Autor: Clinical genetics

Children born with a pathogenic variant in the TP53 gene, known as Li-Fraumeni syndrome, have a markedly increased risk of developing various types of cancer, often at a young age. Therefore, they undergo regular surveillance from early childhood, typi…

Children born with a pathogenic variant in the TP53 gene, known as Li-Fraumeni syndrome, have a markedly increased risk of developing various types of cancer, often at a young age. Therefore, they undergo regular surveillance from early childhood, typi…

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.

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.

Certain variants in the PSPH gene, which encodes an enzyme called phosphoserine phosphatase, prevent the body from making sufficient amounts of the amino acid L-serine, leading to a range of nervous system problems. New research in FEBS Open Bio revea…

Certain variants in the PSPH gene, which encodes an enzyme called phosphoserine phosphatase, prevent the body from making sufficient amounts of the amino acid L-serine, leading to a range of nervous system problems. New research in FEBS Open Bio revea…

A new study co-led by professor Valeriya Malysheva, group leader at the VIB-UAntwerp Center for Molecular Neurology, published in Nature Genetics, uncovers how the three-dimensional organization of DNA in rare immune cells can help explain genetic risk…

A new study co-led by professor Valeriya Malysheva, group leader at the VIB-UAntwerp Center for Molecular Neurology, published in Nature Genetics, uncovers how the three-dimensional organization of DNA in rare immune cells can help explain genetic risk…

In a longitudinal study conducted at Vanderbilt Health, including investigators from the Vanderbilt Memory and Alzheimer’s Center (VMAC), researchers found that lower cardiac output is associated with accelerated cerebral atrophy among older adults who…

Congenital heart disease affects approximately two in every 100 newborns globally. But why does it occur? An important part of the answer may lie in a previously unknown mechanism on the surface of our cells. Researchers from the University of Copenhag…