Huntington's chorea

2022 - 5 - 30

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Image courtesy of "The Hippocratic Post"

Let's talk about Huntington's disease (The Hippocratic Post)

Researchers from the University have also worked with Scottish Huntington's Association and local genetic service over a number of years to interview children ...

Scottish Huntington’s Association is the only charity in the country exclusively dedicated to supporting families impacted by Huntington’s disease. 1100 people have been diagnosed with the disease and a further 4000 – 6000 are at risk of having inherited it from their parents. Each child of a person who has Huntington’s disease is at 50% risk of inheriting the disease. Researchers from the University have also worked with Scottish Huntington’s Association and local genetic service over a number of years to interview children and young people living with Huntington’s disease. Huntington’s disease is a complex neurological condition with symptoms that typically begin to develop between the ages of 30 and 50. Although worldwide research is taking place there is no cure for Huntington’s disease. “In fact, HDYO is actually celebrating its 10th year supporting, educating and empowering young people impacted by Huntington’s disease. “One recent development was the first ever Young Adult Virtual Congress held by HDYO in March 2021 – and again in 2022 – bringing together young people from across the world to share their personal stories, educational resources and research updates. “We have continued to build our team of voluntary Youth Ambassadors and have now trained 16 young people. Dr Karen Keenan, who conducted the interviews, explains “Living with a parent who has a serious hereditary degenerative condition like Huntington’s disease (HD) can be extremely difficult for children and young people. “Families with Huntington’s disease can face considerable stigma, there are higher rates of family breakdown, and often secrecy about its existence. The team works in close partnership with families and Scottish Huntington’s Association.

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Image courtesy of "Open Access Government"

Huntington's Disease: The Importance of Brain Banking (Open Access Government)

We discussed a technique called single nuclei RNA sequencing (snRNASeq), in which we isolate the nuclei from thousands of cells from a piece of frozen brain ...

A subset of the same areas as those obtained from the unfixed half of the brain are collected from the fixed half brain and placed in cassettes for embedding in wax. The Figure shows a piece of brain tissue that includes the cingulate cortex and underlying white matter. The method the Bank uses to freeze the tissues preserves the structure of the tissue very well. The other half of the brain is immersed in a formalin solution, which is a standard fixative. The blocks are placed between Teflon-coated plates), frozen in liquid nitrogen vapor and then stored in a freezer at -80o C. In addition, we collect many other pieces that are crushed in liquid nitrogen, and stored in 2 ml vials; these samples are suitable for research that do not require integrity of the cellular morphology. In an article in Open Access Government in 2021, we described a new experimental strategy to study the brain tissues that have graciously been donated for research by Huntington’s disease (HD) patients and their families.

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