Human Genetics Laboratory Leader

Job Description Summary

We are seeking a highly motivated and experienced scientist to lead a Human Genetics laboratory. You will drive the translation of human genetic insights into actionable biological hypotheses to enable target discovery and validation across disease areas. The successful candidate will lead a small team of biologists and shape the genotype-to-phenotype translation strategy, integrating rare variant genetics, functional biology, and advanced analytical approaches to inform target prioritization.

This position is part of the Human Genetics & Targets group within the Discovery Sciences (DSc) department in Biomedical Research at Novartis. The Human Genetics & Targets team is a global group of computational and experimental scientists dedicated to validating or invalidating genetics-driven target hypotheses. The team's extensive expertise in genetics analytics, biology, and translatable models is enhanced by DSc's capabilities in AI, functional genomics, chemical biology, and more. The team collaborates with disease area specialists to not only identify disease associations but fully understand the underlying disease mechanisms and advance drug discovery projects to benefit patients in need.

Job Description

Internal Job Title: Senior Principal Scientist or Associate Director
Position Location: Cambridge, MA, onsite #LI-onsite

Key responsibilities:

• Lead and develop a high-performing team of 2-3 wet lab scientists, establishing state-of-the-art experimental capabilities to functionally characterize human genetic variation
• Manage resources, priorities, and execution across multiple projects, ensuring high-quality data generation, interpretation, and delivery aligned with strategic goals
• Apply genetics expertise to enable recall-by-genotype strategies, including participant identification from biobank resources and design of deep phenotyping protocols
• Serve as senior scientific leader to evolve the genotype-to-phenotype research strategy, translating rare variants into biological hypotheses and target investment decisions
• Represent genetics expertise in cross-functional teams and governance boards, contributing to portfolio prioritization alongside computational biology and disease area experts
• Build and maintain strong internal and external partnerships, communicating scientific insights effectively to diverse audiences

Essential Requirements:

• PhD with 8+ years of post-graduate experience in genetics, with a focus on rare variants and/or genotype-to-phenotype translation
• Strong background in experimental biology, including cellular models and gene perturbation technologies relevant to variant characterization
• Extensive experience connecting clinical and/or biobank genetic data to biological mechanisms and therapeutic hypotheses across disease indications
• Proven people leadership skills, including mentoring and developing scientists, with the ability to influence cross-functional teams in a matrix environment
• Curiosity for emerging technologies and methods, including AI-based approaches for variant interpretation and prioritization
• Exceptional collaboration, communication, and problem-solving skills, with a strong track record of scientific innovation

Desirable Requirements:

• Hands-on experience in designing and executing recall-by-genotype studies
• Target and/or drug discovery experience in an industry setting