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Clinical genetics news

Why the body's inflammatory alarm misfires in familial Mediterranean fever

Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease in which the body's own immune system overreacts to minimal or inappropriate stimuli, producing recurrent attacks of fever and painful inflammation. ...

From growth to function: Gene helps human heart cells decide when to mature

Understanding how heart muscle cells stop dividing and acquire the characteristics needed to sustain lifelong cardiac function remains one of the greatest challenges in cardiovascular biology. Leveraging human induced pluripotent ...

Finding new osteoarthritis medicines via AI and genetics

Osteoarthritis (OA) is a chronic, painful joint disease and a leading cause of disability. Despite its prevalence, therapies for osteoarthritis are limited and focus on symptom management. Now, researchers are combining genetic ...

Human genome milestone opens door for personalized genomics

Scientists have reconstructed the complete genome of a real person, with full sets of chromosomes from each parent, a breakthrough expected to advance research, improve the diagnosis of genetic diseases and make personalized ...

New biobank of tumor models reveals cancers' weak spots

A new open resource of cancer models has enabled researchers to create the first large-scale map of the genes that cancers rely on to survive, offering new avenues for research into better and less toxic treatments for patients.

Parkinson's gene linked to early dysfunction in brain cells

Northwestern Medicine scientists have uncovered how a major Parkinson's disease gene disrupts the brain's most vulnerable dopamine-producing neurons before detectable neuronal loss. The study offers new clues for developing ...

Somatic mutations linked to vascular damage in progeria

Hutchinson–Gilford progeria syndrome (HGPS) is a genetic disorder that causes remarkable premature aging. Most patients die during their teenage years from cardiovascular disease, but the precise mechanisms underlying vascular ...