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Human Genetic Variation and Disease Risk




Welcome to my website! I am a Puerto Rican scientist who studies the relationship between disease risk and human genetic variation.

Currently I work at the Regeneron Genetics Center, where I am a Senior Manager in the Founder and Special Populations Team led by Alan R. Shuldiner. At Regeneron I am a computational biologist focused on the discovery of novel therapeutic targets. I recently presented my first discovery in this position at the American Society of Human Genetics


Educational Background

I grew up in San Juan, Puerto Rico, and left after high school to earn a Bachelor of Science in Biology at Massachusetts Institute of Technology. After exploring career options in medical school, Silicon Valley, and National Institutes of Health, I earned a Master of Science in Bioinformatics, mentored by Eleazar Eskin, and subsequently a PhD in Bioinformatics and Systems Biology at University of California in San Diego, co-mentored by Shankar Subramanian and Daniel T. O'Connor. My PhD dissertation was made possibly by a Ruth L. Kirschstein Predoctoral Individual National Research Service Award funded by NHGRI

Postdoctoral Career

After defending my PhD and graduating from UCSD, I spent a year as a Senior Statistician in Kelly Frazer’s lab, who invited me to the Biology of Genomes meeting at Cold Spring Harbor Laboratory. There I met Jason Mezey, who invited me to join him at Cornell for a postdoctoral NHLBI fellowship in pulmonary genetic medicine, and was subsequently hired as faculty in the Department of Genetic Medicine at Weill Cornell, led by the genetic therapy pioneer Ronald G Crystal.

While at Weill Cornell I primarily worked on projects within the broad field of human genetics and genomics. The focus of my work was understudied populations, with a focus on the Greater Middle East, a region we had the opportunity to study with help of our "sister" lab at Weill Cornell Qatar. Together we published over 16 original research articles, including studies of the ancestral origin of Qataris and the unique spectrum genetic disease risk variants in Qataris. Most recently, I led a multi-institute collaboration to develop QChip, a knowledgebase and genotyping microarray for precision medicine in Qatar. 

In addition, while at Weill Cornell I reconnected with academics in my homeland of Puerto Rico, including Juan Carlos Martinez Cruzado and Taras K Oleksyk (now at Oakland University in Michigan). We worked together on human genetics projects such as the 1000 Genomes Project and Genome Ukraine. While the focus of our collaboration was human genetics, we discovered a shared passion for genomics of endangered species and non-model organisms, which led to my involvement in genomic studies of the Puerto Rican Parrot and other endangered species in the Caribbean and beyond. 

While at Weill Cornell I was enticed by the possibility to continue my research on the genetics of human disease within a biotechnology industry environment. After reading about the Regeneron Genetics Center and hearing about their discoveries, I was thrilled when the opportunity arose to join their team.

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