When you consume protein, your body uses it to maintain your muscles, bone, blood, and organs, and breaks down any excess for energy, a process that creates ammonia as a byproduct.

Ammonia is toxic, but typically your urea cycle – a sequence of metabolic reactions in the liver - efficiently flushes it from your body when you go to the bathroom. However, about one in 30,000 people – including newborn babies – have a disorder that allows an ammonia buildup that can cause vomiting, lethargy, and even coma and death if left untreated. Children born with it often die within a week.

Recently, though, Mark Batshaw, senior investigator in the Center for Genetic Medicine Research at Children’s National Hospital in Washington, D.C., and an international authority on the urea cycle, worked with University of Pennsylvania scientists to develop a combination of gene therapy with gene editing that could increase the survival rate of patients the most common urea cycle disorder.

"Through these therapies, we've turned this fatal disease into a chronic one for most patients," said Batshaw in a February 2020 Children’s National article.

Batshaw, a member of the American Academy of Pediatrics, and the Fight for Children Professor of Pediatrics at the George Washington University School of Medicine and Health Sciences, will discuss his research in a talk titled “Gene Therapy and Liver Transplants for a Birth Defect” at 5:30 p.m. on Thursday, Nov. 4. His talk is part of the 12th season of the Maury Strauss Distinguished Public Lecture Series, hosted by the Fralin Biomedical Research Institute at VTC.

The in-person lecture is free and open to the public at 2 Riverside Circle in Roanoke. However, in-person registration is required as seating is limited due to COVID-19 spacing restrictions. Masks must be worn and in-person attendees are strongly encouraged to attend only if fully vaccinated. The lecture will also be available on Zoom and via live feed on the research institute website.

“Dr. Batshaw’s 40-year career has been devoted to the care of children with disabilities and the process of discovery and innovation to advance pediatric healthcare beyond the current state of the science. He is known internationally for his groundbreaking research on the urea cycle, and is the senior editor for ‘Children with Disabilities,’ the gold-standard textbook on the subject now in its 8th edition,” said Michael Friedlander, executive director of the Fralin Biomedical Research Institute and Virginia Tech’s vice president for health sciences and technology. “Many of our own researchers are dedicated to developing treatments for pediatric disabilities. Dr. Batshaw’s lecture here is a great complement to our work, including our important partnership with Children’s National Hospital. In fact, Dr. Batshaw has been instrumental in the development of a strong partnership between Virginia Tech and the Children’s National Hospital. In his role as that prestigious institution’s chief academic officer, he has led their advance to become one of the nation’s and the world’s premiere children’s hospitals and research centers of excellence.”

In their study, Batshaw and the research team focused on the most common urea cycle disorder, ornithine transcarbamylase deficiency (OTCD). Existing treatments for the disorder include heavy restrictions on protein in the diet and liver transplants.

There are more than 400 genetic mutations that can cause OTCD, so the researchers developed a pair of viral vectors, one to carry an enzyme that creates a targeted break in the mutated DNA, and a second to carry and install a copy of the correct gene sequence. The new gene effectively integrated in cells and expanded in subjects’ livers, producing more of the beneficial enzyme.

Batshaw has been awarded the C. Anderson Aldrich Award for physicians in the field of child development, the Arnold J. Capute Award for service and advocacy for children with disabilities by the American Academy of Pediatrics, and the Arc’s Distinguished Research Award.

He earned a bachelor of arts degree in natural science from the University of Pennsylvania and his medical degree from the University of Chicago’s Pritzker School of Medicine.

Batshaw is a former director of the Children’s National Research Institute and a past president of the American Pediatric Society.

Watch this lecture via Zoom or via live webcast on the Fralin Biomedical Research Institute website.

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