Temp- Senior Analyst, Mendelian Genetics

Location
Tarrytown, New York
Posted
Apr 19, 2018
Ref
11446BR
Discipline
Science/R&D, Genetics
Required Education
Masters Degree/MBA
Position Type
Contract
Position Summary

The Regeneron Genetics Center (RGC) is a wholly-owned subsidiary of the Company, whose goals are to apply large scale human genetics to identify new drug targets and to guide the development of therapeutics programs and precision medicine. Building upon Regeneron's strengths in mouse genetics and genetics-driven drug discovery and development, the RGC specializes in ultra-high-throughput exome sequencing, large scale informatics and data analysis encompassing genomics and electronic health records, and translating genetic discoveries into new biology and drug discovery opportunities. The RGC leverages multiple approaches including large population based studies, Mendelian genetics and family based studies, founder population genetics, and large-scale disease focused projects and has developed a network of over 50 collaborations with research organizations around the world. Including some of the largest sequencing studies in the world, such as the DiscovEHR study in collaboration with Geisinger Health System, and an initiative to sequence 500,000 participants with the UK Biobank, the RGC has built one of the largest human genetics databases, including sequence data from over several hundred thousand participants and rapidly growing. Our interests encompass a breadth of different areas across all therapeutic areas and the RGC is highly integrated into all facets of research and development at Regeneron. Program goals include target discovery, indication discovery, and patient-disease stratification. Objectives include advancing basic science around the world through public sharing of discoveries, providing clinically-valuable insights to physicians and providers of collaborating health-care systems, improving patient outcomes, and identifying novel targets for drug development.

Summary:

We are looking for a temporary hire in our Mendelian Genetics group to support Mendelian Genetics efforts at the RGC. The position will provide analytical and logistical support for Mendelian/Family-based genetics studies as part of the Regeneron Genetics Center (RGC). The goals of this team are to apply human genetics to novel target discovery, identify indications for drug programs, and stratify patients/diseases through genetic analyses and functional biology studies.
Primary responsibilities for this position are to support execution of genetic analysis in the Mendelian Team by: assembling the data sources necessary for upstream and downstream genetic analyses, visual confirmation of genetic variants identified through family based analyses, updating and maintaining phenotype and other databases relevant to the execution of family genetics studies, compiling relevant information from biological databases and scientific literature to inform on genes of interest, and support the development and execution of the overall scientific goals of the RGC.

Responsibilities:

Work directly with the lead of the Mendelian Genetics group at the Regeneron Genetics Center (RGC) to provide logistical support for the execution of family-based analyses by tracking projects, formatting files, maintaining databases, and compiling biological information necessary for the interpretation of results.
• Verify and format files necessary for family based genetic analyses to ensure that reported pedigree structures conform to genetically-derived familial relationships.
• Input, maintain, and update the phenotypic information necessary for the execution of family-based analyses into in-house phenotype databases.
• Verify and visually confirm variants of interest in candidate genes derived from family-based genetic analyses.
• Incorporate multiple data sources from publicly available and other databases to inform on potential genes of interest derived from the Mendelian Genetics group studies.
• Interpret and aggregate available data and information regarding candidate genes of interest from family-based and other analyses ongoing at the RGC into clear, well-organized, and thorough presentations and documents for presentation, discussion, and documentation within the RGC, and discussion with Regeneron and external collaborators.
• Interface with members of other RGC teams including analytical genetics, clinical informatics, functional modeling, and genome informatics teams at the RGC to facilitate genetics projects.
• Assist in the preparation of scientific presentations, manuscripts, and reports, including the preparation of tables, figures, and graphs depicting research results.
• Survey the literature and scientific conferences to incorporate discoveries and findings from the broader genetics and genomics community into interpretation of results and study opportunities to facilitate the studies performed at the RGC.

Requirements:

This position requires an MS or PhD in biological sciences with an interest in supporting projects that leverage human genetics for translational purposes.

Additional requirements include:
• Strong organizational skills with focus on detail.
• Familiarity with information databases from public and private sources, including clinical and population genetics databases (e.g. OMIM, ClinVar, HGMD, ExAC, ESP), functional genomics resources and browsers (e.g. UCSC Genome Browser, Ensembl, GTex), mouse and other model organism databases (e.g. MGI, ZFin, Flybase), and scientific literature repositories (e.g. PubMed).
• Ability to thoroughly aggregate, synthesize, and summarize multiple sources of information regarding genes and genetic variants and derive meaningful insight from novel genetic discoveries and prior genetic knowledge in a timely and organized manner.
• Demonstrated ability to communicate published data.
• Demonstrated ability to synthesize scientific data through publication track record.
• Basic bioinformatic skills and familiarity with clinical genetics and medical genetics language are desirable.

This is an opportunity to join our select team that is already leading the way in the Pharmaceutical/Biotech industry. Apply today and learn more about Regeneron's unwavering commitment to combining good science & good business.

To all agencies: Please, no phone calls or emails to any employee of Regeneron about this opening. All resumes submitted by search firms/employment agencies to any employee at Regeneron via-email, the internet or in any form and/or method will be deemed the sole property of Regeneron, unless such search firms/employment agencies were engaged by Regeneron for this position and a valid agreement with Regeneron is in place. In the event a candidate who was submitted outside of the Regeneron agency engagement process is hired, no fee or payment of any kind will be paid.

Regeneron is an equal opportunity employer and all qualified applicants will receive consideration for employment without regard to race, color, religion, sex, national origin, sexual orientation, gender identity, disability status, protected veteran status, or any other characteristic protected by law.

Requisition Number: 11446BR