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Director, Human Genetics/Genomics

CHDI Foundation
Princeton, NJ Full Time
POSTED ON 2/26/2025
AVAILABLE BEFORE 3/23/2025
Job Posting

Title: Scientific Director: Human Genetics/Genomics

Reports directly to the Vice President Preclinical Drug Discovery

Location: Los Angeles, CA or Princeton, NJ / currently hybrid

Vaccination against COVID-19 is a prerequisite for employment at CHDI Management.

About CHDI

CHDI Foundation, Inc. is a privately funded, nonprofit, biomedical research organization that is exclusively dedicated to rapidly accelerating therapies that slow the progression of Huntington’s disease (HD). Our scientists work closely with a network of more than ~700 researchers in academic and industrial laboratories around the world in the pursuit of these novel therapies, providing strategic scientific direction to ensure that our common goals remain in focus. This helps bridge the translational gap that often exists between academic and industrial research pursuits and that adds costly delays to therapy development. In our role as a collaborative enabler, CHDI seeks to bring the right partners together to identify, address, and de-risk critical scientific issues to accelerate drug candidates to clinical evaluation as rapidly as possible. Our activities extend from exploratory biology to the identification and validation of therapeutic targets and the development of proof-of-concept compounds, as well as support for clinical studies and trials.

Our staff works for CHDI Management, Inc. CHDI Management provides administrative, management, and contracting services to CHDI Foundation, as well as to other non-profit organizations dedicated to HD research.

Job Role

CHDI Management seeks an experienced, innovative, and passionate drug discovery scientist to join the preclinical team as Science Director, to support the Foundation’s mission to accelerate meaningful therapies and clinical biomarkers for Huntington’s disease. In this role you will be responsible for developing and coordinating the strategy and tactics for human genetics, genomics and genetic epidemiology as applied to drug discovery. You will participate in interdisciplinary internal and external collaborative teams with goals, strategies and objectives to advance a portfolio of drug discovery campaigns to identify human genetics based targets and to provide insights into target/pathway mechanisms, efficacy, polygenic risk scores, biomarkers, and patient stratification. You will participate in identifying, evaluating, advising, and partnering on external programs, technologies, and modalities that are relevant to our mission. The position involves being a team member along with a group of highly experienced group of scientists within CHDI, as well as coordination/oversight of a larger team of external experts and collaborators (CROs and academics) within a unique “virtual” biopharmaceutical research model. A strong commitment to help patients coupled with scientific excellence, and commitment to collaborating, engaging and empowering diverse scientists is essential. CHDI Foundation conducts their research from three USA-based offices (New York City, Los Angeles, & Princeton). The position requires regular travel between the CHDI offices and to the various CROs and academics located in the USA, EU, and Britain.

Job Description

  • Provide expertise in human and medical genetics with demonstrated ability to integrate human genetics with diverse multi-dimensional phenotypic datasets to inform on target, pathway, biomarker, and clinical trial stratification goals
  • Provide expertise in human genetics, genomics, statistical genetics and genetic epidemiology to advance the relationship between genes, encoded proteins, and human phenotypes as relevant to advancing treatments for Huntington disease (HD)
  • Provide expertise in approaches to identify allelic series of variants associated to HD clinical and molecular phenotypes
  • Provide expertise in investigating variant function to develop target mechanistic insights and candidate therapeutic modulation, efficacy and therapeutic index
  • Provide expertise in variants as pathway entries to understand and mine pathway/networks for candidate HD disease modifying therapies
  • Provide Expertise and interest in exploring and establishing collaborations to expand CHDI’s human genetic investigations beyond current data on western European ancestries
  • Provide human genetics expertise to CHDI’s Enroll Platform, CHDI’s sponsored GEMs consortium, and CHDI’s collaboration with Regeneron’s Genetics Center
  • Provide expertise to identify and mine large genetic epidemiological cohorts for new genetic insights into Huntington disease (and related triplet based Mendelian disorders and genetics of neurodegeneration) and additional understanding of identified genes of therapeutic interest
  • Provide expertise with genetic tools, approaches (e.g. GWAS, PheWAS, e-QTLs, Linkage Analysis, Mendelian Randomization. Etc.), informatics, platforms (e.g. DNANexus) databases and approaches to variants and pathways for biomarkers and programs of therapeutic relevance to HD
  • Provide expertise to the analysis of complex loci and haplotypes, gene-specific and genome-wide polygenic risk scores and genetic studies that simulate and inform randomized controlled trials for the treatment of HD.
  • Provide human genetics perspective as part of a multi-disciplinary drug discovery team that includes computational chemistry, structural biology, medicinal chemistry, and HD molecular, computational, cellular and organismal and clinical domains of expertise

Job requirements

  • Advanced Degree in genetics, epidemiology, medicine or related discipline
  • A minimum of 5 years of experience in the biotech / pharmaceutical industry or a human genetics drug discovery oriented academic effort
  • Demonstrated track record in illuminating biology by genotype:phenotype studies
  • Demonstrated proficiency in statistical genetics
  • Demonstrated track record of understanding of genetic variant discovery and characterization for the identification of candidate drug targets and pathways
  • Demonstrated experience successfully applying genetic approaches, analytical/computational tools, databases, platforms to the identification of causal modifiers of human disease, particularly Mendelian disorders and neurological/neurodegenerative diseases
  • Demonstrated experience functioning within a strong multi-disciplinary team, utilizing cross-functional information, such genetic variant based on computational modeling, structure-function studies of variants in cell and animal models, large multi-omics datasets, and genotypic variant-phenotypic studies in humans
  • Demonstrated experience working with contract research organizations, biopharma, academic consortia (e.g UK Biobank, All of Us, etc.), Medical Groups/Electronic Health records, and academic collaborators
  • Strategic thinker capable of contributing to the prioritizing and implementing the Foundation’s significant resources for innovation and drug discovery prosecution to successfully influence/impact our mission
  • Strong interpersonal and written and oral communication skills, and a demonstrated enthusiasm for participating in collaborative enablement characterized by mission focus, rigorous science and innovative thinking

Salary range: $120,000-220,000. Exact compensation will vary based on experience.

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Salary : $120,000 - $220,000

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