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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 ...

Ménière's disease may begin early in inner ear development

By analyzing genetic data from nearly 2 million people, researchers have unlocked a new scientific understanding of Ménière's disease, a chronic and often debilitating inner ear disorder. A team from the Perelman School of ...

AI and polygenic scores improve breast cancer risk assessment

A risk model that combines a mammographic artificial intelligence (AI) risk score with polygenic and clinical risk scores more accurately identifies women at high risk of developing breast cancer than clinical risk scores ...

Fragile X deficits in mice respond to gene therapy

A gene therapy designed to replace a missing brain protein restored normal brain activity and improved behavior in a mouse model of fragile X syndrome (FXS), according to a study led by researchers at the University of California, ...

New open tool can facilitate the reuse of genomic data

The GCAT|Genomes for Life team, a strategic project of the Germans Trias i Pujol Research Institute (IGTP), has developed PolyGenie, a new tool designed to facilitate the exploration and reuse of genomic data by the research ...