Genetics

Zinc could treat a rare genetic disorder

Pediatric encephalopathies of genetic origin cause severe motor and intellectual disabilities from birth. One of these diseases, first identified in 2013, is caused by mutations in the GNAO1 gene. In order to understand the ...

Ophthalmology

High-tech imaging reveals details about rare eye disorder

Using a new imaging technique, researchers from the National Eye Institute have determined that retinal lesions from vitelliform macular dystrophy (VMD) vary by gene mutation. Addressing these differences may be key in designing ...

Genetics

Researchers find that RNA exosome is key for B cell development

New research from UT Southwestern suggests that RNA exosomes—the cellular machines that degrade old molecules of RNA—play a key role in the development of B cells, which are critical to the immune system's ability to ...

Genetics

Broad spectrum of autism depends on spectrum of genetic factors

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 ...

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