Autor: Clinical genetics

A new study has answered a question that has puzzled cancer researchers for decades: Does a genetic defect found in nearly all human colorectal cancers simply accompany the disease, or does it trigger its development? A team led by Harvard Medical Scho…

In some non-small cell lung cancers (NSCLCs), changes to the RET gene (known as RET fusions) can drive tumor growth. In a phase 1/2 clinical study with a 42-month-long follow-up period, researchers from Mass General Brigham Cancer Institute recently ev…

Psychiatric disorders, such as bipolar disorder (BD), major depressive disorder (MDD), schizophrenia and anxiety disorders, adversely affect the daily functioning and well-being of millions of people worldwide. Understanding the neural and genetic unde…

Irregular heartbeat, or arrhythmia, can be treated with various procedures or medication, but not all medications work for all patients. In fact, one arrhythmia medication can actually cause arrhythmia in people with a common genetic variant. This prob…

Follicular lymphoma (FL) is a type of blood cancer and a form of non-Hodgkin’s lymphoma. Thanks to new treatment breakthroughs, about 80% of FL patients have a survival rate of more than 10 years. The other 20%, however, experience a quickly recurring …

Damaging variants in genes involved in a rapid immune response (innate immunity) are significantly linked to earlier breast cancer onset in carriers of the harmful BRCA1 genetic mutation, reveal preliminary findings published online in the Journal of M…

Researchers at the Josep Carreras Leukaemia Research Institute have demonstrated that combining data from different origins enables a more precise characterization of cell type’s diversity into tissues and organs. The team also introduced scOMM, a new …

New twin research shows that innate IQ plays a major role in predicting your future socioeconomic status. The study, which follows twins during the crucial early adult years, reinforces the view that heredity and genes shape our life opportunities—and …

Project MinE, an international consortium co-founded by researchers at King’s College London, has identified new genetic variants that play a role in the development of motor neuron disease (MND). These findings mean that a genetic component is identif…

Hiroshima University researchers have developed a practical framework to identify candidate pathogenic variants hidden among the large number of variants of uncertain significance (VUS) detected in comprehensive genomic profiling (CGP) of cancers. This…