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Issue 13. 6 September 2010.pdf [PDF File, 1.7 MB] - UWA Staff - The ...

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Gypsies help glaucoma research<br />

Gypsies are helping medical researchers to pinpoint the<br />

cause of a disease that can blind babies and young<br />

children.<br />

Congenital glaucoma is a rare subtype of the eye disease, in<br />

which children are born with a raised intraocular pressure that<br />

causes glaucoma. If it is diagnosed early, it can be rectified.<br />

Otherwise, babies can go blind within months.<br />

An international collaboration which includes the Lions Eye<br />

Institute Professor of Ophthalmology, David Mackey, and the<br />

WA Institute of Medical Research’s Professor Luba Kalaydjieva,<br />

has discovered a new gene associated with congenital<br />

glaucoma.<br />

Professor Kalaydjieva has an international reputation for her<br />

genetics research into the European gypsy, or Roma,<br />

populations. And Professor Mackey is renowned for his work<br />

on the genetics of glaucoma.<br />

<strong>The</strong>y started work together last year with their research<br />

partners.<br />

“<strong>The</strong> group had already identified one gene, that was found in<br />

about 20 per cent of Australian children with congenital<br />

glaucoma,” Professor Mackey said. “A second gene was<br />

identified in families from Pakistan and India, but we couldn’t<br />

find it in European Australians.<br />

“<strong>The</strong>n Professor Kalaydjieva joined us and we found the gene in<br />

gypsy families.”<br />

Congenital glaucoma is common in the Roma population, with<br />

up to one in every 2,000 children being affected, compared<br />

with the general Australia population of one in 30,000.<br />

Professor Kalaydjieva explained that gypsies are a founder<br />

population, derived from a small number of ancestors. <strong>The</strong>y<br />

intermarry and remain relatively isolated from surrounding<br />

populations.<br />

“<strong>The</strong> resulting limited genetic diversity makes it easier to find the<br />

genes responsible for all sorts of diseases,” she said. “It is<br />

easier than using a heterogeneous population.”<br />

<strong>The</strong>re are between eight and 10 million European gypsies but<br />

probably only 200,000 Roma people in Australia, although there<br />

is no accurate census data.<br />

Professor Kalaydjieva is originally from Bulgaria and started her<br />

genetic research with Roma people nearly 20 years ago. She<br />

found that they had some diseases that were unique to them<br />

(such as the high incidence of congenital glaucoma), while they<br />

often did not suffer diseases found in the wider population.<br />

“We must be careful, with out research, not to increase the<br />

stigmas already suffered by the Roma people but, at the same<br />

time, it is good news for them that we can work out how their<br />

problems are caused and help them to minimalise them with<br />

genetic screening,” she said.<br />

Luba Kalaydjieva from WAIMR and David Mackey from LEI are<br />

collaborating<br />

Celebrate your safety<br />

Do you feel safe at work?<br />

If so, perhaps the person or team who is responsible should be rewarded.<br />

<strong>UWA</strong>’s annual Safety Awards are seeking nominations of individuals and groups<br />

who deserve to be recognised for controlling risks, identifying hazards and<br />

safety planning, training and management.<br />

Nominations of individuals and groups should be based on the criteria used by<br />

WorkSafeWA: management commitment, planning, consultation, hazard<br />

management and training. Details of these can be found on the <strong>UWA</strong> Safety<br />

and Health website.<br />

A <strong>UWA</strong> Safety Leadership Award and a <strong>UWA</strong> Safety Recognition Award are<br />

also up for nomination. Written nominations for each of the four awards must<br />

be submitted to Safety and Health by Friday October 1.<br />

<strong>The</strong>y will be announced during Safe Work Australia Week, October 24 – 30.<br />

<strong>The</strong> University Co-Operative Bookshop will again donate book vouchers for the<br />

winners.<br />

If you would like help with writing your nomination, please call Safety and Health<br />

on 6488 3938.<br />

New Courses 2012<br />

Feedback Wanted<br />

With <strong>UWA</strong> Open Day still fresh<br />

in your mind, please take a few<br />

minutes to forward any<br />

feedback on how information<br />

about New Courses 2012 was<br />

managed at this year’s event.<br />

This may include questions you<br />

were asked on the day, how<br />

useful you found the ‘Pocket<br />

Guide for <strong>Staff</strong>’ and pre-event<br />

staff forums, or a suggestion for<br />

improvement.<br />

Feedback can be emailed to<br />

publicaffairs@uwa.edu.au or<br />

contact Rachel Schmitt on 6488<br />

7241.<br />

Visit http://www.newcourses2012.<br />

uwa.edu.au/register to register for<br />

updates on the new courses.<br />

10<br />

<strong>UWA</strong> NEWS 6 <strong>September</strong> 2010<br />

<strong>The</strong> University of Western Australia

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