Meet Dr. Shilpa Iyer

Dr. Shilpa Iyer

Meet Dr. Shilpa Iyer, a mitochondrial disease researcher with the University of Arkansas and member of the United Mitochondrial Disease Foundation’s (UMDF) Scientific and Medical Advisory Board.

“The future is very, very bright when it comes to mitochondrial disease science,” said Dr. Iyer. “We’ve come so far. We’re finally at a stage where we can develop diagnostics and therapies.”

That Dr. Iyer is working in the mitochondrial disease space, let alone known as one of the world’s leading researchers for diseases like Leigh syndrome and Leber’s hereditary optic neuropathy, she chalks up to a chance — but life-changing — conversation.

As a PhD student at the University of Georgia, Dr. Iyer’s studies focused largely on telomeres, the caps on chromosomes whose dysfunction are often associated with cancer. Those efforts would eventually land her a postdoctoral research position at the University of Virginia (UVa), where she worked on gene therapy for Parkinson’s. Her then mentor, Dr. James Bennett, suggested she learn more about the connection between mitochondria and telomeres and encouraged her to attend UMDF’s Mitochondrial Medicine Conference.

It was there, at breakfast more than 15 years ago, she found herself sitting next to a young patient living with mitochondrial disease and his parents.

“My heart turned that morning. I wanted to bring a smile to the parents’ faces,” she said.

That introduction became a pivotal moment in her career. She would go on to complete postdoctoral training in mitochondrial genetics at UVa and subsequently serve as a research faculty at the Center for the Study of Biological Complexity at Virginia Commonwealth University. There, she became actively engaged with the mito patient community.

During several patient meetings, advocates asked if she would develop stem cell models. The proposal she crafted in response would make her one of the first recipients of mitochondrial disease research funding from the Department of Defense’s (DOD) Congressionally Directed Medical Research Program. The program had only added mitochondrial disease to its list of priorities the year prior, largely due to UMDF advocacy work on Capitol Hill.

The $1.4 million award from DOD would kickstart an illustrious career in mitochondrial disease research – and the creation of a newly formed Laboratory of Cellular Energetics and Mitochondrial Disorders at the University of Arkansas. All from a happenchance conversation at breakfast.

Dr. Iyer and Milo

At another UMDF Conference, she recalled having a conversation with the mother of a son affected by Leigh syndrome saying, ‘When my son Milo closes his eyes, I’m afraid he might not open them again.’ So I began to think, how can I help Milo? How can I bring this child energy?”

“We started looking for biomarkers across the multi-organ system impacted in mitochondrial disease in order to develop targeted therapies,” she said, that led to another proposal which would bring in millions more in federal funds.

Today, she is known as one of the world’s leading scientists in the mitochondrial disease space, with more than 40 published studies – including eight pieces of research focused on Milo’s disease, Leigh syndrome. With recent funding from the Eunice Kennedy Shriver National Institute of Child Health and Human Development, her work is focused on better understanding the complexities of mitochondrial diseases in different organ systems using stem cell models.

Her work continues today, still as patient-centric as ever. Her office wall is full of photographs of patients she has connected with through the years.

After all this work, what gives her hope for a “bright future?”

“Gene therapy. When you edit the genome, you correct the genetic mutations. When it’s corrected, it can be cured or at least reduce the severity of symptoms,” she said. “The preclinical cell models hold so much promise for patients with primary mitochondrial diseases.”

In 2024, she joined UMDF’s Scientific and Medical Advisory Board.

“It’s exciting,” said Dr. Iyer. “My biggest hope is we can move the field forward. With all the enthusiasm, together we can make a difference.”

We at UMDF agree – together we can make a difference. But we need your support, now more than ever, to keep mitochondrial disease research funding a priority. It’s critical you join us in this fight. We are stronger together.

Your financial gift to UMDF today could very well fund the work that unlocks tomorrow’s treatments and cures.

Thank you for helping fuel the fight.