UMPC Children’s Hospital of Pittsburgh
Dr. Lina Ghaloul-Gonzalez is an Assistant Professor of Pediatrics and Mellon Scholar in the Division of Genetic and Genomic Medicine at UPMC Children’s Hospital of Pittsburgh, with a secondary appointment in the Department of Human Genetics at the University of Pittsburgh School of Public Health.
A native of Syria and Spain, Dr. Gonzalez earned her medical degree from the University of Aleppo School of Medicine in Syria. She completed her Internal Medicine residency at the State University of New York (SUNY) at Buffalo in 2009, followed by residency in Medical Genetics and fellowship in Medical Biochemical Genetics at UPMC/University of Pittsburgh in 2013. She is board-certified in Internal Medicine, Clinical Genetics, and Medical Biochemical Genetics.
Dr. Gonzalez is a physician-scientist passionate about genomics and translational research. She co-founded the Plain Community Translational Medicine Program at UPMC to identify novel genetic disorders in the Amish and Mennonite populations of western Pennsylvania, one of the least studied Plain communites in the US, and to translate these findings to broader populations. She has led multiple research efforts identifying novel genetic conditions in this community, including a natural history study of propionic acidemia (PA) in the Amish due to the homozygous PCCB variant c.1606A>G (p.Asn536Asp). Her findings challenge the assumption that PA is mild in this population, demonstrating that these individuals are at high risk for cardiomyopathy and other severe complications over time highlighting the need for close monitoring and treatment.
More recently, she has been involved in provider education in Ecuador, supporting clinicians caring for patients with organic acidemias. She is particularly interested in the variable clinical spectrum of propionic acidemia, ranging from severe presentations commonly seen in the U.S., to more moderate cases in Ecuador, to presentations in the Amish community characterized primarily by cardiomyopathy rather than metabolic acidosis.
Dr. Gonzalez also leads research on the pathophysiology of TANGO2 Deficiency Disorder and serves on the clinical and research advisory committees for the TANGO2 Research Foundation. She has mentored students from diverse backgrounds in clinical, basic, and translational research.