A team led by investigators at Massachusetts General Hospital (MGH) and the Broad Institute of MIT and Harvard recently developed a strategy for inferring which of these phases is present for rare variant pairs within genes. As reported in Nature Genetics, the work will be helpful for interpreting findings from clinical genetic testing—especially for recessive diseases, which arise when both copies of a gene are impacted by a damaging genetic variant.
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Investigators have developed a map that identifies non-coding regions of the human genome that lack typical variation, indicating that they are important sequences conserved during evolution and natural selection
Spinal muscular atrophy is a leading genetic cause of infant death worldwide, and is typically caused by loss-of-function mutations in the SMN1 gene, which produces the SMN protein.
Mass General-Developed Brain Care Score (BCS) is a Scientifically Validated Way to Assess Current Health Habits and Risk to Future Brain Health
Investigators have developed a Brain Care Score composed of physical, lifestyle, and social-emotional components, with a higher score indicating better brain care.
Department Chief Mitchel Harris, MD, Receives Physician’s Achievement Award from the Arthritis Foundation
Mitchel “Mitch” Harris, MD, recently received the 2023 Marian Ropes Award from the Arthritis Foundation.
Clarivate Analytics’ Highly Cited Researchers List is an annual report of individuals at universities, research institutes and commercial organizations who demonstrate a significant and broad influence in their field or fields of research.
Research Spotlight: How IKAROS Organizes the Genome in Nuclear Space to Control Healthy B Cell Development
Scientists show how a protein called IKAROS helps
The blood test approach is potentially scalable and could offer the same genetic information that currently requires an invasive procedure such as amniocentesis.
Researchers have learned more about how increased levels of an enzymatic protein called HDAC6 connects to the onset of harmful brain changes in Alzheimer’s disease (AD) and identified a potential treatment strategy.