Neuroscience

Study offers new approach for spinal muscular atrophy

Spinal muscular atrophy is a debilitating neuromuscular disease that in its most severe form is the leading genetic cause of infant death. By experimenting with an ALS drug in two very different animal models, researchers ...

Diseases, Conditions, Syndromes

Acid reflux? It's in the genes

(Medical Xpress)—For many years it has been thought that acid reflux and a related condition called Barrett's Oesophagus were acquired conditions, via diet, smoking and other lifestyle activities. However, recent family ...

Genetics

'RNA sponge' mechanism may cause ALS/FTD neurodegeneration

The most common genetic cause of both ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) was recently identified as an alteration in the gene C9orf72. But how the mutation causes neurodegenerative disease ...

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 ...

Oncology & Cancer

Family history of bowel cancer increases odds of survival

A new study that combines genetic information on bowel cancer with NHS patient outcome data has found a link between family history of the disease and a better chance of survival, published in the British Journal of Cancer.

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, ...

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