.jpg "Rosalia Santillán Martínez, Sr., B.Sc. photo")
Senior Bioinformatics Scientist and Molecular Biologist
Genos Médica, Centro Especializado en Genética
Senior bioinformatics scientist and molecular biologist at Genos Medica, with over twelve years of experience in genomics and next-generation sequencing technologies, specializing in Precision Medicine. She currently leads the Molecular Biology Laboratory, where she develops, validates, and optimizes a wide range of genetic diagnosis applications based on NGS and molecular biology techniques. Her expertise includes the analysis and interpretation of genetic studies using NGS, Sanger sequencing, MLPA, TP-PCR, and qPCR, as well as the classification of SNV and CNV variants according to international standards such as ACMG/AMP, CLSI, ESMO and ISCN. She is a member of the Asociación Mexicana de Genética Humana (AMGH), the American Society of Human Genetics (ASHG), and the Association for Molecular Pathology (AMP). Her scientific interests focus on the study of genetic diseases in the Mexican population, and she actively participates in conferences and publications, including contributions to Frontiers in Genetics and presentations at AMP Europe, AMGH, and ASHG. Her experience encompasses all clinical applications of molecular technologies in germline, somatic, and cell-free circulating DNA tests. Her current work aims to improve access to genomic medicine, with an emphasis on whole exome and genome sequencing and molecular biology. She earned her Bachelor of Science degree in Pharmaceutical Chemistry and Biology from the Faculty of Chemistry at the National Autonomous University of Mexico (UNAM).