Categoría: Noticias

A collaborative study used whole-genome sequencing to examine the genetic makeup of 110 children from Aosta Valley (Valle d’Aosta) with neurodevelopmental disorders and their parents. In a number of cases, researchers identified DNA variants that may b…

Intrahepatic cholestasis of pregnancy (ICP) affects approximately 0.2–2% of pregnant women and typically develops after 30 weeks of gestation. As the most common symptom is severe itching of the palms and the soles of the feet, the condition can often …

Intrahepatic cholestasis of pregnancy (ICP) affects approximately 0.2–2% of pregnant women and typically develops after 30 weeks of gestation. As the most common symptom is severe itching of the palms and the soles of the feet, the condition can often …

Researchers at the University of Cologne’s Center for Molecular Medicine Cologne (CMMC) have discovered a previously unknown mechanism that makes most pancreatic cancer cells susceptible to a form of programmed cell death. The team, led by Professor Dr…

New research from large population studies provides invaluable evidence on genome screening of newborn babies to reduce risks from overdiagnosis. The authors conclude that further studies are needed before such screening is rolled out.

A study led by scientists from the A*STAR Genome Institute of Singapore (A*STAR GIS) has uncovered how the gut microbiome can influence gene activity in the liver by acting on short stretches of regulatory DNA that function like molecular «switches.» B…

In the largest genetic study of inflammatory bowel disease (IBD) traits to date, researchers have identified a genetic marker associated with more severe ulcerative colitis and Crohn’s disease—the major forms of IBD.

Screening people with the rare, inherited cancer-causing condition Li-Fraumeni syndrome (LFS) brings both medical and economic benefits to patients and health care systems, according to research to be presented to the annual conference of the European …

Understanding why some people stay healthy without developing disease until late in life (have an increased healthspan), whereas others become infirm at a much younger age, has important implications for the health of today’s aging population. Life exp…

QIMR Berghofer scientists have uncovered hundreds of genes that play a role in the growth of both moles and melanoma, in a discovery that could lead to new ways of preventing and treating the deadliest form of skin cancer. The world’s largest genetics …