Huntington’s Disease Awareness Month
Dr. Malvindar Singh-Bains
University of Auckland Research Fellow studying Huntington’s Disease and connecting her research to the community where it matters most.
A single typo in our genetic code can trigger a neurological nightmare that robs a person of the ability to dance, laugh and think clearly. Huntington’s disease (HD) is an inherited condition arising from one faulty gene, the Huntingtin gene. The fault lies in a repetitive sequence of DNA code; in healthy people, this sequence repeats a specific number of times. However, in the brains of people living with HD, the repetition becomes excessive, creating a mutant Huntingtin gene. The resultant protein encoded by the mutant gene builds up in the brain and causes damage to brain cells resulting in movement, cognitive and psychological symptoms.
Dr. Malvindar Singh-Bains, a research fellow at the University of Auckland and member of the ABP Future Leaders Advisory Group (FLAG) has studied how the pattern of brain cell loss in specific regions of the HD brain is linked to the different symptoms patients experience. Not all individuals living with HD have the same experiences – some people may experience challenges related to movement, cognition or personality changes. Dr. Singh-Bains' work now focuses on understanding why different regions of the brain may be more susceptible to damage and how it may differ between patients’ brains explaining the differences in disease experience.
Dr. Singh-Bains' group is the first to look into the mutant protein in the brains of individuals that lived with HD and relate the changes they find at the cellular level to the clinical symptoms the individuals experienced in life. Singh-Bains explained that this work would not be possible “without the game-changing resource” that is the Neurological Foundation Human Brain Bank and the incredible generosity of those who have donated their brains to science.
During her PhD, while presenting at a national HD conference, Dr. Singh-Bains was challenged by how she as a researcher using the brains of HD patients was going to help the next generation? As Dr. Singh-Bains explained; this was an incredibly humbling question and sparked the formation of the Huntington’s Disease Youth Organisation NZ (HDYO-NZ), a support organisation aimed to fill the gap in supporting individuals at risk of developing HD. HDYO-NZ aims to demystify and share the latest research in the HD and connect rangatahi (youth) and their whānau (families) across the country
“I want kiwi whānua to be empowered with as much information as they can, being connected to all resources available in NZ from genetic counselling and fertility advice to brain donation” - Dr. Malvindar Singh-Bains
This month HDYO-NZ hosted its first camp in Christchurch, bringing together 18 rangatahi from across the country to connect and experience fun and adventure while also learning from experts in genetic counselling and HD research. In the future, Dr. Singh-Bains hopes that HDYO-NZ can continue to provide wrap-around support to young people facing the challenges of being at risk of developing a life-altering disease while also watching loved ones going through it.
written by Courteney Westlake