Drug hunters have been particularly interested in the repeating C-A-G letters of genetic code that lead to Huntington’s disease (HD). The number of CAG repeats gets bigger in vulnerable brain cells over time and may hold the key for slowing or stopping HD. Many scientists have been asking what happens to HD symptoms if we stop this expansion. Recent work from a group in London led by Dr. Gill Bates examined exactly this, seeking to define the threshold of CAG repeats needed to cause disease. Let’s discuss what her team found! We’re all just alphabet soup The genetic code of every living organ ..read more

Enroll-HD RNA collection initative launched April 12, 2024 The Enroll-HD RNA collection initiative is now active! This initiative aims to create a high-quality, longitudinal RNA collection from at least 3,000 people with HD. Individuals across all stages of the disease life-course will be included, with a primary focus on premanifest and early manifest participants. Each participant will be followed up over a period of five years. The first blood sample gathered under this initiative was collected from an Enroll-HD participant on Feb 28, 2024, at the George Huntington Institute in Muenster ..read more

A recently published collaboration between academic researchers and pharmaceutical companies was successful at detecting huntingtin in tears. The scientists were looking for a new, easy way to track Huntington’s disease (HD). If you don’t mind shedding a tear or two, they found it! Biomarkers – biological metrics in tune with disease progression Tracking disease progression is not only medically important to ensure patients are living a healthy life, but it’s also important for developing medicines for diseases like HD. Biological metrics that are in tune with disease progression are called b ..read more

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Long repetitive sequences of C-A-G letters in the DNA code are associated with at least 12 genetic diseases, including Huntington’s disease (HD). A group of scientists in Massachusetts, USA, have recently developed a new genetic strategy to study how CAG repeats can lead to harmful proteins being made in cells, causing cells to become unhealthy. Their findings showed that expanded CAG repeats can interfere with a process called ‘splicing’, which chops up and organises genetic message molecules before they are turned into proteins. CAG repetition Our DNA is a genetic code that holds instructio ..read more

In two recent studies, researchers looked at how different parts of the brain are affected by CAG expansions in Huntington’s disease (HD) at the level of individual brain cells. The scientists looked at post-mortem brains from people with and without HD to track molecular changes in different brain regions called the cortex and striatum. These studies have provided new insights into what contributes to HD. Let’s get into it! Specific brain areas are prone to damage in HD For a long time now, we have known that some areas of the brain are affected more than others in people with HD. Specific t ..read more

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HDBuzz is back for the last day of the CHDI HD Therapeutics Conference: Thursday February 29th in Palm Springs, California. This article summarizes our real-time updates of the conference in community-friendly language. From genes to medicines The morning session will focus on how human genetics is driving the development of therapeutics. “Genetic modifiers” are genes that influence when HD symptoms onset, and human data is extremely valuable to discover new drug targets. Scientists can only find these modifiers when they have access to huge amounts of genetic data, so every single person fro ..read more