Imagine a cure for dementia – how medical research holds the keyby Noted
A family with a 50/50 chance of dementia forms search for earlier detection and treatment.
An Auckland researcher has just been granted $200,000 to further the quest to identify dementia years or decades before clinical diagnosis, with hope that early intervention is possible.
“We’re trying to find a way to determine who is in the very early stages of dementia before they have any of these clinical symptoms,” Dr Brigid Ryan explains.
“Then potential treatments that come along, or that already exist, could be trialled in those people.
“Treatments have been tested on humans and failed. Possibly we’re just giving them too late in the disease. If we were able to give that treatment 10 or 20 years earlier, then maybe those treatments might actually be helpful.”
Dr Ryan has been awarded an Auckland Medical Research Foundation Postdoctoral Fellowship, and her team of 13 at the University of Auckland is working with an Auckland family that has a rare form of early onset dementia that manifests as early as in their mid-50s.
Aware dementia ran in the family and wanting to help future generations, when the matriarch passed away she donated her brain to the Centre for Brain Research.
Research identified her frontotemporal dementia was caused by a genetic mutation traced back to Wales in 1200BC. It is also shared by 27 other families around the world, with a prevalence that is second only to Alzheimer’s in those with dementia aged 50-65.
Her relatives have a 50/50 chance of getting it. Four of her six siblings and her father had it. There are more than 25 children in the next generation, with another two generations below them. Who carries the genetic mutation is not divulged.
“We’re working with around about 25 people, aged between 25 and 59. By testing for the gene, we can identify people who are perfectly healthy today, that we know in 10, 20 or 30 years are definitely going to develop dementia,” Dr Ryan says.
“The family members who carry the gene that are in that older age are probably quite close to developing the disease. These are the people in whom you can actually tell that they’re going to develop dementia much earlier than they develop clinical symptoms. We’re trying to look for potential tests that we could do which identify the really early stages of dementia.”
Dr Ryan’s work with this family is unique, as researchers around the world have not had access to families who have the gene mutation, instead working with smaller groups of people who are not related.
The research requires the family to undergo annual tests at the university including neuropsychological assessments on their thinking abilities to look for any subtle changes. They test their sense of smell, as there is evidence it is affected early in other diseases, such as Alzheimer’s and Parkinson’s. Eye exams look for changes in the retina and blood tests are conducted to look for any markers that could lead to a blood test that determines the risk of dementia. Findings may also be beneficial for researching Alzheimer’s.
With a grandmother who has dementia, Dr Ryan knows first-hand how difficult it is to see someone you love lose themselves to the condition, and is mindful it is much harder to see this happen earlier in life.
“It is all so much more affecting for these people, because they’re still bringing up children, and still have jobs. It has much more of a profound impact on them.
“Working with this family is really motivating. It’s hard to come to terms with knowing the people you are getting to know are eventually going to be struck by this disease. But having a personal connection makes it much easier to understand just how profoundly affecting dementia is.
“Whenever any of us spend time with the family we come back to work just buzzing to carry on, because it’s really valuable having their input.”
Dr Ryan says an analogy she heard is that current dementia treatment is like trying to stub out a match when the forest fire has already been lit. “We need to stop the fire from being lit in the first place.”
Being able to research this family gives the team the best chance yet of making a positive difference. However the longevity of the project relies solely on funding. Dr Ryan estimates half her time is spent in the lab, the other half sees her co-ordinating the team and applying for more grants.
“It’s really vital to have this support from Auckland Medical Research Foundation. We really want to follow this family for as many years as we can, so that we can see what changes are happening inside of them as the disease progresses.”
What is frontotemporal dementia?
Frontotemporal dementia is the second most common type of dementia in people 55-65, second only to Alzheimer’s. It has a higher prevalence of genetic mutations, meaning it is more likely to be passed down through generations.
• Short-term memory loss
• Behavioural changes – becoming less inhibited, losing social graces (e.g. swearing in public)
• A loss of empathy
• Apathy for things they used to enjoy
• Poor personal hygiene
“Sometimes that’s just passed off as strange behaviour when you get a bit older,” Dr Ryan says. “But it quickly becomes apparent that it’s more serious than that.”
Invest in the search for a cure
Public donations are vital to funding medical research. To find out more about research projects the Auckland Medical Research Foundation invests in, go to www.medicalresearch.org.nz.
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