Autor: Clinical genetics

A collaborative research study co-led by scientists at the Icahn School of Medicine at Mount Sinai and the Liber Institute for Brain Development has for the first time identified a biological process that may help explain how the brain develops differe…

A 6-year-old girl is one of more than 80 people worldwide who has finally received a diagnosis of a new condition following research by scientists and doctors in Manchester. Ava Begley’s parents say they feel «deeply grateful» that the researchers, fro…

Researchers at the Institute for Bioengineering of Catalonia (IBEC) have produced a mutational map showing how mutations in amylin—a hormone that plays a key role in glucose regulation—affect its tendency to form toxic amyloid aggregates in the pancrea…

Scientists at Houston Methodist Research Institute have discovered that a fast-rising strep bacterium comes in more forms than expected, including ones that may lead to life-threatening infections. The study, led by James Musser, M.D., Ph.D., chair of …

A newly developed AI tool can dramatically speed up the search for the genetic causes of rare diseases, a process that often takes years and frequently ends without answers. The tool analyzes how genes have evolved across many species to uncover hidden…

A collaboration between Karolinska Institutet, Karolinska University Hospital, and SciLifeLab has integrated whole genome sequencing into routine diagnostic investigations for rare diseases at Karolinska University Hospital. To date, more than 15,000 p…

Autism has a significant and enduring sex bias, with roughly four boys diagnosed for every girl. For many years, experts have believed this disparity arises primarily from diagnostic inequities because much of autism research—and the screening tools th…

Researchers at the Icahn School of Medicine at Mount Sinai in New York have identified and described a previously unknown recessive neurodevelopmental disorder (NDD) that appears to be the most prevalent ever discovered. The condition is caused by chan…

A new study, co-led by researchers at the Icahn School of Medicine at Mount Sinai and published March 30 in Nature Medicine, demonstrates that genes associated with autism risk are largely the same across people of different ancestries. The findings, b…

A new global review shows that countries are taking very different approaches to regulating polygenic embryo testing. For more than four decades, in vitro fertilization (IVF) has helped families have children. Scientists estimate that more than 10 mill…