Women in Genetics – from Genomes to Zebrafish “Discusstation”

Five of New Zealand’s leading genetic scientists

October 29, 2014.

A capacity crowd of 120 – with many more turned away – spent two hours listening to and asking about the latest research being undertaken by five of the more than 260 genetics researchers who are part of Genetics Otago, based at the University of Otago.
Dr Julia Horsfield spoke about understanding human disease processes through researching zebrafish, which share many of the same genes as humans and whose transparent eggs allow her to observe the very beginnings of life and changes over time. Studying malfunctions and manipulating small changes in zebrafish RNA can lead to not only finding the causes of disease, but also possible therapies.

Associate Professor Lynette Sadleir said that 70% of epilepsy was now thought to have a likely genetic cause. Finding the genes that cause epilepsy allows the development of targeted treatments and may in future stop epilepsy developing altogether. Collaborating closely with the University of Melbourne’s Epilepsy Research Centre, Sadleir discovered many individuals of large families who had epilepsy had the sodium channel gene, SCN1A. Subsequent study of children with a severe type of epilepsy, known as Dravet Syndrome, found this gene was the cause in 80% of cases. In addition, research has shown that most children who develop severe epilepsy following vacination actually also have a mutation in this gene. This means that the claim that the whooping cough vaccine causes epilepsy is not correct – it is purely a trigger for the fever, which then induces the child’s first seizures.

Dr Elizabeth Duncan, despite not liking honey herself, is studying bees to see what lessons their genes might offer for understanding how what a mother eats while pregnant affects her offspring’s later health. The Queen bee puts out pheromones that suppress reproduction and alters the behaviour of worker bees. Removing her lets worker bees develop ovaries and lay virgin eggs. Dr Duncan used a drug developed to treat Alzheimers to clear the signalling pathway in a similar manner. She is also working with pea aphids to see if the same works in rats, mice and sheep – and if so, it could provide an important clue for human fertility also.

Dr Anita Dunbier revealed that a study of nuns showed that lots of reproductive activity was perhaps the best prevention technique for breast cancer, the most common cancer in women. Cancer cells are “like teenagers out of control,” doing things, going places and growing faster than they ought. Her research in personalised medicine helps identify therapeutic drugs and tests for cancer genomes. This can, for example, identify people who are more likely to suffer recurrence, and therefore need more aggressive treatment.

Dr Christine Jasoni told the audience that each brain has as many connections as 1 million Milky Ways worth of stars – which is why each of us is unique. So, while genetics provides us each with a blueprint, it is how we interact with our environment that helps determine how we develop. Our mother’s health during pregnancy help determine fetus’s brain and later health across the spectrum. Biopics of fetal mice brains show that axons are not created at nearly the same rate in foetuses of sick mums, because genetic changes mean they cannot produce the proteins. This suggests guidelines for at risk mums and early detection of at risk children to get them treatment early can help give them neurologically more normal lives. “Genetics loads the gun, the environment pulls the trigger.”

 

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