Making SMARD “take a hike!”

Gus La Casse is climbing mountains to help SMARD research at The Jackson Laboratory

Gus LaCasse
 

Last summer an intrepid group of hikers, led by 11-year-old Gus La Casse, climbed 26 mountains to raise funds and awareness for Spinal muscular atrophy with respiratory distress (SMARD) research at The Jackson Laboratory. 

Inspired by the story of Silas Werner, Gus wanted to help kids with SMARD. His mountain treks, based primarily in Acadia National Park, raised over $9,000 in donations for SMARD research at The Jackson Laboratory. Jackson Laboratory Associate Professor Greg Cox is one of the few genetic scientists in the world committed to better understanding this rare motor neuron degenerative disorder. Due to limited funding, Dr. Cox’s laboratory had only been able to spend 5 percent of its time on SMARD research. But because of additional resources from Climb for Silas, and other SMARD fundraisers, Dr. Cox was able to hire a new researcher. Now, Dr. Prabakaran Soundararajan works full time in the Cox laboratory to understand the biomolecular complexities of SMARD. 

But there is more to do and that is why, this year, Gus will continue to Climb for Silas. And he needs your help.

About Climb for Silas

Most people have never heard of SMARD, and neither had Gus La Casse.

“One day, my mom came home and told me about SMARD and Silas," Gus said. "SMARD is pretty rare, but there are quite a few kids in America and kids all over the world who have SMARD. And nobody has a cure.” 

Silas Werner is a three-year-old Pittsburgh boy diagnosed with SMARD at three months old. Living on a ventilator, Silas requires round-the-clock care. 

“I do a lot of things that involve movement, like hiking and climbing,” says Gus. “I decided to raise money for Silas by doing something he would never be able to do, like go hiking.”

Read more about Silas and his family’s incredible story.

According Dr. Greg Cox, “Because SMARD affects relatively few people, it doesn’t attract the level of research attention it should.  But for the infants and toddlers who are affected, and for the families whose lives are absorbed by dealing with what’s now an always-fatal disease, it’s essential that we learn all we can about SMARD as a means of developing both treatments and cures.”

In 2012, Gus will again climb for SMARD because there is a need to continue to fund the important research that has begun to discover a treatment and cure for SMARD.  Please support Silas and Gus by making a personal donation.  All funds generated from Climb for Silas will be designated solely for SMARD research at The Jackson Laboratory.

Make a gift using our secure online form

You may also make a gift by phone at 1-800-474-9880 or by mailing a check to The Jackson Laboratory, P.O. Box 254, Bar Harbor, ME 04609. Please put “Climb for Silas” in the memo area.

All donations will be designated solely for SMARD research at The Jackson Laboratory.

See list of donors who are helping advance SMARD research

SMARD research at The Jackson Laboratory

SMARD is a life-threatening motor neuron disorder. Symptoms of SMARD are commonly seen within the first six months of life. Because SMARD undermines voluntary muscle function, infants who inherited a defective gene from both parents may be unable to lift their heads or may have other mobility limitations. Their inability to breathe or cough makes them susceptible to pneumonia and other respiratory infections. Children with the disorder stop breathing due to a paralyzed diaphragm and often die in their sleep. As a result, many children with SMARD never see their first birthday.

The Cox Laboratory’s research utilizes a laboratory mouse model of SMARD to explore potential therapies that would modify or neutralize the defective gene that underlies SMARD. 

Drs. Cox and Soundararajan are eager to advance SMARD research by studying motor neurons from mouse stem cells to determine if the disorder can be reproduced in a system that can be directly observed. They hope to expand this work to use cells derived from human skin tissue, which would allow human forms of SMARD to be cultivated in a laboratory setting. This would provide the opportunity to test the efficacy of various genetic modification strategies—work that could make a difference for Silas and change the future for other children with this diagnosis. 

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Eager Eye Photo
Dr. Greg Cox

SMARD research

Dr. Greg Cox is advancing SMARD research, a disease he says is "the rarest of the rare."
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