Lina Ghaloul Gonzalez, MD

  • Assistant Professor of Pediatrics

Lina Ghaloul Gonzalez, MD, is an assistant professor of pediatrics in the Division of Genetic and Genomic Medicine with secondary appointment in the Department of Human Genetics at Pitt's Graduate School of Public Health. Ghaloul-Gonzalez, a Syrian/Spanish native, received her degree in Medicine from University of Aleppo School of Medicine in Aleppo, Syria. She received a diploma in investigation after spending 2 years 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 at Buffalo, Buffalo, New York in 2009 and her residency in Medical Genetics and fellowship in Medical Biochemical Genetics at Pitt in 2013. Ghaloul-Gonzalez then completed two years as a postdoctoral research associate and joined the faculty as research assistant professor in 2015. She was promoted to Assistant Professor of Pediatrics in 2019.

During her fellowship, Ghaloul-Gonzalez became interested in the translational aspect of research including implementation of next gene 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. One of the earliest involvements of Dr. Ghaloul-Gonzalez with the Plain community was with the recognition of a unique inborn error of energy metabolism due to MELAS common mutation m.3243 A>G in a young Amish girl. Further characterization of the child’s extended family brought transformative medical care to multiple generations in the community, and directly led to the development of the Children’s Hospital of Pittsburgh Plain Communities Outreach Clinic in Mercer County and the establishment of the Plain Communities Translational Medicine program at UPMC Children’s Hospital of Pittsburgh.

Ghaloul-Gonzalez subsequently has established a research registry project for the Plain community in Western Pennsylvania and begun a next gene sequencing to develop population based genomic risk assessment especially in the individual communities and provide them with better genetic and metabolic care. She participated in several other translational research projects such as implementation of Next gen sequencing in the NICU setting. In addition to these, Dr. Ghaloul-Gonzalez has special interest in understanding pathophysiology of TANGO2 related disorder. 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 for one year from the TANGO2 research foundation in 2020.

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

Professional and Scientific Society Memberships

  • Society for Pediatric Research, 2019-Present 
  • American College of Medical Genetics and Genomics, 2014-2015 
  • Society for Inherited Metabolic Disorders, 2014-Present 
  • American Society of Human Genetics, 2013-Present 
  • 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

Peterson JF, Hartman J, Ghaloul-Gonzalez L, Surti U, Hu J. (2014) Absence of skeletal anomalies in siblings with a maternally inherited 12q13.13-q13.2 microdeletion partially involving the HOXC gene cluster. Am J Med Genet A. Mar;164(3):810-4 

Peterson JF, Ghaloul-Gonzalez L, Madan-Khetarpal S, Hartman J, Surti U, Rajkovic A, Yatsenko SA. (2014) Familial microduplication of 17q23.1–q23.2 involving TBX4 is associated with congenital clubfoot and reduced penetrance in females. Am J Med Genet A. Feb;164A(2):364-9 

Haack TB, Staufner C, Köpke MG, Straub BK, Kölker S, Thiel C, Freisinger P, Baric I, McKiernan PJ, Dikow N, Harting I, Beisse F, Burgard P, Kotzaeridou U, Kühr J, Himbert U, Taylor RW, Distelmaier F, Vockley J, Ghaloul-Gonzalez L, Zschocke J, Kremer LS, Graf E, Schwarzmayr T, Bader DM, Gagneur J, Wieland T, Terrile C, Strom TM, Meitinger T, Hoffmann GF, Prokisch H. (2015) Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy. Am J Hum Genet. Jul 2;97(1):163-9 

Staufner C, Haack TB, Köpke MG, Straub BK, Kölker S, Thiel C, Freisinger P, Baric I, McKiernan PJ, Dikow N, Harting I, Beisse F, Burgard P, Kotzaeridou U, Lenz D, Kühr J, Himbert U, Taylor RW, Distelmaier F, Vockley J, Ghaloul-Gonzalez L, Ozolek JA, Zschocke J, Kuster A, Dick A, Das AM, Wieland T, Terrile C, Strom TM, Meitinger T, Prokisch H, Hoffmann GF. (2016) Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts. J Inherit Metab Dis. Jan;39(1):3-16 


Ghaloul-Gonzalez L, Goldstein A, Walsh Vockley C, Dobrowolski SF, Biery A, Irani A, Ibarra J, Morton DH, Mohsen AW, Vockley J. (2016) Mitochondrial respiratory chain disorders in the Old Order Amish population. Mol Genet Metab. Aug;118(4):296-303 


Dobrowolski SF, Ghaloul-Gonzalez L, Vockley J. (2017) Medium chain acyl-CoA dehydrogenase deficiency in a premature infant. Pediatr Rep. 2017 Nov 21;9(4):7045. 

Bloom K, Mohsen AW, Karunanidhi A, El Demellawy D, Reyes-Múgica M, Wang Y, Ghaloul-Gonzalez L, Otsubo C, Tobita K, Muzumdar R, Gong Z, Tas E, Basu S, Chen J, Bennett M, Hoppel C, Vockley J. (2017) Investigating the link of ACAD10 deficiency to type 2 diabetes mellitus. J Inherit Metab Dis. Jan;41(1):49-57 


Powis Z, Farwell Hagman KD, Speare V, Cain T, Blanco K, Mowlavi LS, Mayerhofer EM, Tilstra D, Vedder T, Hunter JM, Tsang M, Ghaloul-Gonzalez L, Vockley G, Tang S. (2018) Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis characteristics, and time to diagnosis. Genet Med. 2018 Nov;20(11):1468-1471. 

Kernan KF, Ghaloul-Gonzalez L, Shakoory B, Kellum JA, Angus DC, Carcillo JA. (2018) Adults with septic shock and extreme hyperferritinemia exhibit pathogenic immune variation. Genes Immun. 2018 Jul 6. doi: 10.1038/s41435-018-0030-3. [Epub ahead of print] 


Bell S, Rousseau J, Peng H, Aouabed Z, Priam P, Theroux JF, Jefri M, Tanti A, Wu H, Kolobova I, Silviera H, Manzano-Vargas K, Ehresmann S, Hamdan FF, Hettige N, Zhang X, Antonyan L, Nassif C, Ghaloul-Gonzalez L, Sebastian J, Vockley J, Begtrup AG, Wentzensen IM, Crunk A, Nicholls RD, Herman KC, Deignan J, Al-Hertani W, Efthymiou S, Salpietro V, Miyake N, Makita Y, Matsumoto N, Østern R, Houge G, Hafström M, Fassi E, Houlden H, Klein Wassink-Ruiter JS, Nelson D, Goldstein A, Dabir T, van Gils J, Bourgeron T, Delorme R, Cooper GM, Martinez JE, Finnila CR, et al. (2019) Mutations in ACTL6B cause neurodevelopmental deficits and epilepsy and lead to 2 loss of dendrites in human neurons. Am J Hum Genet. 2019 May 2;104(5):815-834 

Full Publication List Via NIH PubMed

Academic and Research Interests

Prevalence of MELAS due to m.3243A>G mutation in the Amish population in different geographic regions. 

Population genomics in Western Pennsylvania Amish population 

Identification of novel genetic disorders in the Plain communities (Amish/Mennonites) 

Research registry for the plain community 

Compare the spectrum of genetic disorders seen in Western Pennsylvania Amish population with Lancaster County 

Natural history study of propionic acidemia in the Amish population 

Understanding the pathophysiology of TANGO2 related disorder 

Genetic variants associated with hyperferritinemic inflammation in patients with septic shock or severe sepsis