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A recently established genetics division at the Telethon Institute for Child Health Research is on the hunt for bright research students keen to undertake studies into problems ranging from ear infections to exotic tropical diseases.

Professor Jenefer Blackwell, a PhD graduate from UWA in 1974, returned from Cambridge University last year to set up the Division of Genetics and Health.

She was the founding director of the Cambridge Institute for Medical Research, where she had a large program of tropical medical research, using genetics to understand susceptibility to infectious diseases.

“Genetics is a major tool now in any epidemiological study of any disease,” Professor Blackwell said. “We can add genetics in now because we can measure variations across the whole genome.”

The division is seeking students who may wish to do an Honours, Masters or Bachelor of Medical Science degree next year. They are also targeting potential PhD students for the following year.

Her team at TICHR is conducting several international research projects that span Brazil, Sudan, USA, Vietnam, Europe, Hong Kong and India.

The team includes Senior Research Fellow Dr Christopher Peacock, Research Fellow Dr Sarra Jamieson and Bioinformatician Richard Francis, all of whom were recruited with her from Cambridge.

They are continuing their tropical disease research, which includes studies into leishmaniasis, a major parasitic disease that is transmitted by the bite of the sandfly and kills a large number of people annually in the tropics.

They have a large project with the Cambridge Institute for Medical Research and the Wellcome Trust Case Control Consortium, in which 5000 DNA samples from patients with the disease, and controls, in India, Sudan and Brazil are being studied using the latest SNP (single nucleotide polymorphism) chip technology.

“We look at about 600,000 polymorphisms (genetic changes or variations) across your genome on one chip so we will be getting all the data from that,” Professor Blackwell said.

“Different people respond differently to parasitic infections or autoimmune diseases. So if you can map the genes that vary between people in terms of making some more resistant to those diseases and some people more susceptible, then you can understand the mechanism.”

The information potentially will help with intervention – the development of new therapies or lifestyle changes such as diet. Professor Blackwell retains a position at the Cambridge Institute as Honorary Senior Scientist and Affiliated Principal Investigator and apart from continuing with the UK collaborative studies, she has set up new studies at TICHR.

“One we are collecting a large number of samples for at the moment is a family study of otitis media in WA children,” she said. The study is cross-cultural and includes Indigenous and non-Indigenous family-based sampling.

“Again, we are using genetics as an approach to try to determine why some children are more susceptible to ear infections and get worse cases... than other children. It is another disease which is quite highly heritable.”

Those found to be at higher risk for the condition because of their genes could be counselled to avoid known risk factors or have drugs targeted more specifically to their needs.

Another of the team’s studies is into toxoplasmosis, a parasitic infection that can cause stillbirth or miscarriage in pregnant women and eye or brain disease in congenitally infected babies.

They have discovered a gene that appears to be responsible for the fact that some people are more prone than others to the disease.

The team is also pursuing research into hypospadias, or malformation of the penis.

“It seems to be very much determined by the mother’s exposure to phyto-oestrogens in the environment,” Professor Blackwell said.

In the study, Dr Jamieson is looking for gene by environment interactions that determine the rising rates of hypospadias in WA.

-By Cathy Saunders