Early Career Neurogeneticist Receives 2020 Burroughs Wellcome Fund Award

Xilma Ortiz-Gonzalez, MD, PhD, recipient of the Burroughs Wellcome Fund Career Award in Medical Sciences

mccannn [at] email.chop.edu (By Nancy McCann)

Early career investigators, like Xilma Ortiz-Gonzalez, MD, PhD, a 2020 recipient of the competitive Burroughs Wellcome Fund Career Awards in Medical Sciences (CAMS), are building on Children’s Hospital of Philadelphia Research Institute’s history of bold research breakthroughs.

The CAMS grant program supports early career physician-scientists as they delve into promising basic biomedical, disease-oriented, or translational research. Along with the $700,000 five-year grant to help bridge the gap between postdoctoral and fellowship training with early faculty position years, recipients benefit from biennial meetings and mentoring networks, providing young scientists with vital career advice.

Dr. Ortiz-Gonzalez is an attending physician at CHOP and assistant professor of Neurology and Pediatrics at the Perelman School of Medicine in the University of Pennsylvania. As a neurogeneticist, Dr. Ortiz-Gonzalez is interested in how mitochondrial dysfunction may lead to neurodegeneration in children affected with rare disorders. Her clinical work led to the co-discovery of TBCK syndrome caused by mutations in the TBC1 domain-containing kinase (TBCK) gene.

“I believe connecting the pieces of the puzzle in this rare disorder may not only help us develop better treatments for TBCK syndrome, but may also be informative to understand the molecular pathways that lead to brain degeneration in other disorders,” Dr. Ortiz-Gonzalez said.

Her CAM grant project “Looking at Neurodegenerative Disorders Through a Pediatric Lens” will examine the question: Why do some children with mutations in the gene TBCK worsen neurologically over time while others do not?

“We are used to genetic diseases having some variability, but the range of clinical symptoms in patients with TBCK is remarkable,” Dr. Ortiz-Gonzalez said. “Despite being delayed, some children, walk, talk, and have autistic features; other children are so weak they are barely able to hold their head up or learn to sit. We want to know, at a cellular level, the effects that TBCK mutations have, and, in particular, learn what changes are distinct in mild compared to severe patients.”

The Burroughs Wellcome Fund Award not only offers her research program substantial financial support, but it also allows Dr. Ortiz-Gonzalez to expand her research team and provides the opportunity to test innovative, “out of the box ideas that could be hard to fund otherwise,” she said.

“This award is certainly an honor and a great boost to my career as a physician-scientist,” Dr. Ortiz-Gonzalez continued. “I feel very fortunate I get the resources to work in something I’m very passionate about. I look forward to finally having my own research program and laboratory space after training and having to prove myself, at different stages of my career, for over two decades.”

Dr. Ortiz-Gonzalez is in good company as CHOP physician-scientists Sarah Henrickson, MD, PhD, and Elizabeth Bhoj, MD, PhD, a co-discoverer of TBCK syndrome, were 2018 recipients of the BWF CAMS award.