Human Molecular Genetics

Genetics

A new approach to high insulin levels

Diabetes is characterised by a deficiency of insulin. Its opposite is a condition called congenital hyperinsulinism—patients produce the hormone too frequently and in excessive quantities, even if they haven't eaten any ...

Genetics

Blood test uncovers hidden diseases

Sufferers of rare mitochondrial disease have new hope with a new method developed at the University of Sydney. The method provides a diagnosis within weeks instead of months or years through a simple blood sample.

Neuroscience

Insight into brain via 'friend of fragile X' gene

We can learn a lot about somebody from the friends they hang out with. This applies to people and also to genes and proteins. Emory scientists have been investigating a gene that we will call—spoiler alert —"Friend of ...

Genetics

New biomarker found for group of rare metabolic diseases

A newly discovered biomarker associated with a rare metabolic disorder may facilitate better diagnosis and identification of new drugs for clinical trials for the disease, according to researchers in the Perelman School of ...

Genetics

Neurodegenerative disease mechanism and potential drug identified

Two new studies of progressive, neurodegenerative diseases linked to defects in cells' mitochondria offer hope for developing a new biomarker for research and diagnostics, and a drug for treating such diseases, report researchers ...

Genetics

Tea consumption leads to epigenetic changes in women

Epigenetic changes are chemical modifications that turn our genes off or on. In a new study from Uppsala University, researchers show that tea consumption in women leads to epigenetic changes in genes that are known to interact ...

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