Raul Piña-Aguilar

Dr. Piña-Aguilar is a physician with 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.

In the Morton lab, he has been working to bridge the molecular research and the clinical arms of the DGAP project, with the aim of understanding how apparently-balanced chromosomal rearrangements found in DGAP patients can impact gonadal development and human infertility. 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. Piña-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.

After completing his clinical training, he started a PhD in Reproductive and Developmental Biology at the University of Aberdeen in Scotland. For his doctoral thesis research, he studied a genetic form of male infertility producing azoospermia: 46, XX testicular disorder of sex development (46,XX testicular DSD). He used a wide range of experimental approaches to understand the molecular pathogenesis of this disorder and the implications of translocations involving sex chromosomes. These methods included studying transgenic mouse models of sex reversal, producing induced pluripotent stem cells of patients with 46,XX testicular DSD, utilizing CRISPR/Cas9 for genome editing in Y chromosome and sequencing the genomes of patients with rearrangements of sex chromosomes. In addition to his research, he was appointed adjunct of the North of Scotland Genetics Service at Aberdeen Royal Infirmary and was a researcher of the Scottish Genome Project. Currently, he holds an Honorary Clinical Lecturer appointment at the University of Aberdeen (https://www.abdn.ac.uk/people/raul.aguilar).

Dr. Piña-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 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. He is active on Facebook (https://www.facebook.com/Latinogenetics/) where he advocates for and engages with the Latin-American community of patients with infertility and genetic disorders.

He serves as junior deputy of the Special Interest Group of Andrology within the European Society of Human Embryology and Reproduction (ESHRE). In this role, he energetically supports scientific activities related to male infertility and reprogenetics. He is a member of the American College of Medical Genetics (ACMG) and the Mexican Association of Human Genetics (Asociación Mexicana de Genética Humana).

His publication list: