Genetics

Researchers find multisystem disorder caused by CCDC47 variants

Researchers and clinicians through a multicenter collaboration have identified a novel multisystem disorder caused by bi-allelic variants in the CCDC47 gene. Their findings are reported in the American Journal of Human Genetics.

Medical research

Test to save patients from invasive open biopsies

University of Queensland researchers are developing diagnostic tests for a genetic condition which can cause the body to fatally overheat while under a general anaesthetic.

Immunology

Chemotherapy-induced diarrhea traced to immune cells

Some 50 to 80 percent of cancer patients taking powerful chemotherapy drugs develop diarrhea, which can be severe and in some cases life-threatening. Their problems occur when contractions in the smooth muscle lining the ...

Neuroscience

'Second brain' neurons keep colon moving

Millions of neurons in the gastrointestinal tract coordinate their activity to generate the muscle contractions that propel waste through the last leg of the digestive system, according to a study of isolated mouse colons ...

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