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Clinical genetics news

DNA sequencing reveals how rare cancer spread between twins before birth

Two identical sisters came into the world carrying the same rare cancer. They lost their lives to an undifferentiated sarcoma, a soft-tissue cancer driven by a unique gene fusion (MN1::ZNF341). The story began before they ...

Genomic cancer driver study reveals new clues to why some prostate cancers become aggressive

Why do some prostate cancers grow slowly for years, while others progress quickly to life-threatening metastatic disease? An international team of researchers co-led by the Ontario Institute for Cancer Research (OICR) and ...

AI tool helps identify harmful epilepsy genetic variants

A new artificial intelligence tool developed by Northwestern Medicine scientists and collaborating institutions can help determine whether genetic variants associated with a severe form of childhood epilepsy will cause disease, ...

Reversing age by reprogramming gene expression networks

Every organ and tissue progressively loses function and integrity as it ages. In fact, researchers have identified "hallmarks of aging" that not only present specific processes impacted by age, but are also thought of as ...

Aspirin rarely used for colorectal cancer prevention

People with Lynch syndrome have a significantly increased risk of developing colorectal cancer and other types of cancer due to a hereditary predisposition. The CAPP2 study had already shown in this high-risk group that acetylsalicylic ...

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 ...