From 1966 to 2010, Jerry Lewis hosted a national telethon every Labor Day to raise money for children with muscular dystrophy.

I think you have to be of a certain age to remember Jerry’s Kids. I remember growing up with the telethon every year. This was decades before I had even heard of genetic counseling, let alone become a genetic counselor. In fact, I’m not even sure I had a good sense of what muscular dystrophy was at the time.

I later learned that there are multiple forms of muscular dystrophy. Duchenne muscular dystrophy (DMD) is probably the one most people have heard of, since it’s the most common fatal genetic disorder diagnosed in childhood. Found on the X-chromosome, DMD typically affects newborn boys of all races and cultures and is estimated to occur once in every 3,500 live male births, causing about 20,000 annual cases worldwide.

This year, DMD Awareness Week is February 13th to February 19th. Though the telethon has gone by the wayside, Jerry’s kids, i.e. the children who are affected with muscular dystrophy, are still here and still need help.

Thankfully, progress is being made in the treatment of DMD. Three independent research groups recently reported using a groundbreaking gene modification technique known as CRISPR/Cas-9 to locate  the DMD mutation in the muscle cells of mice and replace it with a corrected version of the gene. You can think of CRISPR/Cas-9 as the “find and replace” function in your Microsoft Word document. In addition to this seemingly sci-fi technique, old school clinical research studies are continuing to investigate the potential of drug therapy to see if it may help preserve or improve muscle function.

This DMD Awareness Week, you can take a minute to learn more about the disease, including challenges and advances in treatment, by visiting the Muscular Dystrophy Association.

ShannonWieloch

Shannon Wieloch

Shannon Wieloch is a licensed board-certified genetic counselor at CooperGenomics. Her primary responsibility is to provide genetic counseling to CooperGenomics patients. Other professional roles include managing the genetic content on social media, supervising graduate students, and conducting research.

Prior to joining CooperGenomics, Shannon worked in cardiac research at The Children’s Hospital of Philadelphia and in prenatal genetic counseling at The Delaware Center for Maternal and Fetal Medicine. She received a dual B.S. in biology and psychology from The University of Pittsburgh and her M.S. in genetic counseling from Arcadia University. Her passion is to provide comprehensive genetic education to medical professionals, patients, and the general public. In her free time, she loves to travel, doodle, play board games with her girls, and take too many pictures of her cat.