Senior Genomics Scientist AI & Real-World Evidence

BioMarin Pharmaceutical Inc.; Greater London; Hybrid; GBP 90,000 - 125,000; Full time

Job summary

BioMarin is seeking a Senior Scientist in Genomics to join the London team in a hybrid role (2 days onsite per week). You will apply human genetics and AI/ML techniques to identify patient populations and inform development strategies for rare genetic diseases.

The ideal candidate has a PhD with 3+ years in biotech/pharma, hands-on experience with large-scale genomic datasets, and strong cross-functional communication.

Qualifications

• PhD or equivalent in human genetics, statistical genetics, bioinformatics, computational biology, or genetic epidemiology.
• At least 3 years in biotech/pharma with cross-functional experience across research and non-research functions.
• Experience analyzing large-scale human genetic/genomic datasets (WES/WGS, genotype-phenotype, EHR/claims).
• Familiarity with genomic resources like UK Biobank, All of Us, or similar datasets.

Responsibilities

• Carry out analyses integrating genetics, literature, EHR/claims, and genomic data to define disease segments and patient populations.
• Collaborate with Clinical, Commercial, Real World Evidence, Research, and Business Development to translate genomic evidence into actions.
• Manage external collaborations with academic groups, CROs, labs, and data providers; define scope and deliverables.
• Evaluate external cohorts and genetic testing labs for patient-identification and prevalence analyses.
• Apply AI/ML and advanced statistics to large datasets; ensure reproducibility and rigor.
• Support portfolio prioritization and business development by assessing genetic rationale and data gaps.
• Develop methods for analyzing whole‑exome and whole‑genome data with phenotypic datasets.
• Communicate recommendations clearly to both scientific and non-scientific stakeholders.

Skills

Genomics data analysis

R/Python

AI/ML

Cross-functional collaboration

Communication skills

External partnerships

Cloud platforms

Education

PhD or equivalent in genetics/biostatistics

Tools

R

Python

AWS/GCP

Job description

Who We Are

BioMarin is a leading rare disease biotechnology company focused on genetically defined conditions.

Guided by our purpose to develop medicines that make a profound impact on people’s lives, our global teams have delivered a portfolio of therapies since our founding in 1997. Our revolutionary treatments for conditions like achondroplasia (the most common form of dwarfism), PKU (phenylketonuria), CLN2, a form of Batten disease, and a number of forms of MPS (mucopolysaccharidosis) offer new possibilities for patients and families who previously had few, if any, available options. More recently, with the close of the Amicus acquisition, our portfolio has expanded to include therapies for Fabry disease and Pompe disease, expanding our ability to reach more people living with rare genetic conditions.

Our success comes from our unwavering commitment to excellence, our deep understanding of patient needs, our scientific expertise, and our world-class manufacturing capabilities. At the heart of BioMarin is a dedicated team of the brightest minds in the industry working together to deliver innovative therapies to patients and families around the world.

About Worldwide Research and Development

From research and discovery to post-market clinical development, our R&D engine involves all bench and clinical research and the associated groups that support those endeavors. Our teams work on developing first-in-class and best-in-class therapeutics that provide meaningful advances to patients who live with rare diseases.

Senior Scientist, Genomics

London ( hybrid role 2 days per week onsite)

Closing date: 2nd November 2026

We’re looking for a Senior Scientist to join our Genomics group at BioMarin.

This role will use human genetics, genomics, real-world evidence, and AI to identify and characterize patient populations, inform clinical and commercial patient-finding strategies, and support the development of therapies for genetic diseases. The ideal candidate combines strong quantitative genomics expertise with cross-functional judgment, pragmatism, and the ability to turn incomplete evidence into clear recommendations.

Responsibilities

• Carry out analyses that integrate human genetics, literature, EHR/claims data, genetic-testing data, and other evidence to define disease segments, biomarkers, diagnostic pathways, and patient populations.
• Partner closely with Clinical, Commercial, Real World Evidence, Research, Business Development, and other teams to translate genomic evidence into actionable clinical and commercial recommendations.
• Establish and manage external collaborations with academic investigators, CROs, testing laboratories, and data providers, including defining analytical scope, timelines, deliverables, data needs, and decision criteria.
• Evaluate external cohorts, genetic-testing laboratories, CROs, and data providers for patient-identification, prevalence, and genotype-phenotype analyses.
• Apply statistical genetics, epidemiology, AI/ML, and advanced statistical methods to large-scale genomic and real-world datasets; ensure analyses are reproducible, appropriately rigorous, and decision-oriented.
• Contribute to portfolio prioritization and business development diligence as needed by assessing genetic rationale, patient-identification feasibility, population size, and data gaps.
• Apply and develop statistical and computational approaches to analyze and interpret whole-exome and whole-genome sequence data in combination with phenotypic or other genomic data.
• Communicate recommendations to scientific and non-scientific stakeholders, clearly distinguishing evidence, assumptions, uncertainty, tradeoffs, and next steps.

Required qualifications

• PhD or equivalent experience in human genetics, statistical genetics, bioinformatics, computational biology, or genetic epidemiology.
• At least 3 years of biotechnology or pharmaceutical industry experience with demonstrated cross-functional work across research and non-research functions, such as Clinical, Commercial, Real World Evidence, Medical Affairs, Patient Identification, or Business Development.
• Expertise analysing large-scale human genetic or genomic datasets, such as whole-exome, whole-genome, array, genotype-phenotype, EHR-linked, claims-linked, registry, or clinico-genomic datasets.
• Familiarity with genomic, real-world, or patient-identification resources such as UK Biobank, All of Us, genetic-testing laboratory datasets, EHR/claims networks, registries, or comparable sources.
• Experience programming in R and/or Python; experience with cloud computing, workflow systems, or scalable data environments is strongly valued. Hands-on experience applying AI/ML or advanced statistical methods to large biomedical datasets, beyond general-purpose chatbot use.
• Experience initiating or managing external collaborations with academic groups, CROs, data providers, genetic-testing laboratories, or similar partners.
• Ability to synthesize multiple evidence types, make assumptions explicit, and recommend a practical course of action when data are incomplete, imprecise, or time-constrained.
• Strong written and verbal communication skills; comfortable spending a substantial portion of time with clinical, commercial, and other non-research stakeholders.
• Preferred: Experience with patient finding, prevalence estimation, rare-disease epidemiology, genetic screening, clinical-trial feasibility, or commercial patient-identification strategy.

Note: This description is not intended to be all-inclusive, or a limitation of the duties of the position. It is intended to describe the general nature of the job that may include other duties as assumed or assigned.

Equal Opportunity Employer/Veterans/Disabled

An Equal Opportunity Employer. All qualified applicants will receive consideration for employment without regard to race, colour, religion, sex, sexual orientation, gender identity, national origin, or protected veteran status and will not be discriminated against on the basis of disability.