While some diseases and disorders can be easily attributed to specific genetic mutations, for many diseases—especially neuropsychiatric ones—the causes are much more complicated, influenced by both genetic and environmental factors. A new study at the […]
Researchers at Karolinska Institutet have shown in a new study that genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability. These findings are published in Genetics in Medicine.This article was originally […]
In a large international study, researchers at Uppsala University have identified DNA regions that are associated with physical activity or leisure screen time. The findings, published in Nature Genetics, confirm that physical activity is beneficial […]
Results of a small, but unique research study, led by researchers from the Seaver Autism Center for Research and Treatment at Mount Sinai and published online in Human Genetics and Genomic Advances, suggest that low-dose […]
Researchers from Children’s Hospital of Philadelphia (CHOP) have used advanced three-dimensional mapping techniques at a microscopic level to identify a multitude of genetic variants and corresponding target gene pairings in the pancreas that are implicated […]
Massive, repetitive stretches of DNA in the human genome may harbor hints about the onset of a rare, inherited neurodegenerative disorder called ataxia-telangiectasia as well as other related diseases, a new Yale School of Medicine […]
New research from Virginia Commonwealth University’s School of Pharmacy brings the medical community closer to identifying children with the highest need for treatment and intervention following traumatic events.This article was originally published on MedicalXpress.com
A large international team of researchers has conducted a genotypic spectrum analysis for uncombable hair syndrome (UHS) and in so doing has found two pathogenic missense variants in PADI3 that account for the majority of […]
As public health officials around the world contend with the latest surge of the COVID-19 pandemic, researchers at Drexel University have created a computer model that could help them be better prepared for the next […]
Researchers have developed a new method to identify people who are at greater genetic risk of developing Alzheimer’s disease before any symptoms appear—which could help speed creation of novel treatments. Manish Paranjpe of the Broad […]
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