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Richard Maas

M.D., Ph.D.

Professor of Medicine, Harvard Medical School

Division of Genetics, Brigham and Women’s Hospital

Dr. Maas is Professor of Medicine (Genetics) at Harvard Medical School, and former Chief of the Division of Genetics at Brigham and Women’s Hospital, a position he has held for over 20 years.  His credentials include 30 years on the HMS faculty as a physician-scientist, tenure as an HHMI Investigator, election to the ASCI and as a Fellow of the AAAS, an NIH MERIT Award, and many others.  Faculty of the BWH Division of Genetics include members of HHMI, NAS, and NAM, as well as past winners of the Gairdner, Lasker, and Breakthrough Prizes. Dr. Maas has also been PI of the BWH Biomedical Research Institute Director’s Transformative Award that provides institutional support to Brigham Genomic Medicine (BGM).  BGM is an integrated clinical and research program that enables BWH faculty from multiple BWH departments and divisions to diagnose genetic disorders and to discover new monogenic disease genes via WES/WGS.  He is also a prior PI of and is now on the External Scientific Advisory Group of an NIH U01 Consortium called FaceBase that employs WES/WGS to identify genes that cause craniofacial birth defects, Director of the Harvard Undiagnosed Disease Clinical Site (HUDN-CS) Genome Analysis Team.  In addition, he previously directed a large NIH U54 Interdisciplinary Research Consortium focused on systems biology approaches to organ regeneration.  His research focuses on the developmental genetics of vertebrate organogenesis, on disease gene discovery, and on the clinical implementation of genomic medicine.

Dr. Maas earned his undergraduate degree in chemistry from Dartmouth College before matriculating in the Vanderbilt M.D., Ph.D. program. Dr. Maas then pursued his internship and residency in Internal Medicine at Brigham and Women’s Hospital and completed his postdoctoral training with Dr. Philip Leder in the Department of Genetics at Harvard Medical School. He joined the HMS faculty in the Division of Genetics at Brigham in 1989.

Richard Maas

M.D., Ph.D.

Professor of Medicine, Harvard Medical School

Division of Genetics, Brigham and Women’s Hospital

Dr. Maas is Professor of Medicine (Genetics) at Harvard Medical School, and former Chief of the Division of Genetics at Brigham and Women’s Hospital, a position he has held for over 20 years.  His credentials include 30 years on the HMS faculty as a physician-scientist, tenure as an HHMI Investigator, election to the ASCI and as a Fellow of the AAAS, an NIH MERIT Award, and many others.  Faculty of the BWH Division of Genetics include members of HHMI, NAS, and NAM, as well as past winners of the Gairdner, Lasker, and Breakthrough Prizes. Dr. Maas has also been PI of the BWH Biomedical Research Institute Director’s Transformative Award that provides institutional support to Brigham Genomic Medicine (BGM).  BGM is an integrated clinical and research program that enables BWH faculty from multiple BWH departments and divisions to diagnose genetic disorders and to discover new monogenic disease genes via WES/WGS.  He is also a prior PI of and is now on the External Scientific Advisory Group of an NIH U01 Consortium called FaceBase that employs WES/WGS to identify genes that cause craniofacial birth defects, Director of the Harvard Undiagnosed Disease Clinical Site (HUDN-CS) Genome Analysis Team.  In addition, he previously directed a large NIH U54 Interdisciplinary Research Consortium focused on systems biology approaches to organ regeneration.  His research focuses on the developmental genetics of vertebrate organogenesis, on disease gene discovery, and on the clinical implementation of genomic medicine.

Dr. Maas earned his undergraduate degree in chemistry from Dartmouth College before matriculating in the Vanderbilt M.D., Ph.D. program. Dr. Maas then pursued his internship and residency in Internal Medicine at Brigham and Women’s Hospital and completed his postdoctoral training with Dr. Philip Leder in the Department of Genetics at Harvard Medical School. He joined the HMS faculty in the Division of Genetics at Brigham in 1989.

Recent Publications

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

Published On 2023 Aug 04

Journal article

Heterogeneous nuclear ribonucleoprotein C (HNRNPC) is an essential, ubiquitously abundant protein involved in mRNA processing. Genetic variants in other members of the HNRNP family have been associated with neurodevelopmental disorders. Here, we describe 13 individuals with global developmental delay, intellectual disability, behavioral abnormalities, and subtle facial dysmorphology with heterozygous HNRNPC germline variants. Five of them bear an identical in-frame deletion of nine amino acids...


De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

Published On 2023 Jul 14

Journal article

Phosphoinositides (PIs) are membrane phospholipids produced through the local activity of PI kinases and phosphatases that selectively add or remove phosphate groups from the inositol head group. PIs control membrane composition and play key roles in many cellular processes including actin dynamics, endosomal trafficking, autophagy, and nuclear functions. Mutations in phosphatidylinositol 4,5 bisphosphate [PI(4,5)P2] phosphatases cause a broad spectrum of neurodevelopmental disorders such as...