Hilary Martin

Dr. Hilary Martin is a Group Leader in Human Genetics at the Wellcome Sanger Institute and a College Research Associate at St John's College, Cambridge. Her research focuses on medical and population genomics, analyzing high-throughput sequence and genotype data from large cohorts to address various medical and population genetic questions. She leads the Martin Group which studies the genetic architecture of rare and common disorders in diverse populations, with particular emphasis on populations with high levels of parental relatedness.

• BSc (Human Genetics) from the University of Queensland, Australia
• PhD from the Wellcome Trust Centre for Human Genetics in Oxford
• Postdoctoral research at Sanger Institute with Jeff Barrett
• Group Leader at Sanger Institute since September 2018

Dr. Martin's research program spans several key areas in human genetics. Her group analyzes large-scale genetic and electronic health record data to explore fine-scale population structure, its impact on disease risk, and the genetic architecture of both rare and complex diseases. A particular focus is on populations with high levels of parental relatedness (consanguinity), where her team investigates how autozygosity affects disease risk across the phenotypic spectrum. Her work on developmental disorders examines the role of rare recessive variants and polygenic risk, while her research with South Asian populations explores the genetic basis of cardiometabolic diseases.

Analyzing her recent publications reveals a strong trend toward multi-ancestry studies, particularly focusing on British Pakistani and Bangladeshi populations through the Genes & Health project. Her research increasingly integrates rare variant analysis with polygenic risk scores to understand the full genetic architecture of complex traits. There's also a growing emphasis on understanding how population structure, consanguinity, and founder effects influence disease risk across diverse populations. Her work bridges fundamental population genetics with clinical applications, particularly in neurodevelopmental disorders and cardiometabolic diseases.

• Extensive publication record in top journals including Nature, Cell, and Nature Genetics
• Leadership in major collaborative projects like Deciphering Developmental Disorders (DDD)
• Key contributions to understanding the role of consanguinity in disease architecture
• Development of methods for analyzing recessive variants in diverse populations

Dr. Martin leads a dynamic research group comprising PhD students, postdoctoral fellows, and staff scientists. Her group works closely with multiple large-scale studies including the Avon Longitudinal Study of Parents and Children (ALSPAC), Millennium Cohort Study, Born in Bradford, Deciphering Developmental Disorders study, Genomics England, and Genes & Health. She maintains strong collaborations with clinical and research teams across the UK and internationally, particularly with groups studying South Asian populations. Her research has secured significant funding through institutional support and collaborative grants that enable large-scale genomic analyses.

The Martin Group operates within the Human Genetics Programme at the Wellcome Sanger Institute, maintaining close ties with the Hurles Group and other related teams. They collaborate extensively with the East London Genes and Health project, which is one of the world's largest community-based genetics studies focusing on people of Pakistani and Bangladeshi heritage. The group maintains strict data security and confidentiality procedures while working closely with the communities they study through community engagement and dissemination of scientific findings.