Bright star in fight against rare disease

Dr. Barry Byrne has a way with people. While he has a stellar reputation as a world-class physician-scientist who is pioneering the use of gene therapy for debilitating and rare diseases, it is his charismatic and energetic personality that draws people to him for their care or their careers, or to help advance research in rare diseases.

Byrne, who earned his medical degree and PhD from the University of Illinois and completed postdoctoral training and residency at The Johns Hopkins University, arrived at the UF College of Medicine in 1997. He is associate chair of research in the department of pediatrics, the Earl and Christy Powell University Chair in Gene Therapy and Genetics Research, director of the UF Powell Center for Rare Disease Research and Therapy, a professor, father, friend and a warrior in the fight against genetic muscular diseases. He leads the fight by developing treatments to fix the gene abnormalities, deletions and errors that wreak havoc in people’s bodies.

A photo of doctor Barry Byrne, left, in a blue shirt, kneeling next to a young patient in a wheelchair, right, wearing a red shirt.

Barry Byrne and patient Evan Procko

“A rare disease diagnosis significantly impacts patients and their families because many times there is no cure. It’s a challenge that requires the whole family to adapt and learn what it means to live with these diseases,” Byrne said. “Our team focuses on the patient and looks for ways we can improve their life, or maybe find a cure through our research.”

Byrne is one of the world’s leading experts on Pompe disease, a rare inherited genetic disorder that prevents muscles from functioning properly, especially the lungs and heart. He and his multidisciplinary team study and look for promising treatment and therapies in several other genetic diseases such as Duchenne muscular dystrophy, Barth syndrome, Canavan disease and others that affect muscles.

“A rare disease diagnosis significantly impacts patients and their families…”

—Dr. Barry Byrne

Maddie Crowley, a UF undergraduate student, doctor Barry Byrne, and Emma Crowley smiling for a group photo in the stands of The Swamp.

Maddie Crowley, a UF undergraduate student, Barry Byrne, and Emma Crowley, a clinical trial coordinator at the Powell Center for Rare Disease Research and Therapy.

The friendly, talkative pediatric cardiologist and molecular biologist once served as technical adviser during the making of the Harrison Ford movie “Extraordinary Measures” and played an extra in the film, which was based on work by Byrne and colleagues that led to an enzyme replacement therapy for patients with Pompe disease.

In October, the FDA Cellular, Tissue and Gene Therapies Advisory Committee, with Byrne as acting chair, recommended the approval of the gene therapy treatment for blindness, a first for inherited genetic disorders in the U.S. The novel technique was based on groundbreaking research by UF College of Medicine scientists, including Ken Berns, MD, PhD; Nicholas Muzyczka, PhD; and William Hauswirth, PhD, that led to a safe method to deliver therapeutic genes into the body.

“It is very exciting to see discoveries developed into real products that will help people who need them the most,” Byrne said. “That is always the ultimate goal.”

Forging relationships

A key to Byrne’s success is his character. He comes
to work and makes each individual he encounters — whether a patient, parent, staff member or student — feel as though there’s no one else more important to him at that moment. And as he points to a group of framed photos in his office, it’s clear that this loyalty to others drives his relentless pursuit for better therapies.

“These kids are my motivation,” he said.

His impact takes on many facets. Families relocate to Gainesville, high school students choose UF, fellow faculty members travel across the world (sometimes in costume) to visit kids and budding scientists choose to study genetics as their life’s work, with the goal of improving gene therapies.

After Gina and George Fox’s infant son, Phoenix, was diagnosed in 2002 with Pompe disease, the young family moved to Gainesville from the Florida Keys, so Phoenix could receive the care and innovative therapies offered at UF by Byrne and his team.

“We became friends pretty much right out of the gate because of the rareness of Phoenix’s condition, and we could talk to him,” George Fox said of his family’s relationship with Byrne. “To this day, if I have any questions I can text him and he’ll answer me. He’s so knowledgeable about the condition but he’s also so easy to talk to.”

