Categoría: MedicalXPress

B-cell acute lymphoblastic leukemia is the most common form of childhood cancer. In this type of cancer, which affects blood cells, one of the most common abnormalities is the presence of cells with an excess of chromosomes (hyperdiploidy), a condition…

The ability of different genetic variants—changes to one or more building blocks of DNA—to cause disease, and to what extent, has historically been opaque. Geneticist and Crick group leader Greg Findlay has pioneered a new method in the hope of changin…

Organoids are miniature, simplified versions of an organ. Over the past two decades, scientists have developed them for the gut, lung, liver, mammary gland, brain, and more. Now, researchers at Yale School of Medicine (YSM) have organoid-ized the pinea…

A growing body of research shows that diabetes can be stratified into five different subgroups. Researchers at Lund University have now investigated whether a person’s genetic predisposition to different diabetes subgroups can help assess the risk of d…

An Australian-led international research collaboration has delivered a promising breakthrough in the quest to better understand and treat childhood dementia. Recently published in the journal Nature Communications, the study uncovered a fundamental mec…

Researchers have mapped how genetic switches are regulated in East Asian populations, identifying tens of thousands of unique markers linked to complex diseases. This massive dataset bridges a crucial diversity gap in genetics, paving the way for more …

Researchers at The University of Texas MD Anderson Cancer Center have discovered a new blood-based biomarker that can help identify and characterize asymptomatic people with Lynch Syndrome (LS) who are more susceptible to developing cancer based on ear…

As many as 1 in 4 cancers are driven by mutations in the SWI/SNF chromatin-remodeling complex, which controls access to DNA. A study led by St. Jude Children’s Research Hospital recently identified the gene-regulatory protein PHIP as a critical vulnera…

University of Virginia School of Medicine researchers have used an advanced gene-editing technique to correct the underlying cause of a severe form of epilepsy in lab mice. This breakthrough could one day lead to new treatments or cures.

A University of Alberta research team has found a genetic variant that can be used to identify which patients with pulmonary arterial hypertension need the most urgent care. «This could potentially save lives and health-care costs, and improve the well…