Scientist II Genomics
Scientist II Genomics
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$ 108000 - 135000
1 Vacancy
Job Description
Why Sarepta Why Now
The promise of genetic medicine has arrived and Sarepta is at the forefront. We hold leadership positions in Duchenne muscular dystrophy (DMD) and limbgirdle muscular dystrophies (LGMDs) and we currently have more than 40 programs in various stages of development in gene therapy RNA and gene editing. In 2023 we launched our fourth therapy and the first ever gene therapy to treat Duchenne.
Were looking for people who see unlimited potential in themselves and who are motivated by an unwavering commitment to patients.
What Sarepta Offers
At Sarepta we care deeply about all the people in our community and believe in the importance of supporting them in all aspects of their lives. We aspire to maintain a culture that acknowledges people bring their whole selves to work and we will strive to help everyone in our community integrate their work and personal lives while maintaining productivity. We are committed to offering a range of benefits and worklife resources designed to support people in the following areas:
Physical and Emotional Wellness
Financial Wellness
Support for Caregivers
For a full list of our comprehensive benefits see our website: Importance of the Role
The Clinical Genomic scientist will leverage their expertise in clinical genomics and genetic epidemiology to navigate the complexities of rare disease. This role involves conducting studies to assess genotypephenotype associations estimate variant frequencies and make datadriven decisions to support numerous precision therapies under development for rare disease. The insights gained from these studies will enhance our understanding of clinical responses to therapies ultimately benefiting patient treatment. By applying advanced analytical techniques you will also contribute to the genetic assessment of current and future precison medicine indications.The Opportunity to Make a Difference
Design and execute genomic studies to assess genotypephenotype associations estimate variant frequencies and model disease prevalence using realworld epidemiological and clinical data.
Collaborate across scientific and clinical teams including biometrics biomarkers clinical development and commercial teams to develop and implement genotypephenotype analyses that support therapeutic programs.
Interpret and describe diagnostic reports from genetic testing performed across the globe.
Leverage publicly available genetic datasets including gnomAD UK Biobank and other biobanks to support datadriven insights for clinical and research initiatives.
Contribute to clinical trial design by supporting the development of genetically informed inclusion and exclusion criteria.
Support regulatory efforts by contributing to the preparation and review of regulatory submissions reports and scientific documentation.
Conduct comprehensive literature reviews to investigate disease biology progression and treatment safety synthesizing insights to inform research and therapeutic strategies.
Oversee project timelines and deliverables coordinating with technical and scientific vendors managing sample workflows in collaboration with research operations and ensuring alignment with internal stakeholders.
Generate highquality research reports and contribute to scientific publications effectively communicating findings to internal teams and the broader scientific community.
Represent Genomics and Data Science on crossfunctional program teams providing expertise in genetic data analysis and interpretation to guide decisionmaking.
Perform other related duties as assigned contributing to the continuous evolution of genomic research and its application to therapeutic development.
More about You
- Ph.D. in Genetics Computational Biology Statistical Genomics or a related field with strong expertise in human genetics and data analysis.
- Equivalent industry experience in genetic data science translational research or clinical genomics will be considered.
- Expertise in rare disease genomics including variant analysis genotypephenotype associations and disease prevalence estimation.
- Strong programming skills in R or Python for analyzing large genomic datasets with best practices for reproducible and efficient coding.
- Experience managing and analyzing largescale genomic and clinical datasets including exome and wholegenome sequencing data.
- Proven ability to manage multiple complex projects simultaneously ensuring timely and delivery of research goals.
- Excellent written and verbal communication skills with the ability to present findings clearly to scientific and nonscientific audiences.
- Strong organizational and documentation skills ensuring research processes and methodologies are welldocumented and reproducible.
- Pharmaceutical industry experience particularly in translational genomics clinical genetics or biomarker development is highly preferred.
- Experience with cloud computing and shared coding environments such as AWS Google Cloud or other scalable genomic data platforms is preferred.
- Familiarity with DNAnexus and large biobank datasets including UK Biobank for largescale genomic research is preferred.
- Knowledge of regulatory requirements for genetic data interpretation and experience contributing to regulatory documentation is preferred.
- Handson experience with computational pipelines for variant calling annotation and interpretation in rare disease contexts is preferred.
What Now
Were always looking for solutionoriented critical thinkers.
So if youre comfortable with ambiguity and candor relish challenging yourself and place kindness and integrity at the forefront of how you approach your peers and work then we encourage you to apply.
Employment Type
Full-Time
