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

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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.

Serena Travaglini | Genetics and Molecular Biology | Best Researcher Award

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Dr. Serena Travaglini | Genetics and Molecular Biology | Best Researcher Award

Dr. Serena Travaglini | University of Rome Tor Vergata  | Italy

Dr. Serena Travaglini is a dedicated molecular biologist and researcher at the University of Rome “Tor Vergata” specializing in the characterization of leukemia stem cells. Born in Rome, she advanced through a strong academic trajectory in biotechnology, earning bachelor’s, master’s, and doctoral degrees from Tor Vergata University. She conducted her doctoral research under leading mentors, focusing on FLT3-ITD-mutated acute myeloid leukemia, identifying novel therapeutic targets. After completing her doctorate, she deepened her expertise in postdoctoral studies exploring CD99 as a therapeutic marker and the transcriptomic evolution of AML. Currently, she leads investigations into the role of p63 in thymoma within the Laboratory of Biochemistry and Molecular Biology. With a solid foundation in molecular biotechnology and translational medicine, Dr. Travaglini exemplifies excellence in both research innovation and academic leadership.

Profiles

Scopus
Orcid

Education and Experience

Dr. Travaglini’s academic journey reflects sustained dedication to biotechnology and translational medicine. She graduated in biotechnology and advanced to earn a master’s in medical biotechnology, followed by a PhD in biotechnology and translational medicine, all at Tor Vergata University. Her early research explored oxidative stress in neurodegenerative diseases and the molecular interplay in APL. During her doctoral studies, she investigated FLT3-ITD-mutated leukemia stem cells, pursuing actionable targets to impede relapse. Her postdoctoral work further expanded her expertise by analyzing CD99’s role in leukemic progenitor cell behavior and homing. As a researcher, she now explores p63’s involvement in thymoma, integrating molecular insights with translational goals. Her progression reflects a consistent focus on dissecting leukemic pathophysiology to inform therapeutic strategies.

Research Interests

Dr. Travaglini’s research spans the genetic and cellular characterization of leukemia, with a distinctive focus on leukemia stem cells and clonal evolution. She is deeply interested in validating genetic biomarkers in AML and APL, exploring therapeutic vulnerabilities, and understanding resistance in arsenic-trioxide-treated APL. Her work includes analysis of surface immunophenotypes including CD99, CD34, and CD123, and characterizing t(11;17)-positive AMLs. She also investigates therapy-related AML and how genetic changes drive disease progression. Her broader goals emphasize leveraging multiparameter flow cytometry, genetics, and in vivo modeling to inform precision medicine strategies that combat recurrence and treatment resistance.

Awards & Recognition

Dr. Travaglini is the recipient of notable recognitions for her contributions to life sciences research. She received the Angeletti-Mortari Life Sciences Research Prize from MSD Italia—an award honoring innovation by emerging researchers and supporting their work in scientific excellence within Italy. She also won the “AIL Beat Leukemia” Fellowship awarded by the Italian Society of Experimental Hematology, which advanced her project investigating the molecular landscape of high-risk acute promyelocytic leukemia and strategies to overcome disease progression beat-leukemia.org. These honors reflect her impactful contributions to leukemia research and her promise as a leading young scientist.

Publications Top Notes

Functional characterization and response to FLT3 inhibitors in acute myeloid leukaemia with a non‐canonical FLT3 mutation: A proof of concept

Journal: British Journal of Haematology
Authors: Serena Travaglini, Carmelo Gurnari, Silvia Antonelli, Francesco Marchesi, Gioia De Angelis, Tiziana Ottone, Mariadomenica Divona, Antonio Cristiano, Hajro Hajrullaj, Andrea Mengarelli, et al.

Ascorbate Plus Buformin in AML: A Metabolic Targeted Treatment

Journal:  Cancers 
Authors: Cristina Banella, Gianfranco Catalano, Serena Travaglini, Elvira Pelosi, Tiziana Ottone, Alessandra Zaza, Gisella Guerrera, Daniela Francesca Angelini, Pasquale Niscola, Mariadomenica Divona, et al.

From Clonal Hematopoiesis to Therapy-Related Myeloid Neoplasms: The Silent Way of Cancer Progression

Journal: Biology 
Authors: Carmelo Gurnari, Emiliano Fabiani, Giulia Falconi, Serena Travaglini, Tiziana Ottone, Antonio Cristiano, Maria Teresa Voso.

PML/RARa Interferes with NRF2 Transcriptional Activity Increasing the Sensitivity to Ascorbate of Acute Promyelocytic Leukemia Cells

Journal: Cancers 
Authors: Cristina Banella, Gianfranco Catalano, Serena Travaglini, Mariadomenica Divona, Silvia Masciarelli, Gisella Guerrera, Francesco Fazi, Francesco Lo-Coco, Maria Teresa Voso, Nelida Ines Noguera.

Conclusion

Dr. Serena Travaglini stands as a distinguished emerging researcher in molecular hematology, demonstrating both scientific rigor and translational vision. Her academic excellence, from her foundational training through her innovative postdoctoral and current work, underscores her commitment to unraveling the biological mechanisms underpinning leukemia and resistance. Her strategically focused research on leukemia stem cells, therapeutic biomarker validation, and overcoming drug-resistant APL speaks to her potential to influence next-generation leukemia therapies. Recognition through prestigious awards and notable scholarly contributions further affirm her candidacy. With continued support, Dr. Travaglini is poised to lead impactful research initiatives that can reshape treatment paradigms in acute leukemia and precision medicine.