Jeffrey Statland, M.D., professor of neurology at the University of Kansas Medical Center, is an internationally recognized expert in facioscapulohumeral muscular dystrophy (FSHD) and serves as co-director of the FSHD Clinical Trial Research Network.

Heloise Hoffmann, an eighteen-year-old, is a few weeks shy of graduating from high school. She is already well on her way to fulfilling her dream of becoming a boundary-breaking physician and researcher dedicated to treating and finding cures for FSHD and other rare diseases.

Statland and Hoffmann recently teamed up as mentor and mentee, leading to Hoffmann finishing as one of 40 finalists for the 2022 Regeneron Science Talent Search (STS), the nation’s oldest science and math competition for high school seniors and a program of the Society for Science. Finalists were chosen from 1,805 entries based on their projects’ scientific rigor and their potential to become world-changing scientists and leaders.

Unique accomplishment
“This is really a remarkable achievement for someone at Heloise’s level of training,” said Statland, who credited Hoffmann for successfully navigating the entire research process, including devising a research question, shepherding the protocol through an ethics review, conducting a national survey, presenting the results at a national conference, and submitting an article for publication.

Hoffmann’s project, “Self-Reported Reduced Sleep Quality and Excessive Daytime Sleepiness in Facioscapulohumeral Muscular Dystrophy,” is the largest study to date looking at sleep characteristics in people with FSHD. It was designed to discover the prevalence of self-reported lowered sleep quality and excessive daytime sleepiness in a large, representative group of people with FSHD and to associate these characteristics with external factors.

Statland provided Hoffmann with guidance on the design of her survey, identifying other important questions to ask, analyzing her results, and thinking about how they relate to FSHD. He also helped her think through potential future directions for her study and results, assisted her in preparing a scientific paper that is currently under review by an academic journal, and connected her with sleep specialists to help mentor her and provide feedback.

A humbling opportunity
Hoffmann’s interest in FSHD is deeply personal. She was diagnosed with FSHD at age 13. Even though she was too young to participate in ongoing clinical trials, she wanted to contribute to the research. As part of a college-level research course, she decided to investigate an under-researched aspect of FSHD. After contacting clinicians to discover possible topics and reviewing existing literature, she settled on focusing on sleep and FSHD.

“I’m so humbled to have had the opportunity to contribute to the research surrounding the muscle disorder that affects me,” Hoffmann said. “The skills and knowledge I have acquired during this process will undoubtedly guide me as I continue researching in the future.”

The senior at Community School of Naples, in Naples, Florida, found Statland through the FSHD Society, the national FSHD advocacy group, which helped connect them. In addition to helping her gain a different perspective on the research process and exposing her to real-world research standards, Hoffmann said collaborating with Statland helped her develop a higher level of rigor and reasoning that will benefit her future academic and personal endeavors.

“Most of all, I learned the importance of reaching out to experts during the research process,” she said.

Wisdom for aspiring researchers
It’s a message Statland encouraged other young, aspiring researchers to embrace – don’t be shy and don’t let barriers to conducting research stand in your way.

“Rigorous research methodology is almost more important than the results as those are the tools which will last you the rest of your career, and as a mentor told me when I was younger, there is no greater gift in life than work you love,” he said.

Hoffmann plans to major in neuroscience in college. Ultimately, she aspires to become a pediatric neurologist so she can help diagnose and treat children with rare disorders.

Prestigious competition
Since the competition was launched in 1942, many Science Talent Search alumni have gone on to have world-changing careers in STEM fields. STS alumni include recipients of the world’s highest science and math honors, including 13 Nobel Prizes, 11 National Medals of Science, six Breakthrough Prizes, 22 MacArthur Foundation Fellowships, and two Fields Medals.

The 40 finalists for the 2022 Regeneron STS were selected from the top 300 scholars, chosen from the pool of 1,805 entries and announced by the competition on Jan. 6.

The 40 finalists participated in a final round of competition March 9-16 in Washington, D.C., where they faced additional rigorous judging to determine the top 10 winners. Finalists also engaged with leading scientists and shared their research during a virtual “Public Day” event. The competition distributed $1.8 million in prize money during the final round, including awards ranging from $40,000 to $250,000 to the top 10 winners and $25,000 to all other finalists, including Hoffman.

“The title of Regeneron Science Talent Search Scholar is so humbling because it not only confirms my love for STEM and research, but it also recognizes the work I did to contribute to the research surrounding my own disorder,” Hoffmann said. “This award propels me forward on my quest to defeat FSHD.”