Our genes control part of our makeup. And we know that variations in different genes can impact whether we are more susceptible to getting certain diseases – cancer say, or dementia. This can include multiple different genes and can be tricky to untangle.
But for some people, cause and effect are more of a straight line.
In neurogenetic conditions, a variation in just one gene results in neurological symptoms – affecting the brain, nervous system or muscles.
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Neurogenetic conditions are the focus of Associate Professor Richard Roxburgh’s research at the Neurogenetics Research Clinic at the University of Auckland. Also a practising neurologist at Auckland City Hospital, Roxburgh has seen hundreds of patients that suffer from these diseases.
Associate Professor Richard Roxburgh Photo: Supplied
Being able to give a diagnosis can often be a big help for patients, he says. Because these are genetically based and passed down from generation to generation, patients will often have witnessed other family members experience the same symptoms and disease progression.
Now, he and a team of collaborators from New Zealand Clinical Research, Auckland City Hospital and the University of Auckland are working on a phase 1 clinical trial sponsored by US company Dyne Therapeutics. The trial is aimed at testing the safety of a new therapy for myotonic dystrophy, with two patients in New Zealand as the first participants in the world.
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