$20,000 Grant Will Help Unveil How Certain Mutations Fuel CMT

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by Patricia Inácio, PhD |

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Scientist Timothy Hines, PhD, was awarded a grant of $20,000 to establish cell models to study Charcot-Marie-Tooth (CMT) disease at the recent live-streamed Young Investigator Draft ceremony.

The grant, co-funded by Uplifting Athletes and the CMT Association (CMTA), will help Hines to use human cells to further identify how mutations in genes coding for aminoacyl-tRNA synthetases (aaRSs) drive CMT.

This may help find new therapeutic strategies, according to a CMTA press release.

Hines, whose postdoctoral research has focused on investigating the cellular and biochemical mechanisms underlying CMT, is developing his research project at the Jackson Laboratory, a nonprofit global biomedical research institution based in Maine.

aaRSs, also called tRNA ligases, are involved in protein assembly by binding molecules called transfer RNAs (tRNAs) to their respective amino acids — the building blocks of proteins. They are the largest protein family implicated in CMT. However, how mutations in the aaRSs genes lead to CMT is still poorly understood.

Uplifting Athletes is a non-profit organization that seeks to raise awareness and funding for rare diseases by engaging student and professional athletes. It co-funded the grant with the CMTA via its Strategy to Accelerate Research (STAR) initiative.

NFL player John Lovett, who most recently played with the Green Bay Packers football team, presented the award at the Young Investigator Draft ceremony, held virtually and streamed live across Uplifting Athletes’ social media channels. It was presented by CSL Behring. The ceremony is available for viewing here.

“CSL Behring is proud to continue supporting this unique program that builds enthusiasm for the next generation of biotech leaders and the promise of their research,” Kevin Kovaleski, vice president of global commercial development and transplant at CSL Behring, said in another press release.

Another six researchers, all working on rare diseases, also were awarded a grant, with a total amount of $140,000.

“Our Young Investigator Draft shines a spotlight on the critical need for rare disease research and honors researchers who are making an impact,” said Rob Long, executive director of Uplifting Athletes.

“We believe these all-star scientists deserve to be lauded with the same excitement and fanfare afforded to college and professional athletes, many of whom partner closely with us to leverage their own platforms to support our mission,” he added.

The research projects, each nominated by a patient advocacy organization (PAO) recognized by Uplifting Athletes as a key partner for this year’s draft, were evaluated by an expert panel of scientific advisors. The winning projects, selected after a two-step evaluation process, were equally co-funded by Uplifting Athletes and the nominating PAO.

Long, who played college football at Syracuse University and was slated to be the top punter in the 2010 NFL Draft Class, was then diagnosed with a rare and aggressive brain tumor, called anaplastic astrocytoma. He became passionately committed to helping others with rare diseases.

“During my own journey, I became keenly aware of the heroes going to battle for me―the rare disease researchers working tirelessly to save my life and the lives of others,” Long said.

“I learned that rare disease research is extremely limited due to the lack of financial incentive to develop and market new treatments for small populations. Uplifting Athletes is proud to help fund critically needed research for the 30 million Americans living with a rare disease. And we’re excited to welcome to the team these seven brilliant young scientists who comprise our 2021 Draft Class,” he added.