Benjamin Neale

Benjamin Neale is co-director of the Program in Medical and Population Genetics at the Broad Institute and is director of genetics at the Stanley Center for Psychiatric Research. He also serves as associate director of flagship disease projects for the Novo Nordisk Foundation Center for Genomic Mechanisms of Disease at the Broad. He is an associate professor in the Analytic and Translational Genetics Unit (ATGU) at Massachusetts General Hospital (MGH), where he directs the Genomics of Public Health Initiative. He is also an associate professor in medicine at Harvard Medical School (HMS). Neale is strongly committed to gaining insights into the genetics of common, complex human diseases. 

Neale’s research focuses heavily on statistical methodology. He has led large-scale international genetic studies of patients with ADHD, autism, age-related macular degeneration, type 2 diabetes, and metabolic disorders. Recently, his lab led the analysis for the Schizophrenia Exome Sequencing Meta-Analysis consortium, which uncovered rare variants in 10 genes that have an outsized impact on a carrier's risk of developing schizophrenia. He has analyzed genetic data from large-scale studies of patients with ADHD, autism, age-related macular degeneration, type 2 diabetes, and metabolic disorders. Neale also analyzed data from the first ADHD genome-wide association study (GWAS) meta-analysis, which combined the results of four studies to boost statistical power. Neale contributed to the development of software tools such as PLINK, one of the most frequently used packages for GWAS analysis. In addition to his roles at both the Broad Institute and MGH, Neale is the head of the ADHD psychiatric genetics GWAS analysis committee and an active member of the broader Psychiatric GWAS Consortium analysis committee, which is charged with analyzing all psychiatric data from these large-scale genome-wide association studies. Neale also led the design of the exome chip, a genotyping array that captures rare coding variation in a cost-effective manner. To date, over 1.5 million exome chips have been sold.

Neale studied at the University of Chicago and Virginia Commonwealth University, earning a B.Sc. in genetics. He went on to earn his Ph.D. in human genetics from King’s College in London, UK. Neale completed his postdoctoral training in Daly’s laboratory at Massachusetts General Hospital. In addition to many local research collaborations, he also serves as advisor and analyst to international genetic research consortia on psychiatric diseases.

January 2023