Principal Investigator | Investigadora, LIIGH, UNAM

Email: cgonzaga[at]
Publications | Publicaciones
ResearchGate | Google Scholar
Twitter: @cgonzagaj & @GonzagajMx

Claudia grew up in Mexico where she did her undergraduate studies in Genomic Sciences at the National Autonomous University of Mexico (UNAM). She obtained her PhD in Molecular and Human Genetics from Baylor College of Medicine, where she contributed to large population genomic studies such as HapMap 3 and pioneered the analyses of genomic sequencing data for the identification of disease genes and molecular diagnoses. Since then her research has focused on the investigation of human pathogenic and polymorphic genomic variation that contributes to human traits and diseases.

Her research focuses on family-based analyses of rare and common genetic disorders to identify pathogenic variation and novel genes associated with disease to better understand the molecular architectures and pathophysiology of genetic disorders. Claudia believes that the application and understanding of human genetics and genomics can lead to improved treatments and the realization of precision genomic medicine. Because the beginning of precision medicine is an accurate genetic diagnosis, Claudia has dedicated great part of her career to the study and identification of novel genes responsible for rare genetic disorders to provide molecular answers to patients with undiagnosed diseases. She has co-authored and co-edited the first text book focused on the application of genomic approaches to the study of rare genetic diseases.

Read more about the release of “Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches” here.

Claudia is also a passionate advocate for science education and literacy. She participates in her “spare time” in educational and science outreach activities such as DNA Day, Skype a Scientist, and ASHG outreach activities to inspire new generations of students to pursue careers in science, especially girls and young female students. Read more about Dr. Gonzaga-Jauregui’s work in science education and outreach here.

La Dra. Claudia Gonzaga Jáuregui es originaria de la Ciudad de México. Estudió la Licenciatura en Ciencias Genómicas (LCG) de la Universidad Nacional Autónoma de México (UNAM). Posteriormente realizó sus estudios de doctorado en Genética Molecular y Humana en el Baylor College of Medicine en Houston, Texas, Estados Unidos donde contribuyó a estudios de variación en poblaciones del mundo a través del proyecto HapMap 3, así como varios otros estudios relacionados a enfermedades Mendelianas. Claudia ha sido pionera en la implementación y análisis de abordajes genómicos para el estudio de enfermedades genéticas, mediante los cuales ha identificado y publicado más de 20 genes asociados a enfermedades raras no identificadas previamente. La Dra. Gonzaga-Jauregui es Investigadora Nacional Nivel I del SNI, CONACYT.

Claudia también participa activamente en actividades de educación y difusión de la ciencia en Estados Unidos y México. Ella es miembro fundador de Más Ciencia Por México, una organización civil enfocada en promover el conocimiento y avance de la ciencia en sus diferentes áreas. También participa en actividades de difusión como el concurso de ensayo con motivo del Día del ADN y da pláticas vocacionales a estudiantes interesados en carreras en ciencias biomédicas.

Publication Highlights | Artículos Científicos de Interés:

