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Headlines 15 “The ultimate dream is to contribute to a screening tool for the general population.” Dr Brigid Ryan To learn more about Dr Ryan’s work, see Empowering the Mind: Understanding Young-Onset Dementia at neurological.org.nz/get-involved/lecture-library/ Results are recorded but aren’t known to the family or Dr Ryan. This ensures that assessment of symptoms isn’t influenced in any way. If a person wants to know the result, they’re advised to see a genetic counsellor to follow a clinical pathway. This decision is difficult for people to make, as the result may have implications for other family members due to the genetic link between generations. (A big part of Dr Ryan’s work is navigating ethical issues such as this to respect privacy while continuing to collect meaningful data.) The clinical testing is comprehensive and includes blood samples, changes in sense of smell, neuropsychological testing, brain imaging, changes in structure and blood flow in the retina, social cognition, memory, and hearing and balance. The last five biomarkers are subsets of the overall study and are in collaboration with other research teams, while Dr Ryan’s research team includes 13 scientists and clinical investigators. “In a nutshell, we’re measuring heaps,” says Dr Ryan, adding that this data will prove incredibly valuable. The aim is to find a strong indicator that could be used as a cost-effective and accurate test across a population. Seven years of tests have been conducted so far in this ground-breaking study. However, it’s only now that some participants are reaching their mid-50s that early symptoms are likely to start appearing. In her role as coordinator, Dr Ryan has lots of contact with the individual family members. “I get to know them really well so it’s a highlight of my work getting to see them every year.” Any findings will need to be validated in a larger cohort of patients. This will require collaboration with international groups who have bigger numbers, so FTDGeNZ is part of a consortium of studies underway across the United States, South America, Europe and Australia involving multiple families with multiple mutations, in contrast to the NZ study which simplifies research as there’s only one mutation affecting the whole group. In an ideal world, Dr Ryan would like to identify other families sharing a single mutation to expand the work underway. An advantage of this would be to have family groups that are “trial ready” if – and when – new therapeutics come along. They’d be ideal trial candidates as there would already be a considerable bank of baseline clinical data. It’s what’s drug companies are seeking when they recruit for clinical trials. Dr Ryan wants Kiwis to be at the forefront of research and thinks this could happen soon. People will always be divided on whether to find out if health problems are in store for them, says Dr Ryan, but she believes they’re more likely to want to know if better treatments become available. “The ultimate dream is to contribute to a screening tool for the general population,” she says. It could be a blood test, rolled out in a manner similar to mammogram screening, with testing likely to take place when a person reaches 40. If biomarkers can detect dementia at an earlier stage, potential therapies could be administered early – and that could make all the difference. Dr Ryan received a $243,020 project grant over four years that’s generously supported by the Withiel Fund.