The cause of Huntington’s disease is an extra-long stretch of CAG repeats in the DNA, in a single gene called huntingtin. In the past few years, HD scientists have learned that not only is this gene too big to begin with, but those CAGs can continue to expand as a person with HD ages, in some parts of the brain and body. This is known as somatic instability, and many academic laboratories and new companies are focused on creating medicines to combat the CAG expansion process, in order to delay the onset of HD symptoms. These discoveries are possible because of the thousands of HD family members who participate in large observational (non-drug) studies like Enroll-HD. An HDBuzz article this week provides a primer on somatic instability, some recent discoveries enabling the development of therapeutics, and some of the companies working on it. You’ll want to check it out because this topic is sure to stick around as research progresses into clinical trials.  

Survey on Attitudes Towards HD Genetic Testing 

A team of researchers at the London Business School have created a study aimed at understanding people’s attitudes toward the difficult and complex decision of whether to test for Huntington’s disease. The purpose of this study is to understand people’s attitudes toward testing for HD and the psychological consequences of testing. The findings of this study could potentially help complement consulting procedure for people who have or are at risk of developing Huntington’s disease or have already developed Huntington’s disease. 

The research study is organized by Professor Simona Botti and PhD candidates Nazli Gurdamar Okutur and Selin Goksel at London Business School. The study consists of filling in a short online survey that takes approximately 10 minutes. 

 The researchers are looking for: 

• People who have Huntington’s disease 

• People who have tested positive but are not yet showing symptoms 

• People who are at risk but haven’t tested 

• People who have someone they care about who is affected by HD 

If you are 18 years of age or older and are interested in participating, please click on this link: 

Survey on Communicating Genetic Risk 

Researchers at Johns Hopkins University are conducting an anonymous, confidential online survey of people who have Huntington’s disease (HD) in their family, to better understand how individuals and families communicate about genetic risk. Please click here to view more information in the official study flyer.  

You may qualify for the survey if you are age 14 years or older and: 

• Have a family history of HD including yourself and/or other members of your family OR 

• Are or have been in a romantic relationship with an individual with HD and/or a family history of HD OR 

• Have a child or children who is/are at risk for HD or has HD 

If you are ready to participate in the survey please use the following link: