Rare Disease and Family-based Genomic Discovery

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Job description

The Founder and Special Populations group at the RGC has 21 active collaborations and is exome sequencing >250,000 samples from founder and special populations from all over the world. The overall goal of this position is to conduct analyses of genetic and phenotype data in founder and special populations to obtain a deeper understanding of human biology and aging, identify novel therapeutic targets and seek indications for drug programs.
The successful candidate will: characterize the allelic architecture of many founder populations, identify genes of potential interest through genotype-phenotype associations & other genetic approaches, harness internal & external data sources and bioinformatics approaches to better understand novel genetic findings, and work with the Analytical Genetics group to seek validation of associations in other RGC population resources, and the Translational Genetics & Functional Modeling groups to glean deeper insights into mechanisms & biology.

A Day in the Life may include the following:

• Ability to work collaboratively as a member of the Founder & Special Populations team, with other Regeneron teams, and with external collaborators
• Manage multiple projects simultaneously and complete analyses in a timely & reliable manner
• Catalog and interpret results of allelic architecture analyses in various founder and special populations to glean novel insights into human biology and develop follow-up strategies
• Interpret results of genotype: phenotype association analyses from whole exome sequencing and genotyping studies
• Work with Analytical Genetics and Therapeutic Area Genetics teams to validate potentially interesting findings in founder and other special populations by extending the analyses to other RGC study populations (ex. Geisinger DiscovEHR, UK Biobank)
• Apply biological insights, internal and external data sets, published literature and other resources, and bioinformatics to prioritize genetic discoveries in founder and other unique populations for functional follow-up
• Work with Functional Modeling, Therapeutic Focus Area, and Early Clinical Development teams to nominate, design call-back studies, and functional experiments to follow-up on interesting hits
• Summarize and communicate study findings to the Founder and Special Populations team, leadership, and internal and external collaborators
• Actively identify and engage potential new external collaborators with access to well-phenotyped founder and special populations
• Survey the literature and attend conferences to incorporate discoveries and findings from the broader genetics community into study opportunities and considerations internally

This job may be for you if you have:

• a PhD or MD with 2+ years of experience with a strong background in human disease and/or applied population genetics
• Some experience analyzing and interpreting whole exome sequencing and genotyping studies (ex. variant level QC, statistical association analysis, and interpretation of association signals in complex disease)
• Some experience with standard statistical approaches and tools (ex. regression, linear mixed models, PLINK, R) and some programming experience (ex. Linux, Python)
• Ability to summarize data and results to identify patterns, signals, and issues
• An understanding of biology to integrate and leverage diverse datasets to identify interesting variants, genes, and genotype-phenotype associations
• Experience with molecular characterization and functional studies geared towards elucidating gene functions and the mechanistic basis for genetic associations is a plus

Does this sound like you? Apply now to take your first steps toward living the Regeneron Way! We have an inclusive and diverse culture that provides amazing benefits including health and wellness programs, fitness centers and stock for employees at all levels!

Regeneron is an equal opportunity employer and all qualified applicants will receive consideration for employment without regard to race, color, religion or belief (or lack thereof), sex, nationality, national or ethnic origin, civil status, age, citizenship status, membership of the Traveler community, sexual orientation, disability, genetic information, familial status, marital or registered civil partnership status, pregnancy or maternity status, gender identity, gender reassignment, military or veteran status, or any other protected characteristic in accordance with applicable laws and regulations. We will ensure that individuals with disabilities are provided reasonable accommodations to participate in the job application process. Please contact us to discuss any accommodations you think you may need. #LI-SC1