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During her PhD studies, Dr Karissa Barthelson wanted to understand how mutations in certain genes cause Alzheimer’s disease. Dr Barthelson turned to the water for answers.
“I analysed the brains of zebrafish that carried the Alzheimer’s disease-causative mutations when they were young adults, which is the equivalent age of a human in their 20s,” Dr Barthelson said.
“I then looked for what different Alzheimer’s disease-causative mutations have in common, as this could be what initiates the cascade to dementia.”
This comparison of multiple mutations that cause Alzheimer’s disease, and what they have in common, inspired Dr Barthelson to ask if mutations that cause Alzheimer’s disease and a type of childhood dementia called Sanfilippo syndrome also have common effects.
It is estimated that around one in every 2,800 babies are born with a condition that causes childhood dementia. There is a large degree of overlap in the brain and behavioural changes between Alzheimer’s disease and the childhood dementias.
The molecular-level similarities between the pathologies of Alzheimer’s disease and Sanfilippo syndrome and whether these commonalties could have a shared treatment form the basis of Dr Barthelson's Race Against Dementia – Dementia Australia Research Foundation Post-doctoral Fellowship, which will fund her research into this over the next three years.
Dr Barthelson has been motivated by her personal experience with dementia to pursue this field of study.
“I’ve witnessed first-hand how devastating dementia can be to the families and loved ones of the people who live with it,” she said.
“This has driven my interest in trying to understand the molecular mechanisms underlying dementia, and how we can therapeutically intervene.”
Dr Barthelson says that the childhood-onset dementias have received little attention to date, and she hopes to change that.
“I envision that success in this project could eventually lead to new, non-invasive, and, importantly, relatively inexpensive therapeutic strategies to treat multiple types of dementia, regardless of age of onset,” she said.
Dr Barthelson’s fellowship will be undertaken at Flinders University and forms part of the Dementia Australia Research Foundation’s 2021 grant round, with more than $4.5 million in fellowship and project grant funding awarded to early and mid-career researchers thanks to the support of Race Against Dementia, the NHMRC Dementia Centre for Research Collaboration and our generous donors. To learn more about the research funded visit: www.dementia.org.au/sites/default/files/2022-02/2021_Dementia_Grants_Program_Round1.pdf
Anyone interested in learning more about joining a public advisory group for Dr Barthelson’s research please contact [email protected].