Medical research

Discovery may lead to mitochndria syndrome treatment

Mitochondrial depletion syndrome accounts for about 11 percent of the cases of children born with common myopathies and a more mild form of the syndrome affecting adults. A new finding by Cornell researchers may lead to a ...

Genetics

Gene discovered for Weaver syndrome

Scientists have found a gene that causes Weaver syndrome, a rare genetic disorder that typically causes large size at birth, tall stature, developmental delay during childhood, and intellectual disability. Published today ...

Neuroscience

Rett protein MeCP2 needed for proper adult neuron function

The protein MeCP2 is porridge to the finicky neuron. Like Goldilocks, the neuron or brain cell needs the protein in just the right amount. Girls born with dysfunctional MeCP2 (methyl-CpG-binding protein 2) develop Rett syndrome, ...

Autism spectrum disorders

Researchers report success in treating autism spectrum disorder

Using a mouse model of autism, researchers at the University of Cincinnati (UC) and Cincinnati Children's Hospital Medical Center have successfully treated an autism spectrum disorder characterized by severe cognitive impairment.

Diseases, Conditions, Syndromes

5-minute screen identifies subtle signs of autism in 1-year olds

A five-minute checklist that parents can fill out in pediatrician waiting rooms may someday help in the early diagnosis of autism spectrum disorder (ASD), according to a study funded by the National Institutes of Health. ...

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