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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 ...

A unified framework to explain one of cancer's major drivers

In a rare pair of papers published back-to-back in the journal Genes & Development, research teams led by senior author Anindya Bagchi, Ph.D., associate professor in the Cancer Genome and Epigenetics Program at Sanford Burnham ...

Study demonstrates a new standard for pediatric research

A new analysis from the Gabriella Miller Kids First Data Resource Center (Kids First DRC) shows how a collaborative, data-driven research model is creating broader opportunities to understand pediatric disease.

Rare gene variants may multiply Alzheimer's disease risk

Alzheimer's disease is the most common form of dementia worldwide, and its development is influenced by a combination of genetic and environmental factors. In recent years, the PLCG2 gene and its encoded enzyme, PLCγ2, have ...

What is sudden adult death syndrome?

When Mark Hughes, the former Manchester United and Wales manager, lost his 38-year-old son, an inquest found the cause was sudden adult death syndrome, or SADS.

New approach opens rare immune cells to genetic risk research

Much of how genetic risk leads to disease has remained hidden. In many cases, genetic variants linked to disease do not act on nearby genes along the chromosome. Instead, they influence genes located far away along the DNA ...

Genetic variants shed light on kidney transplant rejection

Immunosuppressive medications help prevent organ rejection following transplantation, yet some patients still experience rejection despite receiving adequate treatment. New research from Yale, published in the Journal of ...