Mission Statement
JUANSEARCH LLC is a scientific research consulting company dedicated to aiding companies in need of help navigating large biomedical datasets in order to develop products and produce actionable insight. Please contact us to discuss your business needs.
Juan is a Puerto Rican scientist who studies the relationship between disease risk and human genetic variation. I have over 16 years experience developing technology, writing code, and publishing manuscripts on this topic.
Current Research Focus
1. Applications of machine learning to biomedical data to deliver insights aimed at improving the efficiency of therapeutic development.
2. Innovative application of genetic technology for advancing the state-of-the-art in healthcare.
3. Predicting, validating and discovering the impact of genetic variation on health.
4. Fostering the next generation of biomedical scientists.
Educational Background
Juan 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, he 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. His PhD dissertation was made possibly by a Ruth L. Kirschstein Predoctoral Individual National Research Service Award funded by NHGRI.
Postdoctoral Academic Career
After defending his PhD and graduating from UCSD, Juan 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 he met Jason Mezey, who invited him to 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 Juan primarily worked on projects within the broad field of human genetics and genomics. The focus of his work was understudied populations, with a focus on the Greater Middle East, a region we had the opportunity to study with help of a "sister" lab at Weill Cornell Qatar. Together they 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, Juan led a multi-institute collaboration to develop QChip, a knowledgebase and genotyping microarray for precision medicine in Qatar. So far, the QChip has been used in the clinic to screen over 700 newborns for over pathogenic variants linked to over 3 thousand genetic diseases.
Juan joined to the the Regeneron Genetics Center in 2019, and maintained an "Of Courtesy" volunteer appointment at Weill Cornell. During this period, Juan continued to work on research projects in collaboration with colleagues at Weill Cornell, including a study in review assessing the potential impact on quality of care in the intensive care unit of whole-genome-sequencing-based screening of variants that influence metabolism of commonly prescribed medicines.
Industry Career
At the Regeneron Genetics Center served as a Senior Manager in the Founder and Special Populations Team led by Alan R. Shuldiner for 6 years. At Regeneron, Juan's primary focus was the development of a research collaboration with the Center for Non Communicable Disorders in Pakistan, led by Danish Saleheen, a professor at Columbia University in New York. The collaboration started as a small research project focused on genetics of cardiovascular diseases in 20 K research participants and grew to a cohort of over 175 K participants sequenced and analyzed, with over 50 K more recruited across a wide variety of diseases. Analysis of this dataset led to many discoveries, including an association between NOTCH3 and stroke attributable to over 1% of strokes in South Asia. This study was presented at the American Society of Human Genetics and was published in Nature Communications.
Later stages of the CNCD collaboration was co-funded by Regeneron and other pharmaceutical companies such as Novartis, who led multiple publications regarding South Asian genetic variation in human genes critical to therapeutic development, such as GDF15 and SLC30A8. Pharmaceutical companies are interested in studying the Pakistani population due to a high rate of consanguinity, which maximizes the probability of finding homozygotes for deleterious variation compared to other populations, as demonstrated in prior studies by Dr Saleheen.
Luan