Epilepsy geneticist's contribution recognised
Genetic detective Professor John Mulley has been recognised for his lifelong commitment to the field of human genetics, in particular the role it plays in epilepsy and intellectual disabilities.
In 1995, at the University of Adelaide, Mulley led the research team that identified the first gene mutation for a type of human epilepsy. Discovery of other epilepsy genes soon followed, as did a flurry of scientific papers: more than 250 to date.
"[Back then] genetics wasn't really accepted as a cause for epilepsy. It really was a team effort because we did the laboratory work, but we relied very heavily on the clinicians who saw the patients," says Mulley.
By collecting information and blood samples from families who have a number of members with the condition, geneticists like Mulley can trace the family history of a disease.
"We used our technologies to link the [faulty] gene to a certain part of chromosome 20, using markers, but at that stage we only knew about three genes in that area ... of those three genes, one happened to have the mutation," says Mulley.
"Several genes followed and they all turned out to be ion channel genes." These are genes that, when mutated, can disrupt the electrical signalling in the brain.
Better diagnosis, treatment
Mulley says the genetic information "helps clinicians to better diagnose cases where it's unclear which epilepsy they have or to give useful information to the family about their risk of transmitting a disease."
And that is what Mulley finds most satisfying.
"The reward is to be able to provide information to the health professionals that counsel the families. Before, these families had no concrete information about the cause of what was happening to them," he says, adding that having a scientific basis for a condition helps to remove the associated stigma.
According to Mulley, epilepsy affects three per cent of the population at some stage in their life, but that only a small proportion of epilepsies are caused by single gene mutations.
"The vast majority of epilepsies are caused by several genes acting together," he says.
Some of these genes are now beginning to be identified and Mulley believes the next ten years will "fill in many of the gaps."
He says identifying other epilepsy-related genes will not only improve the understanding of the mechanisms of epilepsy, it will provide a basis for the design of new drugs.
Mulley is planning to retire at the end of the year having handed over control of the laboratory to his second-in-charge.
He plans to spend more time in his backyard where he breeds and keeps more than a hundred budgerigars. It's still genetics, but of the avian kind.