What's the buzz

What's the buzz

Smart kit that detects genetic disease risk

A new do-it-yourself DNA kit, set to be launched by an Australian company, will allow couples to find out if they could pass on a genetic disease to a baby.

In January, Sydney-based company Luminesce began offering direct-to-consumer genetic testing of the risk of developing cancers, heart disease, type 2 diabetes and other diseases.

It will release a pre-conception testing kit in six months, allowing expecting and prospective parents to find out if they possess genes that make them carriers of about 250 recessive genetic diseases, including cystic fibrosis, spinal muscular atrophy, Tay-Sachs disease and Bloom syndrome. Clients send a sample of their saliva to the company, which tests the DNA in their laboratory and posts the results online. Louise Shepherd, the director of marketing and stakeholder engagement, said the tests would give prospective parents options in family planning.

Eye test that predicts danger to diabetic patients

A simple eye test can be used to diagnose nerve damage associated with diabetes - the most common cause of foot ulcers and amputations. Nerve fibre damage is typically assessed through invasive tests, including nerve and tissue biopsies.  Now, Nathan Efron at the Queensland University of Technology in Brisbane, Australia, and colleagues have developed a non-invasive alternative.

Diabetes affects peripheral nerves, but Efron suspected that it might also leave a signature in the cornea - the most densely innervated tissue in the body. He has now shown this is true using a corneal confocal microscope: on average, the corneas of diabetic people with nerve damage have a lower density of nerve fibres, and nerves are shorter than in healthy controls.

Peripheral nerves lose their function in people with diabetes because excess glucose in the blood reduces blood flow to arms and legs. Initially, it was thought that diabetes affected only these peripheral nerves. So to find that cranial nerves - such as those supplying the eye - were degenerating as well was a surprise, Efron says.

High-altitude living cuts heart diseases

A new study has found that people living at higher altitudes have a lower chance of dying from ischemic heart disease and tend to live longer than others. The study was conducted by researchers at the University of Colorado School of Medicine in partnership with the Harvard School of Global Health. “If living in a lower oxygen environment such as in our Colorado mountains helps reduce the risk of dying from heart disease it could help us develop new clinical treatments for those conditions,” said Professor Benjamin Hourigan.