Medical research

Rare genetic disease opens new door to treating cancer

(Medical Xpress) -- Researchers investigating the genetic cause of a disease in just two patients have made an unexpected finding which has opened a major new possibility for treating serious diseases such as cancer.

Autism spectrum disorders

Whole-exome sequencing identifies inherited mutations in autism

While autism clearly runs in some families, few inherited genetic causes have been found. A major reason is that these causes are so varied that it's hard to find enough people with a given mutation to establish a clear pattern. ...

Diseases, Conditions, Syndromes

Faulty gene regulation triggers the kidney disease FSGS

The Clinical Institute of Pathology at the MedUni Vienna has discovered a previously unknown mechanism in the regulation of gene expression that leads to the development of a chronic renal condition known as focal segmental ...

Genetics

Rare muscular dystrophy gene mutations discovered

(Medical Xpress) -- Research co-led by Radboud University Nijmegen Medical Centre and the Wellcome Trust Sanger Institute has revealed gene mutations that account for 15 per cent of all babies born with Walker-Warburg syndrome, ...

Genetics

Variants in non-coding DNA contribute to inherited autism risk

In recent years, researchers have firmly established that gene mutations appearing for the first time, called de novo mutations, contribute to approximately one-third of cases of autism spectrum disorder (ASD). In a new study, ...

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