May 27, 2015

Running for SMARD

SMARD stands for spinal muscular atrophy with respiratory distress, a neuromuscular degenerative disease that causes afflicted infants to lose voluntary muscular functions, like breathing and swallowing. The exact number of SMARD cases is unknown because the children often die early in infancy, but there are approximately 1,000 known cases in the world today—making SMARD the rarest of the rare when it comes to genetic disorders.

The rarity is of little comfort for the families affected by SMARD, so they’ve banded together from locations across the globe to make awareness and research for SMARD a reality—bonded by hope for their children’s future. Their fundraising efforts benefit Gregory Cox, Ph.D., associate professor at The Jackson Laboratory, who is one of the few SMARD researchers in the world.


Friends and family members close to those whose lives are affected by SMARD have helped by running for a cure—quite literally.  One group of runners from across the country banded together to run the Philadelphia Marathon twice in as many years to raise funds for SMARD research in honor of Dylan, the son of one of their college friends who lives with the disease.  The “Run for Dylan” raised more than $25,000 over two years.

Another group of runners took the Holy Half Marathon by storm in Indiana, raising more than $35,000 to support SMARD research at JAX in honor of one of their professors and family with a young daughter, Catherine, who is afflicted by the disease.

The outpouring of support for both groups was overwhelming and inspirational for the runners, the families and The Jackson Laboratory.  Kara Cronin who led the charge for the Holy Half Marathon said, “The combination of running the race and fundraising as much as we did has been one of the biggest and proudest accomplishments of my life! I am over the moon.”

Dr. Greg Cox is over the moon, too.  He will use 100 percent of the funds raised to further his research. 

Dr. Cox’s lab at JAX originally discovered the gene causing SMARD in its laboratory mice, which develop the same disease seen in patients like Catherine and Dylan. He and his team are working to understand what the normal function of this gene is through cell and molecular biology experiments so that they can better design therapies to replace the missing functions in motor neurons.  Through their research they have found that modifier genes exist in some mice and these genes can suppress the severity of disease. Dr. Cox’s team is trying very hard to determine what these genes are and how they can alter the disease with the hope that they will provide the targets needed to develop therapies for patients.

At the same time, Dr. Cox is developing motor neuron cultures from cells carrying SMARD mutations so that he can study the disease in a dish. This will provide his team with a powerful strategy for designing screens for potential drug development.