Breakthrough may improve glaucoma treatment

Scientists have discovered genetic variants that should improve diagnosis and treatment of the eye disease glaucoma.

A trio of studies published in the journalNature Genetics by separate groups of researchers found telltale variants on genes that also play a role in regulating cholesterolin cells and in an age-related arterial disease, atherosclerosis.

A variant in one of the genes, called ABO, also seems to be more common in people with blood group B, the authors reported.

The flaws came to light in a minute trawl through the genome of tens of thousands of people in more than half a dozen countries, comparing the DNA of those with glaucoma against those who were otherwise healthy.

More on glaucoma

Glaucoma – the leading cause of irreversible eye disease in the world – is caused by damage to the optical nerve, usually by a build-up of fluid pressure in the eyeball.

Early diagnosis is vital, as the damage can be averted if treated early enough. Spotting patients who are genetically more at risk would therefore be a plus.
Further work on exactly how faulty genes cause glaucoma could also lead to better treatments, the scientists said.

“Although eye drops are already available to treat glaucoma, these are not always effective,” said Chris Hammond, a professor at King’s College London.

According to the UN’s World Health Organisation (WHO), 4.5 million people around the world have become blind through glaucoma, with the disease accounting for around one in eight of cases of blindness.

Blind Computer Scientist

Blind computer scientist makes the impossible possible

2015-09-17 21:00

Tammy Petersen, News24

Blind computer scientist 22092015

Rynhardt Kruger (Tammy Petersen, News24)


Cape Town – Rynhardt Kruger’s fingers glide swiftly across the screen as he accesses his messages on his smartphone. But instead of focusing on the handset, he listens to a voice reading the icons he hovers over.

Kruger may be blind, but he points out that the inability to see does not mean he has to be left behind by advances in information technology.

The 25-year-old student is the first blind person at Stellenbosch University to obtain both his BSc honours and master’s degrees in computer science and is currently pursuing a PhD with a special focus on assistive technology.

“This is any technology that a disabled person can use to accomplish things which a non-disabled person can do,” he explained.

“When discussing information technology, people often describe how it made their lives more convenient or how they can instantly communicate with anyone, anywhere in the world. Not often discussed, though, is how advances in information technology make the lives of people with disabilities a bit easier.”

Kruger, who was born blind, said he initially wanted to make music his career.

“I played the piano and the violin – well, I tried – until my parents made the mistake of giving me a computer in Grade 7,” he joked. “In the beginning, I got lost in the start menu.”

Fascination with technology

But this didn’t end his fascination with technology. Kruger, who uses a screen reader that reads content from the screen out loud, was later introduced to audio games but instead of playing them, he was more interested in how they were created.

“I bugged people to get me books about programming and also managed to get one at my school library. The only problem was it had been published in 1969. Nevertheless, I borrowed it.”

In Grade 10 he started attending afternoon computer classes at a nearby mainstream school and decided that he wanted to make this his career.

People are surprised by the ease with which he uses technology, Kruger said.
“I am often asked how I use a computer and whether I have a special keyboard. To a large degree I use a computer in the same way as anyone else.

“In my case a special keyboard is unnecessary. Since the normal keyboard layout stays the same, one only has to memorise it once.”

For his Honours project, Kruger designed a computer programme that allows blind musicians to study music on a computer.

Developed programme for blind users

Last year, for his Master’s degree, he helped develop a programme for blind users that enabled independent navigation through virtual worlds.

“I used a computer extensively during my studies, for writing assignments and reading all course material. This included slides and articles, but also textbooks and even exam papers.

“This is easy when the material is textual in nature, since text is typically encoded in a standard way, and can be easily read by a screen reader,” he explained.

“However, my studies also required me to read and write mathematical content. It does not have a standard digital encoding, and therefore screen readers at the time had considerable difficulty in reading it.”

Kruger explained he was fortunate that all his lecturers were LaTeX users, a system whereby mathematical content and other scientific documents can be written using only textual conventions.
Once completing his studies, he plans to go into computer research.

“I am really interested in focusing on assistive technology. In South Africa, studies into this field are really limited. The barrier for a blind person in all spheres of life is accessibility of information.

“New technology doesn’t only make things more convenient for people with disabilities, but also makes the impossible possible.”