Strengthening Muscle Science and Community

April 28, 2016
Strengthening Muscle Science and Community
Photo compliments of Irina Cashen

Two postdocs raise awareness and create a community for neuromuscular disease patients, family members, and academic and industry scientists. 

For the first two years of his life, Tayjus Surampudi seemed like any other child. But by the time he turned three, he told an audience of 500 in a Science Center auditorium on Sunday, his parents noticed something wasn’t right — Tayjus stumbled frequently, couldn’t keep up with his friends, and had enlarged calf muscles.

Ironically, he said, some of his parents’ friends thought his enlarged calves destined him for life as a football player, rather than confinement to the wheel chair in which he sat speaking to his audience of family members of patients with neuromuscular diseases, patients, scientists, and members of the corporate biomedical community gathered for Strength, Science, and Stories of Inspiration’s  (SSSI) 3rd Annual Benefit Event.  

The initiative was created and nurtured by two Harvard Stem Cell Institute postdoctoral fellows, and an MIT postdoc who have family members who struggle with neuromuscular conditions.

“We started this event with us three telling our stories to our friends and colleagues, but now we are telling them to the public, and our local community. This event just gets bigger each and every year,” said Albert Almada, a post doctoral fellow working on neuromuscular diseases in the lab of HSCI Principal Faculty Member Amy Wagers, PhD. Almada, along with Wagers post doc Mohammadsharif Tabebordbar, and MIT postdoc Eric Wang, now a professor at the University of Florida, are the co-founders of SSSI.

Speakers at the event included Shane Burcaw, a blogger living with spinal muscular atrophy; comedian Max Amini, a Comedy Central regular whose father had suffered from amyotrophic lateral sclerosis (ALS); and Surampudi, a Harvard College sophomore living with Duchenne muscular dystrophy (DMD). 

SSSI is now supported by numerous organizations, including the Muscular Dystrophy Association, which will match up to $20,000 of the funds raised from the Sunday event and from ongoing fundraising efforts to support a much-needed fellowship for postdoctoral researchers studying neuromuscular diseases.

“My story is unique. I have only been able to study and live independently at Harvard because I had access to cutting edge patient care, medications, and have benefited by very recent advancements in science, that previous generations of DMD patients did not have access to,” said Surampudi, who was finally diagnosed with DMD six months after his parents became concerned by his ambulatory difficulties.  “I simply could not have made it to Harvard if it were not for these rapid developments in science and technology.”

 Although clinical trials for DMD are currently ongoing, an effective long-term therapy for the disease appears to be years away. 

“I think the challenges to developing a therapy for muscular dystrophies are both fundamental in terms of growing our understanding of muscle biology as well as practical in term of how to best deliver a therapy to muscles and muscle stem cells,” said Amy Wagers, PhD, Forst Family Professor of Stem Cell and Regenerative Biology.

In January, Wagers and Tabebordbar reported in the journal Science that they had used a gene-editing technology called CRISPR-Cas9 to fix the Duchenne muscular dystrophy mutation in skeletal muscle, skeletal muscle stem cells, and cardiac muscle. 

Almada, a molecular biologist in Wager’s lab, is taking a different approach; rather than a gene-therapy, Almada is trying to understand the basic mechanisms of muscle regeneration.

“We have many new promising avenues to pursue, but we are not certain which avenues will lead to an effective cure— we have to go in as many directions as possible and hope they collide,” Almada said.

HSCRB scientists have also made progress with other neuromuscular diseases, including SMA and ALS. Professor Lee Rubin, PhD, determined the disease mechanism for SMA, and Professor Kevin Eggan, PhD, found retigabine, an anti-epileptic drug, calms over-excited neurons affected by ALS. Clinical trials testing retigabine’s affects have already begun in ALS clinics around the nation.