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

New database to speed genetic discoveries

A new online database combining symptoms, family history and genetic sequencing information is speeding the search for diseases caused by a single rogue gene. As described in an article in the May issue of Human Mutation, ...

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 ...

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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