PSB 2023 Keynotes

Heidi Rehm
Heidi Rehm, PhD, FACMG
  • Center for Genomic Medicine, Massachusetts General Hospital
  • Chief Genomics Officer, Department of Medicine, MGH
  • Co-Director, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard
  • Medical Director, Broad Institute Clinical Research Sequencing Platform
  • Professor of Pathology, Harvard Medical School

Decoding the genome to uncover molecular basis of human disease

A key challenge in medicine and biology is to develop a complete understanding of the genomic architecture of disease. Yet the increasingly wide availability of 'omics' and clinical data, including whole genome sequencing, has far outpaced our ability to analyze these datasets in the genomic and organismal context. Challenges include interpreting the 98% of the genome that is noncoding to identify variants that are functional and may lead to disease, detangling genomic signals regulating tissue-specific gene expression, mapping the resulting genetic circuits and networks in disease-relevant tissues and cell types, and, finally, integrating the vast body of biological knowledge from model organisms with clinical observations in humans. I will discuss methods, including deep learning approaches, that address these challenges, and highlight their applications to the study of human diseases, including Autism Spectrum Disorder, Alzheimer's Disease, and cancer.


Heidi Rehm is the Chief Genomics Officer in the Department of Medicine and at the Center for Genomic Medicine at Massachusetts General Hospital working to integrate genomics into medical practice. She is a board-certified laboratory geneticist and Medical Director of the Broad Institute Clinical Research Sequencing Platform working to guide genomic testing for clinical and clinical research use. She is also Co-Director of the Program in Medical and Population Genetics at the Broad Institute and Professor of Pathology at Harvard Medical School. She is a principal investigator of ClinGen, providing free and publicly accessible resources to support the interpretation of genes and variants. Rehm also co-leads the Broad Center for Mendelian Genomics focused on discovering novel rare disease genes and co-leads the Matchmaker Exchange to also aid in gene discovery. She is a strong advocate and pioneer of open science and data sharing, working to extend these approaches through her role as vice chair of the Global Alliance for Genomics and Health. Rehm is also a principal investigator of the Broad-LMM-Color All of Us Genome Center supporting the sequencing and return of results to a cohort of one million individuals in the US and co-leading gnomAD, the Genome Aggregation Database.

Rehm received her bachelor's degree from Middlebury College in Molecular Biology and Biochemistry. She completed her PhD in Genetics at Harvard University studying the genetic and pathological basis of Norrie Disease, a deaf-blindness syndrome, and served as a postdoctoral fellow at Massachusetts General Hospital and Howard Hughes Medical Institute, expanding her studies into the genetic basis of hearing loss. She also completed a fellowship in Clinical Molecular Genetics at Harvard Medical School followed by board certification by the ABMGG.

Keolu Fox
  • University of California at San Diego

Talk title and abstract coming soon.


Coming soon.