Autor: Clinical genetics

Activation of a specific part of the Dicer enzyme can change its shape in a way that affects its critical role in proper cell division, with implications for both cancer biology and fertility, according to researchers at The University of Texas MD Ande…

An inherited form of blindness directly comparable to a common inherited optic nerve disease in humans has been discovered in rhesus macaques at the California National Primate Research Center at the University of California, Davis. The work, published…

In two new studies, researchers at the UC Davis MIND Institute have clarified how a long-banned group of chemicals, called polychlorinated biphenyls (PCBs), affect genetic activity. The research helps explain how biological systems respond to these exp…

The quail is a small, unassuming bird that glides rather than flies and prefers to hide under bushes than to perch on top of a tree. And now, it’s also helping scientists understand serious birth defects in humans.

Decades after researchers first sequenced the human genome, scientists throughout the world are still working to understand it. Despite diligent global efforts to link uncommon variations in DNA sequences with human disease, progress has been slow, in …

A new study led by researchers at UNSW Sydney’s Center for Healthy Brain Aging (CHeBA) has identified potential biological targets that could help guide future research into treatments for vascular dementia—a common and serious yet currently untreatabl…

Researchers at University of Tsukuba have elucidated the molecular pathogenesis of multicentric carpotarsal osteolysis (MCTO), a rare hereditary disorder that frequently results in renal failure. Using a mouse model, they demonstrated that MCTO is caus…

Scientists at St. Jude Children’s Research Hospital have found that they can reverse the effects of HNRNPH2-related neurodevelopmental disorder using antisense oligonucleotides (ASOs) in preclinical models. ASOs are short synthetic nucleic acid strands…

In a new study of women in post-menopause, white women with higher genetic risk of obesity regained weight about two times faster than white women whose genetic risk was lower. Black women in the study regained weight at a similar rate, regardless of t…

Researchers at Lund University in Sweden have carried out the most detailed mapping to date of the epigenome in the cells that regulate the body’s blood sugar levels. The study, published in Nature Metabolism, shows how chemical changes to DNA affect b…