Published on by Invention Awards

Dr. Miguel Angel Alcantara-Ortigoza | Human Molecular Genetics | Best Researcher Award

Academic Researcher in National Institute of Pediatrics, Mexico

Dr. Miguel Angel Alcantara-Ortigoza is a medical scientist with doctoral training in Molecular Biology, specializing in monogenic diseases and congenital malformations. His work at INP contributed to advancing the molecular understanding of inherited disorders, and he currently serves as Director of the Molecular Diagnosis Area at the DNA-GEN SC laboratory, where he has nearly 20 years of experience implementing and supervising molecular diagnostic testing for approximately 15,000 patients across Mexico and Latin America. He collaborates with rehabilitation centers, hospitals, private laboratories, and pharmaceutical companies such as Sanofi-Genzyme and Roche in areas including newborn screening and orphan drug development. With 72 publications, more than 554 citations across 523 documents, and an h-index of 14, he has established a strong scientific footprint in human genetics. His collaborations particularly with Prof. Marcela Vela Amieva’s group have led to pivotal contributions describing the genotypic spectrum underlying inborn metabolic diseases in Mexico. His research group reported the first molecular prenatal diagnosis for a monogenic disease in Mexico and recently proposed a rational diagnostic approach for families affected by orofacial clefts to enhance genetic counseling. His work continues to impact clinical genetics, molecular diagnostics, and the genomic characterization of congenital and metabolic disorders.

Profiles: Scopus | Orcid | Google Scholar | Staff Page

Featured Publications

Alcántara-Ortigoza, M. A., Vela-Amieva, M., González-del Angel, A., Reyna-Fabián, M. E., Fernández-Hernández, L., Estandía-Ortega, B., Guillén-López, S., López-Mejía, L., Ibarra-González, I., & Ruiz-Reyes, M. de la L. (2025). Biparental and androgenetic somatic mosaicism with presentation of non-syndromic severe neonatal hyperinsulinemia. International Journal of Molecular Sciences, 26(16), 7985.

Fernández-Lainez, C., Vela-Amieva, M., Reyna-Fabián, M., Fernández-Hernández, L., Guillén-López, S., López-Mejía, L., Alcántara-Ortigoza, M. Á., González-del Angel, A., Carrillo-Nieto, R. I., & Ortega-Valdez, E. (2024). Isolated methylmalonic acidemia in Mexico: Genotypic spectrum, report of two novel MMUT variants and a possible synergistic heterozygosity effect. Molecular Genetics and Metabolism Reports, 41, 101155.

Vela-Amieva, M., Alcántara-Ortigoza, M. A., González-del Angel, A., Fernández-Hernández, L., Reyna-Fabián, M. E., Estandía-Ortega, B., Guillén-López, S., López-Mejía, L., Belmont-Martínez, L., & Carrillo-Nieto, R. I. (2024). Concordance between biochemical and molecular diagnosis obtained by WES in Mexican patients with inborn errors of intermediary metabolism: Utility for therapeutic management. International Journal of Molecular Sciences, 25(21), 11722.

Alcántara-Ortigoza, M. A., Rodríguez-Lozano, A. L., Estandía-Ortega, B., González-del Angel, A., Díaz-García, L., Rivas-Larrauri, F. E., & Nájera-Velázquez, R. G. (2024). Does the esv3587290 copy number variation in the VANGL1 gene differ as a genetic factor for developing nephritis in Mexican childhood-onset systemic lupus erythematosus patients? Children, 11(6), 712.

Vela-Amieva, M., Alcántara-Ortigoza, M. A., González-del Angel, A., Ibarra-González, I., Fernández-Hernández, L., Guillén-López, S., López-Mejía, L., & Fernández-Lainez, C. (2023). In silico structural protein evaluation of the phenylalanine hydroxylase p.(Tyr77His) variant associated with benign hyperphenylalaninemia as identified through Mexican newborn screening. Children, 10(12), 1865.

González-del Angel, A., Ruiz-Herrera, A., Hernández-Martínez, N. L., Todd-Quiñones, C. G., Durán-McKinster, C., Herrera-Mora, P., & Alcántara-Ortigoza, M. A. (2023). Uncommon large and bilateral fibrous cephalic plaques in a patient with TSC2-related tuberous sclerosis complex. Children, 10(10), 1614.

González-del Angel, A., Alcántara-Ortigoza, M. A., Ramos, S., Algara-Ramírez, C., Hernández-Hernández, M. A., & Saenger-Rivas, L. (2023). Unusual trisomy X phenotype associated with a concurrent heterozygous 16p11.2 deletion: Importance of an integral approach for proper diagnosis. International Journal of Molecular Sciences, 24(19), 14643.

Ashton, C. J., Perveen, R., Beaman, G., Crisponi, G., González-del Angel, A., Garza-Mayén, G., Alcántara-Ortigoza, M. A., O’Sullivan, J., & Clayton-Smith, J. (2022). 3MC syndrome: Molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum. Clinical Dysmorphology, 31(4), 157–165.

Miguel Angel Alcantara-Ortigoza | Human Molecular Genetics | Best Researcher Award

You May Also Like