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Richard Maas

M.D., Ph.D.

Division of Genetics, Brigham and Women’s Hospital

Professor of Medicine, Harvard Medical School

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.

Division of Genetics, Brigham and Women’s Hospital

Professor of Medicine, Harvard Medical School

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

Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome

Published On 2022 Jul 22

Journal article

CONCLUSION: ROSAH syndrome is an autoinflammatory disease caused by gain-of-function mutations in ALPK1 and some features of disease are amenable to immunomodulatory therapy.