Lina Ghaloul Gonzalez, MD

  • Assistant Professor of Pediatrics

Lina Ghaloul Gonzalez, MD, is an assistant professor of pediatrics and a Mellon Scholar within the Division of Genetic and Genomic Medicine, with a secondary appointment in the Department of Human Genetics at the Graduate School of Public Health at the University of Pittsburgh. Ghaloul-Gonzalez, a native Syrian/Spanish, earned her medical degree from the University of Aleppo School of Medicine in Aleppo, Syria. Following this, she pursued further studies, obtaining a diploma in investigation after a two-year period in the doctoral program of Molecular Medicine at the School of Medicine, University of Salamanca, Salamanca, Spain in 2002. She completed her Internal Medicine residency at the State University of New York (SUNY) at Buffalo, Buffalo, New York in 2009 and her residency in Medical Genetics and fellowship in Medical Biochemical Genetics at Pitt/UPMC in 2013.

Ghaloul-Gonzalez then completed two years as a postdoctoral research associate before joining the faculty as a research assistant professor in 2015. She was promoted to Assistant Professor of Pediatrics in 2019 and to Assistant Professor in the tenure track in 2022. During her fellowship, Dr. Ghaloul-Gonzalez became interested in the translational aspect of research including implementation of next generation sequencing and bioinformatics analysis in the diagnosis of genetic disorders and the modern approach to medicine. This interest became later more focused on studying the genetic disorders in the Plain community (Amish and Mennonites) in Western PA, the least studied Plain community in the US. She co-founded the Plain people translational medicine program at UPMC with its outreach clinic in Hermitage, PA which provides clinical care and research opportunities to members from the Plain community.

Ghaloul-Gonzalez participated in several other translational research projects such as implementation of Next-gen sequencing in the NICU setting. Additionally, Dr. Ghaloul-Gonzalez has special interest in understanding the pathophysiology of TANGO2 related disorder, a disorder that is seen in the Plain and the general populatino. She has been awarded a National Institutes of Health (NIH) K08 Mentored Clinical Scientist Research Career Development Award under National Human Genome Research Institute (NHGRI) in 2019 for her grant “Precision Genomic Medicine in The Plain Communities and its Impact on The Plain and General Population”. She also has been funded by the TANGO2 research foundation in 2020 and 2022 and was Co-PI or Co-I on several other grants.

Ghaloul-Gonzalez is board-certified in internal medicine, clinical genetics and medical biochemical genetics. She is a member of the society for pediatric research (SPR), Society for Inherited Metabolic Disorders (SIMD), American College of Medical Genetics and Genomics (ACMGG), and the American Society of Human Genetics (ASHG).

Professional and Scientific Society Memberships

  • Association for Glycogen Storage Disease, 2022, 2023
  • Society for Pediatric Research, 2019-Present 
  • American College of Medical Genetics and Genomics, 2014-2015, Present
  • Society for Inherited Metabolic Disorders, 2014-Present 
  • American Society of Human Genetics, 2013-2019
  • American College of Physicians, 2006-2009 
  • American Medical Association, 2006-2009 
  • Medical Association in Syria, 1994-2000 

Education & Training

  • MD, University of Aleppo, 2000
  • Diploma of Investigation (Doctoral Program), University of Salamanca, 2002
  • Internship and Residency, State University of New York at Buffalo, 2009
  • Residency, University of Pittsburgh Medical Center, 2012
  • Fellowship, University of Pittsburgh Medical Center, 2013

Selected Publications

- Kate F. Kernan, Lina Ghaloul-Gonzalez, Jerry Vockley, Janette Lamb, Debborah Hollingshead, Uma Chandran, Rahil Sethi, Hyun-Jung Park, Joseph A. Carcillo, Robert A. Berg, David Wessel, Murray M. Pollack, Kathleen Meert, Mark Hall, Christopher Newth, John C. Lin, Allan Doctor, Tom Shanley, Tim Cornell, Rick E. Harrison, Athena F. Zuppa, Russel Banks, Ron W. Reeder, Richard Holubkov, Daniel A. Notterman, J. Michael Dean,.Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis.  J. Clin Immunol. 2022 Feb;42(2):350-364 

- Paige Heiman,  Al-Walid Mohsen , Anuradha Karunanidhi , Claudette St Croix , Simon Watkins , Erik Koppes , Richard Haas , Jerry Vockley , Lina Ghaloul-Gonzalez.  Mitochondrial dysfunction associated with TANGO2 deficiency. Sci Rep, 2022. 12(1): p. 3045. 