In 2010, sisters Maddie and Emma Crowley, who each had recently been diagnosed with Pompe, traveled with their parents from Philadelphia to Gainesville to find answers to what they only knew as an incurable, degenerative disease that would affect the rest of their lives. In Byrne, the two young girls met someone who would become a lifesaver and a life changer.

Barry Byrne, MD, PhD, dressed as an avatar, and Barbara Smith, PT, PhD, dressed as Darth Vader, visit a patient in Alabama.

“Dr. Byrne is incredibly real and thoughtful,” Crowley said. “He will do all these tests with us as patients and then will go out to dinner with us or just be crazy. One time, on a tour of UF when we were younger, he snuck us onto Florida Field and ran across the field with Maddie.”

Today, Maddie is a UF student and Emma works as a research coordinator in Byrne’s lab.

Barbara Smith, PT, PhD, an assistant professor in the colleges of Medicine and Public Health and Health Professions and a colleague of Byrne’s at the Powell Center for Rare Disease Research and Therapy, often travels with him and no longer thinks twice about donning a Halloween costume and arriving at a patient’s home as “Star Wars” villain Darth Vader, while Byrne dresses up as a character from the film “Avatar.”

Angela McCall, PhD ’17, a recent graduate of the UF College of Medicine biomedical sciences graduate program, attributes her success to Byrne, her mentor, and his ability to not only teach students about genetics and research, but also how to be well-rounded individuals who can offer more than the facts.

McCall and other recent doctoral program graduates mentored by Byrne have gone on to continue their research at institutions like Duke University, the Dana-Farber Cancer Institute and St. Jude Children’s Research Hospital, with the goal of studying and using gene therapies to treat diseases.

“I credit a lot of what I’m doing now to him,” McCall said. “I’m able to do these things because of what he taught and required of his students.”

The FDA approval of a gene therapy treatment in December for people with an inherited eye disease was a significant move, says Byrne, that provides a road map for making other gene therapies available for even more diseases. Approval is “critical to the sustainability” of this treatment method, he said.

“If we have enough evidence that this idea of a replacement gene is safe,” Byrne said, “then we can show it will improve lives and people will adopt that idea.

“I think we’re at the tipping point for that.”

Faculty research seeks cures for cancer and disease

Video by Ketchum

In 2012, Earl and Christy Powell, of Miami, established the Earl and Christy Powell University Chair in Gene Therapy and Genetics Research at UF with a $5 million donation. Held by Barry Byrne, MD, PhD, the endowment has had a significant impact on gene therapy and its translation to patient care. Through endowments, donors create streams of funding that enable faculty to discover solutions to problems we can only now imagine, while paving the road to improved health for our communities. The prestige and recognition of an endowed professorship allows the UF College of Medicine to attract and retain those scientists, physicians and teachers who will carry on that tradition and help us move medicine forward.

The UF College of Medicine looks to raise money $50 million through endowed professorships and chairs during the Go Greater fundraising initiative. Professorships and chairs established during the campaign to date include:

Robert A. Cooper Chair in Orthopaedic Trauma
Barbara Padgett Dein Professorship in Parkinson’s
Carlos E. Donayre, MD, Professorship in Vascular Surgery and Endovascular Therapy
Randolph B. Mahoney Directorship Fund (Endowed School of Physician Assistant Studies Directorship)
James and Brigitte Marino Family Professorship in Cerebrovascular and Endovascular Neurosurgery
Nell W. Potter, MD, Assistant Professorship in Adolescent Medicine
Earl and Christy Powell University Chair in Gene Therapy and Genetics Research
B.J. and Eve Wilder Professorship in Alzheimer’s Disease

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The stories on the following pages offer a glimpse of the power of the generosity of The Gator Nation and how it impacts people’s lives, the education of tomorrow’s leaders and the research that will bring healing to those who suffer.