A University of Auckland ‘gene team’ has launched a new research project with 20 families to find the causes of more rare genetic conditions.
Following hard on the success of a pilot project with an initial 20 families, researchers Dr Jessie Jacobsen, Professor Russell Snell and Associate Professor Klaus Lehnert from the university’s School of Biological Sciences and Centre for Brain Research are now recruiting families for their new study.
In the pilot project, from 2016–2018, the team was able to find the genes and mutations responsible for rare conditions in 14 children – a better result than they were expecting. Russell says the success rate of the first study means that clinicians have waiting lists of families who want to be involved. “There is a lot of interest out there – there is a major unmet need,” he says.
“Our discovery rate is equal to the best groups in the world and there aren’t many best groups in the world. It’s because we take a lot of care with every variant and we don’t apply carte-blanche filters.”
These scientists are gene detectives, doing painstaking work to examine DNA and find where genes might be deleted or duplicated. Klaus, a functional biologist, works to understand the molecular mechanism through which genetic variations cause disease. He uses computers to analyse large and complex data to identify these genetic variations.
Like the pilot, this latest research will be funded by the IHC Foundation. This time the Foundation is contributing $197,000, which includes funding a post-doctoral researcher to work on the project.
The team’s goal is to give children, their doctors and their families a diagnosis and a way forward. The researchers also want to build more evidence for their new cost-effective approach to genome sequencing that is achieving world-class results. How quickly the research translates into routine clinical practice will come down to advocacy by parents, clinicians and parent groups.
Jessie says traditional gene-screening approaches often fail to deliver genetic diagnoses for rare genetic conditions. “This reduces hopes for future treatments, makes assessing the risk of future pregnancies difficult, and has the prospect of lengthy and costly ‘diagnostic odysseys’.
Most participating families will be referred by their clinicians. But Jessie says families who have a child with a neurodevelopmental condition are welcome to approach them directly about opportunities to participate in the research.
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