Post Doctoral Research Fellow – Rare Disease Genetics | Mass Eye and Ear, Broad Institute

Boston, Massachusetts, We are seeking an energetic and self-motivated post-doctoral research fellow in computational biology/statistical genetics to join our team in the Ocular Genomics Institute (OGI) at Mass Eye and Ear, Harvard Medical School and the Broad Institute to work with us studying the genetic architecture of rare genetic diseases. We initiated this project by studying inherited retinal degenerations (IRDs), which are the most common cause of blindness in working aged people. Via use of population-scale biobanks, we found that the penetrance of variants identified in traditional genetic studies to cause IRDs was much lower (9-28%) than the 100% expected based on the prior phenotype-based genetic studies (see Zaslavsky et al AJHG 2026, PMID 41435840).
We believe these results have important implications for understanding IRD genetics, and Mendelian disease genetics in general, and demonstrate the importance of ascertainment bias in studies of rare disease genetics. We hypothesize that pathogenic variants in disease-associated genes create a pre-disposition or risk of developing disease, but that other genetic and environmental factors contribute to disease expression and phenotype severity.
We are now working to extend these studies to additional biobanks and other Mendelian diseases. We are also planning genetic association studies to identify the other genetic variants which we hypothesize contribute to the expression of disease phenotypes in people at risk for developing disease due to pathogenic variants in disease-associated genes.
The post-doctoral fellow will work with Drs. Rossin and Pierce to plan and perform these additional studies. This will involve working with the research team and collaborators to explore the role of ascertainment bias in other Mendelian disorders and aggregation of data from individuals with disease-associated variants to perform association studies to identify genetic modifying factors. Duties and Responsibilities: The Postdoctoral Fellow will have the opportunity to work in a collaborative research environment at both the Broad Institute of Harvard and MIT and the Ocular Genomics Institute at Mass Eye and Ear in the Department of Ophthalmology at Harvard Medical School. The project will involve collaboration with members of the Program in Medical Population Genetics (MPG) at the Broad Institute. The postdoctoral fellow will work with whole genome genetic data including data from genotyping arrays and sequencing (exome and whole-genome) as well as data from gene and proteomic expression large-scale experiments.
Qualifications
The ideal candidate should have received (or expect to receive soon) a Ph.D. in human genetics, statistical genetics, computational biology, or bioinformatics. Competitive candidates will have prior experience working with genome and exome sequencing datasets and/or population-scale biobanks such as the NIH All of Us Program and the UK Biobank. Additional qualifications include:

First (or co-first) author of one or more peer-reviewed scientific publications
Outstanding recommendations from prior research supervisors
Excellent verbal and written English communication skills
Able to work both independently and collaboratively
Experience with commonly used bioinformatics tools and databases
Programming skills (e.g., R, Python, C++, etc.)
Experience working with cloud-based computing systems
Advanced knowledge of statistical methods
Expertise in analyzing next-generation sequencing data