Raul Eduardo Pina Aguilar MD, PhD

Dr. Pina-Aguilar is a physician with a specialization in Medical Genetics. He joined the Morton lab in 2018 as a postdoctoral fellow based at Brigham and Women’s Hospital and Harvard Medical School. His research efforts in the lab include developing methods to describe chromosomal abnormalities at nucleotide resolution, performing prenatal genome sequencing in cases with chromosomal rearrangements, and deciphering the role of genes of unknown function in fundamental processes during human fetal development. He also contributes to the SEQaBOO project, where he works on variant interpretation and on developing an analysis pipeline for identifying structural variants in genome sequences.

Dr. Pina-Aguilar studied medicine at the Autonomous University of Yucatan (UADY) in Merida, Mexico, and completed a postgraduate certificate in translational medicine at the University of Edinburgh. He completed his residency in clinical genetics at the National Autonomous University of Mexico (UNAM) and National Medical Center 20 de Noviembre, the tertiary hospital of the Institute for Social Security and Services for State Workers (ISSSTE) at Mexico City. He has been certified by the Mexican Board of Genetics (Consejo Mexicano de Genetica) since 2014.

Dr. Pina-Aguilar is actively working in the field of undiagnosed rare disorders, framing a network of young Mexican clinical geneticists interested in patients with undiagnosed diseases who are located outside major cities. He has been working during the past years to introduce next-generation sequencing methods (genes panels, exomes, and genomes) in order to improve the diagnosis of underserved Mexican patients with rare diseases. He also has a strong interest in reproductive genetics, disorders of sex development, and the development of preimplantation genetic testing in Latin America.