Human Molecular Genetics

Genetics

Giving silenced genes a voice

Stem cell researchers at UConn Health have reversed Prader-Willi syndrome in brain cells growing in the lab, findings they recently published in the 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.

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 ...

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