The authors describe a noninvasive prenatal screening approach involving a survey of sequence variation across the entire fetal exome using cell-free DNA obtained from a maternal blood draw.

The Charles A. King Trust Fellowship Program has announced the selection of the 2022 cohort of Research Fellows. Each fellow will receive two years of funding for research that focuses on the causes...

Scientific Reports - Epigenetic modulation through BET bromodomain inhibitors as a novel therapeutic strategy for progranulin-deficient frontotemporal dementia

'Try not to eat within 2 hours of bedtime,' is the message from a new study that found late eating acutely impairs glucose tolerance through a defect in insulin secretion.

AbstractContext. Constitutional delay of puberty (CDP) is highly heritable, but the genetic basis for CDP is largely unknown. Idiopathic hypogonadotropic h

Nature Medicine - A multi-ancestry analysis in large cohorts of patients with type 2 diabetes (T2D) identified 12 disease genetic clusters with distinct cardiometabolic trait associations,...

A study published online Sept. 6, 2021, by the journal Gut suggests that people who eat the most fruits, vegetables, and legumes have a lower risk of getting COVID and its complications, compared w...

Heidi Rehm, PhD, FACMG, is named as the 2022 recipient of the ASHG Curt Stern Award

Many genetic diseases are caused by diverse mutations spread across an entire gene, and designing genome editing approaches for each patient's mutation would be impractical and costly.

In this second installment of our three-part siblings series, we visit with Dr. Brian Skotko and Sue Levine to talk about the book they wrote entitled, ‘Fasten Your Seatbelt: A Crash Course on Down...

The findings of the study further support the notion that the risk of mental illness in children originates during pregnancy. A team of researchers, led by Massachusetts General Hospital (MGH), has...

What causes Down syndrome? What are signs someone has Down syndrome? Can Down syndrome be treated? Brian Skotko, M.D, M.P.P., Medical Geneticist and Emma Cam...

Troves of sequencing data reveal genes tied to autism through different variant types, providing a more complete picture of the condition’s genetic roots and new clues to its heterogeneity.

These data provide evidence for the independent associations of genetic risk and diet quality with incident type 2 diabetes and suggest that a healthy diet is associated with lower diabetes risk...

BACKGROUND: The American Heart Association’s Life’s Simple 7 (LS7) is a health metric that captures important factors associated with cardiovascular and cerebrovascular health. Previous studies highl

Physicians reflect on how faith influences their practice, and share moments of spiritual connection with patients.

Practicing these expert-recommended self-care habits can help promote a better and happier mindset all winter long.

Researchers say findings could provide insights that lead to new approaches for preventing and treating obesity and other metabolic diseases.

In a set of identical twins, investigators led by researchers at Massachusetts General Hospital (MGH) and Children's Hospital Philadelphia (CHOP) have identified a mitochondrial disease not previou...