Medical research

Scientists create one-step gene test for mitochondrial diseases

More powerful gene-sequencing tools have increasingly been uncovering disease secrets in DNA within the cell nucleus. Now a research team is expanding those rapid next-generation sequencing tests to analyze a separate source ...

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. ...

Genetics

Faulty gene linked to condition in infants

(Medical Xpress)—Researchers at King's College London have for the first time identified a defective gene at the root of Vici syndrome, a rare inherited disorder which affects infants from birth, leading to impaired development ...

Cardiology

Research identifies a genetic cause of hypertension

(Medical Xpress)—A multinational research project led by the Universities of Dundee and Glasgow has identified a genetic determinant of hypertension (or high blood pressure), which could inform treatment of the condition ...

Genetics

Scientists deepen genetic understanding of MS

(Medical Xpress)—Five scientists, including two from Simon Fraser University, have discovered that 30 per cent of our likelihood of developing Multiple Sclerosis (MS) can be explained by 475,806 genetic variants in our ...

Genetics

Protein regulation linked to intellectual disability

Genetics researchers at the University of Adelaide have solved a 40-year mystery for a family beset by a rare intellectual disability – and they've discovered something new about the causes of intellectual disability in ...

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