Researchers from The Hospital for Sick Children (SickKids) have uncovered new genes and genetic changes associated with autism spectrum disorder (ASD) in the largest autism whole genome sequencing analysis to date, providing ...
Nov 10, 2022
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A decrease in protein synthesis in the cells of the developing gut contributes to a rare genetic disorder, and an inexpensive nutritional supplement may help reverse that decrease, according to a new study by Yun-Fei Li of ...
Nov 1, 2022
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Scientists have developed a research method that allows for a much more detailed examination of the brain processes involved in some neurological and mental disorders. This is achieved by growing human cortical organoids ...
Oct 12, 2022
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By combining traditional eye imaging techniques with adaptive optics—a technology that enhances imaging resolution—researchers at the National Eye Institute (NEI) have shown for the first time how cells across different ...
Sep 14, 2022
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A global collaboration involving the Sunshine Coast Health Institute (SCHI) and the University of the Sunshine Coast (UniSC) has made a breakthrough discovery that could fast track diagnosis and support for families affected ...
Aug 19, 2022
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Imagine a patient with a rare genetic disorder that makes their arms and legs have imprecise and slow movements. For years, the patient has faced serious restrictions in day-to-day life. They tried several treatments, but ...
Aug 12, 2022
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Autism Spectrum Disorder (ASD) is referred to as a "spectrum" because clinical features of ASD range from mild social impairments in some people to severe intellectual disability or epilepsy in others. Genetic studies have ...
Jun 2, 2022
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Some rare cases of higher genetic mutation rates in children, known as hypermutation, could be linked to the father receiving certain chemotherapy treatments, new research has found.
May 11, 2022
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"Mr. and Mrs. Smith, we finally have an answer for you." The couple, whose real names we are protecting for privacy, looked at me anxiously. I had been evaluating their young daughter, Sally, in my role as a medical geneticist ...
Apr 20, 2022
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A clinical trial at UC Davis Health and six other sites showed that a cellular therapy offers promise for patients with late-stage Duchenne muscular dystrophy (DMD), a rare genetic disorder causing muscle loss and physical ...
Mar 10, 2022
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