- Michael A. Swanson, Kristen Miller, Sarah P. Young, Suhong Tong, Lina Ghaloul-Gonzalez, Juanita Neira-Fresneda, Lisa Schlichting, Cheryl Peck, Linda Gabel, Marisa W. Friederich, Johan L. K. Van Hove. Cerebrospinal fluid amino acids glycine, serine, and threonine in nonketotic hyperglycinemia. J Inherit Metab Dis. 2022 Jul;45(4):734-747. 

 - Rachel Wolfe*, Paige Heiman*, Olivia D’Annibale, Anuradha Karunanidhi, Alyssa Powers, Marianne Mcguire, Bianca Seminotti, Steven F. Dobrowolski, Miguel Reyes-Múgica, Kathryn S. Torok, Al-Walid Mohsen, Jerry Vockley, Lina Ghaloul-Gonzalez. ITCH deficiency clinical phenotype expansion and mitochondrial dysfunction. Mol Genet Metab Rep. 2022 Oct 29;33:100932. 

 - Sarah Ehrenberg, Catherine Walsh Vockley, Paige Heiman, Zineb Ammous, Olivia Wenger, Jerry Vockley, Lina Ghaloul-Gonzalez. Natural history of propionic acidemia in the Amish population. Mol Genet Metab Rep. 2022 Nov 5;33:100936.doi: 10.1016/j.ymgmr.2022.100936. 

- Christina Y.Miyake, Erica J.Lay, Claudia Soler-Alfonso, Kevin E.Glinton, Kim Houck, Mustafa Tosur, Nancy E.Moran, Sara B. Stephens, Fernando Scaglia, Taylor S. Howard, Jeffrey J. Kim, Tam Dam, Santiago O. Valdes, Na Li, Chaya Murali, Lilei Zhang, Maina Kava, Deane Yim, Cheyenne Beach, Gregory Webster, Leonardo Liberman, Christopher Janson, Prince J. Kannankeril, Samantha Baxter, Moriel Singer-Berk, Jordan Wood, Samuel Mackenzie, Michael Sacher, Lina Ghaloul-Gonzalez, Claudia Pedroza, Shaine A. Morris, Saad A. Ehsan, Mahshid Azamian, Seema R. Lalani. Natural History of TANGO2 Deficiency Disorder: Baseline Assessment of 73 Patients. Genet Med. 2022 Dec. https://doi.org/10.1016/j.gim.2022.11.020 

- Sandkuhler SE, Zhang L, Meisner JK, Ghaloul-Gonzalez L, Beach CM, Harris D, de Lonlay P, Lalani SR, Miyake CY, Mackenzie SJ. B-complex vitamins for patients with TANGO2-deficiency disorder. J Inherit Metab Dis. 2022 Dec 22. doi: 10.1002/jimd.12585.

Marta W Szulik, Miguel Reyes-Mugica, Daniel F Marker, Ana M Gomez, Matthew D Zinn, Leslie K Walsh, Juan Pablo Ochoa, Sarah Franklin *, Lina Ghaloul-Gonzalez *. Identification of two homozygous variants in MYBPC3 and SMYD1 genes associated with severe infantile cardiomyopathy. Genes. 2023 (Accepted; Manuscript ID: genes-2202088)

Full Publication List Via NIH PubMed

Academic and Research Interests

K08HG010490, Precision Genomic Medicine in The Plain Communities and its Impact on The Plain and General Population, 2019-2024. 

Samuel and Emma Winters Foundation, Identification and characterization of TANGO2 protein and its interactions with other proteins, 2023-2024. 

1R01HL161045-01A1, The methyltransferase Smyd1 regulates cardiac physiology, 2023-2025. 

Research Grants

  • Genetics
  • Metabolism
  • Amish and Mennonites (Plain people)
  • Next Generation sequencing
  • TANGO2 related disorder
  • Propionic acidemia
  • Mitochondrial studies