in this short video:

Our website has a list of all awards we’ve funded that target muscular dystrophy

Amy Adams

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