Scientist II in London

BioMarin is a global biotechnology company that relentlessly pursues bold science to translate genetic discoveries into new medicines that advance the future of human health. Since our founding in 1997, we have applied our scientific expertise in understanding the underlying causes of genetic conditions to create transformative medicines, using a number of treatment modalities. Using our unparalleled expertise in genetics and molecular biology, we develop medicines for patients with significant unmet medical need.

We are seeking a Scientist II to join the Genomics team to support late-stage clinical programs and post-marketing efforts to help improve patient identification. This role will have a direct impact on patients’ lives by helping us to better understand where our patients are around the world. The successful candidate will have the opportunity to contribute to patient identification efforts as part of our Enzyme Replacement Therapy Business Unit.

In particular, the candidate’s efforts will focus on:

• Estimating disease prevalence of rare, autosomal recessive disorders from genetic data to identify regions of the globe with high disease burden.
• Understanding the mutation spectrum that underpins these diseases.
• Resolving variants of uncertain significance to improve diagnostic outcomes.

This is an opportunity to work with dynamic, cross-functional teams where you can apply your expertise in statistical genetics and bioinformatics to contribute to the broader enterprise’s mission of finding and treating people affected with rare disease. You will collaborate with experts across a wide range of functions, including across Research & Development, as well as in our Global Medical Affairs and Commercial organizations.

RESPONSIBILITIES:

• Oversee the analysis of large-scale sequencing data in external cohorts of patients, working with academic and commercial partners to estimate disease prevalence of rare autosomal recessive diseases and support efforts in identifying patients around the world.
• Merge diverse sources of genotype-phenotype information, including in vitro data, and apply state-of-the-art annotation methods for determining mutation pathogenicity.
• Communicate discoveries to internal colleagues with a variety of backgrounds and to the wider scientific community through presentations or publications.
• Collaborate with internal colleagues across a variety of functions and backgrounds to understand the critical needs of the Enzyme Replacement Therapy Business Unit and deliver on those goals using genetic and genomic data.
• Evaluate bioinformatic and in vitro methods for resolving variants of uncertain significance (‘VUSs’); coordinate with external partners to execute translational assays for assessing variants of uncertain significance.
• Act as a leader for and provide support to more junior members of the team.

EDUCATION AND EXPERIENCE:

• PhD in bioinformatics, statistical genetics, computational biology, or a related field (or equivalent).
• Strong analytic skills, including fluency in at least one major programming language (ideally R or Python), and experience working with a high-performance computing cluster.
• Hands-on experience managing, analyzing, and interpreting large omics datasets, especially genetic variation data such as sequencing data and data capturing genotype-phenotype relationships.
• Experience leading your own research projects, particularly those that are collaborative (e.g., spanning multiple sites) and/or cross-functional (e.g., working and communicating with scientists outside your field of expertise).
• Ability to engage with internal and external partners to understand and identify key scientific questions and assess project priorities.
• A clear track-record of communicating science, for example through publications or conference presentations.
• Desired: 2+ years of experience post PhD in academia or industry.