Senior Director, Translational Genetics

GeneDx (Nasdaq: WGS) delivers personalized and actionable health insights to inform diagnosis, direct treatment, and improve drug discovery. The company is uniquely positioned to accelerate the use of genomic and large-scale clinical information to enable precision medicine as the standard of care. GeneDx is at the forefront of transforming healthcare through its industry-leading exome and genome testing and interpretation services, fueled by the world’s largest, rare disease data sets. For more information, please visit www.genedx.com.

The mission of the Innovation Lab is to increase the diagnostic yield of our exome and genome products and reduce the time to diagnosis for patients with undiagnosed hereditary disease. Our vision is to deliver personalized and actionable health insights to every person who orders a genetic test from GeneDx. Achievement of our goals will require a culture of innovation, where creativity, experimentation, and the pursuit of new ideas are encouraged and embraced. Individuals are empowered to think critically, take risks, and challenge the status quo, to generate breakthrough solutions and drive positive change.

Summary:

We are seeking a highly motivated, collaborative, and adaptable Senior Director of Translational Genetics to lead translational research efforts that bridge the gap between genetic discoveries and the diagnosis of rare disease. The ideal candidate will bring scientific leadership, prior industry experience, and proficiency working with high-dimensional, multi-modal biological datasets for the diagnosis of genetic diseases. This role is pivotal in driving the translation of genetic and genomic research into practical whole genome sequencing applications, making a significant impact on patient care and personalized medicine.

Job Responsibilities:

• Help grow and mentor a team to develop infrastructure and new algorithms for analyzing and interpreting DNA, RNA and proteomic data.
• Formulate and implement a strategic roadmap for increasing diagnostic rates of genetic testing for rare diseases through acquisition, analysis and modeling of multi-omic data.
• Guide the development of data modeling approaches and algorithms to learn from 800,000+ exomes and genomes; apply these learnings to guide improvements in genome interpretation and continuous reclassification of variants.
• Develop and implement strategies to translate ongoing genetic research into clinical practice, through increased rates of genetic diagnosis and improved understanding of therapeutic options for rare disease.
• Develop and deploy novel methods, tools and approaches for identifying new relationships between genes and diseases.
• Work closely with cross-functional teams, including researchers from various fields to design experiments and develop multi-omics research questions.
• Ensure regulatory compliance for bioinformatics technology development and operations.

People Manager:

• Yes

Education, Experience, and Skills:

• Advanced degree (Ph.D. preferred) in Genetics, Molecular Biology, Bioinformatics, Computational Biology, or a related field.
• Minimum of 5 years of postdoctoral or industry experience in computational biology, genome analysis and research.
• Extensive experience in translational genetics research, with a strong background in clinical applications for genetic testing.
• Proficiency in programming languages (e.g., Python, R).
• Proficiency in genetic analysis tools, bioinformatics software, and data management.
• Proven ability to lead a diverse, cross-functional team of geneticists, data scientists, computational biologists and software developers for the delivery of new genomic interpretation tools and algorithms.
• Excellent communication skills for interacting with stakeholders and presenting findings.

Certificates, Licenses, Registrations: N/A

• None

Physical Demands:

• Ability to stand, walk, and sit for extended periods.

Work Environment:

• Fully remote.

 #LI-Remote

 

Pay Transparency, Budgeted Range$220,396—$275,495 USD

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Science - Minded, Patient - Focused. 

At GeneDx, we create, follow, and are informed by cutting-edge science. With over 20 years of expertise in diagnosing rare disorders and diseases, and pioneering work in the identification of new disease-causing genes, our commitment to genetic disease detection, discovery, and diagnosis is based on sound science and is focused on enhancing patient care.

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