Human Molecular Genetics

Genetics

Preventing 'traffic jams' in brain cells

Imagine if you could open up your brain and look inside. What you would see is a network of nerve cells called neurons, each with its own internal highway system for transporting essential materials between different parts ...

Diseases, Conditions, Syndromes

Researchers link facial structure to kidney disease

(Medical Xpress)—Researchers at King's College London's Dental Institute have shown that people with a certain kind of kidney disease have characteristic facial features that may reflect the genetic mutation they carry.

Medical research

Novel treatments emerging for human mitochondrial diseases

Using existing drugs, such as lithium, to restore basic biological processes in human cells and animal models, researchers may have broken a long-standing logjam in devising effective treatments for human mitochondrial diseases.

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

Ashkenazi Jewish founder mutation identified for Leigh Syndrome

Over 30 years ago, Marsha and Allen Barnett lost their sons to a puzzling childhood disease that relentlessly attacked their nervous systems and sapped their energy. After five-year-old Chuckie died suddenly in 1981, doctors ...

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