  • Giugliani R, Castillo Taucher S, Hafez S, Oliveira JB, Rico-Restrepo M, Rozenfeld P, Zarante I, Gonzaga-Jauregui C. Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America. Front Genet. 2022 Dec; 13:1053559. PMID: 36568372.
  • Novembre J, Stein C, Asgari S, Gonzaga-Jauregui C, Landstrom A, Lemke A, Li J, Mighton C, Taylor M, Tishkoff S. Addressing the challenges of polygenic scores in human genetic research. Am J Hum Genet. 2022; 109(12):2095-2100. PMID: 36459976.
  • Lemke AA, Esplin ED, Goldenberg AJ, Gonzaga-Jauregui C, Hanchard NA, et al. Addressing underrepresentation in genomics research through community engagement. Am J Hum Genet. 2022; 109(9):1563-1571. PMID: 36055208.
  • Kurolap A, Kreuder F, Gonzaga-Jauregui C, Duvdevani MP, Harel T, et al. Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity. Am J Hum Genet. 2022. PMID: 35108495.
  • Salzer-Sheelo L, Fellner A, Orenstein N, Bazak L, Lev-El Halabi N, […], Gonzaga-Jauregui C, Basel-Salmon L. Biallelic truncating variants in the muscular A-type lamin-interacting protein (MLIP) gene cause myopathy with hyperCKemia. Am J Hum Genet. 2022; 109(3):518-532. PMID: 34935254.
  • Lynch MT, Maloney KA, Pollin TI, Streeten EA, Xu H; […], Gonzaga-Jauregui C, Mitchell BD. The burden of pathogenic variants in clinically actionable genes in a founder population. Am J Med Genet A. 2021. PMID: 34467620.
  • Horowitz J, Warner N, Staples J, Crowley E, Gosalia N, […], Muise A, Gonzaga-Jauregui C. Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn’s Disease. Scientific Reports. 2021; 11(1):5595. PMID: 33692434.
  • Nistala H, Dronzek J, Gonzaga-Jauregui C, Chim SM, Rajamani S, et al. NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity. Hum Mol Genet. 2021; 29(21):3516-3531. PMID: 33105479.
  • Gonzaga-Jauregui C, Yesil G, Nistala H, Gezdirici A, Bayram Y, Nannuru KC, […], Lupski JR*. Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide. Eur J Hum Genet. 2020; 28(9):1243-1264. PMID: 32376988.
  • Gonzaga-Jauregui C, Ge W, Staples J, Van Hout C, Yadav A, et al. Clinical and Molecular Prevalence of Lipodystrophy in an Unascertained Large Clinical Care Cohort. Diabetes. 2020; 69(2):249-258. PMID: 31836692.
  • Horn S, Au M, Basel-Salmon L, Bayrak-Toydemir P, Chapin A, Cohen L, Elting MW, Graham JM, Gonzaga-Jauregui C, Konen O, et al. De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures. Brain. 2019; 142(11):3351-3359. PMID: 31504246.
  • Bend R, Cohen L, Carter MT, Lyons MJ, Niyazov D, […], Ferreira CR, Gonzaga-Jauregui C. Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities. Eur J Hum Genet. 2020; 28(1):76-87. PMID: 31395947.
  • Zhu N*, Gonzaga-Jauregui C*, Welch CL*, Ma L, Qi H, King AK, Krishnan U, Rosenzweig EB, Ivy DD, Austin ED, et al. Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults. Circ Genom Precis Med. 2018; 11(4):e001887. PMID: 29631995.
  • Tan TY, Gonzaga-Jauregui C, Bhoj EJ, Strauss KA, Brigatti K, et al. Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions. Am J Hum Genet. 2017; 101(6):985-994. PMID: 29198724.
  • Strauss KA, Gonzaga-Jauregui C, Brigatti KW, Williams KB, King AK, Van Hout C, […], Shuldiner AR, Puffenberger EG. Genomic diagnostics within a medically underserved population: efficacy and implications. Genet Med. 2018; 20(1):31-41. PMID: 28726809.
  • Gonzaga-Jauregui C, Harel T, Gambin T, Kousi M, Griffin LB, Francescatto L, Ozes B, Karaca E, […], Gibbs RA, Lupski JR. Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy, Cell Rep. 2015; 12(7):1169-1183. PMID: 26257172.
  • Gonzaga-Jauregui C, Gamble CN, Yuan B, Penney S, Jhangiani S, Muzny DM, Gibbs RA, Lupski JR, Hecht JT. Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population. Eur J Hum Genet. 2014; 23(3):342-346. PMID: 24986830.
  • Gonzaga-Jauregui C, Lupski JR, Gibbs RA; Human genome sequencing in health and disease, Annual Review of Medicine, 2012; 63:35-61. PMID: 22248320.
  • Lupski, JR, Reid JG,  Gonzaga-Jauregui C, Deiros DR, Chen D, […], Gibbs RA; Whole-Genome Sequencing in a Patient with Charcot-Marie-Tooth Neuropathy, The New England Journal of Medicine, 2010; 362(13):1181-1191. PMID: 20220177.

Full list of publications here | Lista completa de publicaciones aquí.

Interviews and Science Outreach | Entrevistas y Divulgación de la Ciencia: