Human genetics goes to the people

Australian researchers are taking genetics to the people to better understand human pigmentation disorders and improve the quality of life for South Pacific Islanders with albinism.

The IMB team is investigating a genetic variation causing albinism characterised by fair skin and hair, and green or blue eyes. These features are very obvious in the community and occur at one of the highest rates in the world.

Project supervisor and Group Leader at the Institute for Molecular Bioscience (IMB), Dr Rick Sturm said this research was effectively taking genetics to the people by conducting real human population genetics.

"Not only does this work has the full support of the local community, including health officials and Government, it is also approved by the Red Cross, as well as University of Queensland and Australian ethics committees," Dr Sturm said.

"Albinos in this community have very pale skin, light coloured hair with blue or green eyes. Living in the South Pacific and exposed to high levels of UV radiation, these individuals are at much greater risk of developing skin cancer due to their lack of skin pigmentation and reduced access to preventative measures like sun-screen and education programs."

Research student Ms Helene Johanson returns to the South Pacific community in early November to gather more information from the population, believed to have one of the highest recorded rates of albinism in the world.

Ms Johanson said her moral obligation to the local people was greater than other population genetic studies because she had actually met the individuals involved after they asked for her help.

"Along with improving our knowledge of the genetic characteristics of albinism and other pigmentation disorders, I hope my work will eventually lead to the establishment of a community-run support group to increase awareness and understanding of albinism," Ms Johanson said.

"This project evolved out of my work in the local hospital as an Australian Volunteer Abroad, where I noticed a high number of albinos in the population.

"I approached a number of research institutions to study this observation before developing a Masters program with Dr Sturm at the IMB, one of the world`s leading experts in the genetics of skin pigmentation."

The IMB is one of Australasia`s leading bioscience research centres investigating human and animal biology and developing new drug, pharmaceuticals and diagnostics.

Media: for more information contact Russell Griggs 07 3365 1805 or Helen Weatherley 0421 056 980