Celia is a Research Scientist I with the Robinson lab, where she is working on common and rare variant additivity in Autism Spectrum Disorder (ASD). The inheritance of common variants associated with ASD from unaffected parents to children affected with ASD is highly complex and can contribute to the heterogeneity of the disorder. By understanding […]
Lynn is a genomic variant analyst who helps interpret rare disease exomes and genomes to identify causal candidate genes and variants. She also manages and coordinates activities for certain rare disease cohorts, working closely with a set of clinical collaborators from around the world. @LynnPais […]
Hana is a software engineer working on building tools to facilitate rare disease research. She studied computer science with a minor in engineering biology. […]
Melanie is a genetic counselor and the senior clinical manager for the Rare Genomes Project. Her background spans clinical care, research coordination, and clinical laboratory settings. She is involved in multiple aspects of the project including leading the return of results to families enrolled in the study. […]
Laura is a computational biologist jointly based in the MacArthur lab and the Broad Institute Data Sciences and Data Engineering (DSDE) platform. She works on the development of variant-calling pipelines for rare disease samples. […]
Kristen is an associate computational biologist who works on the preliminary analyses and management of datasets for the Exome Aggregation Consortium and novel gene discovery for Mendelian diseases. […]
Eric is a computational scientist interested in using large-scale exome sequencing data to inform diagnosis and therapeutic development strategy in Mendelian disease, particularly neurodegenerative disorders. He now works part-time while completing his graduate degree in the Biomedical and Biological Sciences Program at Harvard. […]
Mike is an associate computational biologist working on the preliminary analyses of exomes and genomes to identify causal candidate genes and variants. He also manages datasets from Mendelian disease collaborators. He was previously a Senior Research Associate in the Broad Institute’s Clinical Research Sequencing Platform. […]
Andrea is a FIMM-EMBL group leader at Institute for Molecular Medicine Finland (FIMM) and a research associate at Massachusetts General Hospital, Harvard Medical School. Andrea’s research interests lie at the intersection between epidemiology, genetics, and statistics. He leads a diverse group of 18 researchers including biologists, mathematicians, and medical doctors. He is a winner of […]
Samantha is the clinical project manager at the Broad Institute’s Center for Mendelian Genomics. She is a genetic counselor who has worked in the area of cardiovascular genetics and now focuses on the management and sharing of both clinical and genetic data. […]
