HDSA is committed to providing individuals and families impacted by HD with the resources they need to make informed choices. As part of this mission, HDSA wants to know how HD families feel about different family planning options that can make sure HD is not passed on to future generations. Technologies like Preimplantation Genetic Diagnosis In-Vitro Fertilization (PGD-IVF) currently exist to help families to ensure that the gene expansion that causes HD is not passed on to their children. Unfortunately, there are still significant barriers to accessing this technology.

HDSA wants to hear from individuals with HD, at-risk for HD and their partners about their experiences with and thoughts about PGD-IVF, including barriers folks have faced trying to access PGD-IVF. Whether you’ve undergone PGD-IVF, considered PGD-IVF, or are just weighing out all your options, we want to hear from you. Click here to take a 5-10 minute anonymous survey to help HDSA better understand the experiences and thoughts of the HD community on the issue of PGD-IVF.

HD Buzz Reports on Gene Editing Discovery

For several years, huntingtin lowering has been a hot topic in HD research. Current clinical trials in progress through Roche Pharmaceuticals and Wave Life Sciences are testing drugs designed to decrease the amount of toxic stuff that collects in brain cells due to the HD gene. These drugs attack huntingtin RNA – the message that tells a cell to produce the huntingtin protein. 

Scientists recently reported on a new method for huntingtin lowering that attacks the HD gene itself. It’s called a zinc finger nuclease (ZFN for short) and it works like a tiny set of pliers that can grip and chop DNA. An international team of scientists sponsored by a company called Sangamo in collaboration with CHDI Foundation has been working on using this technique to manipulate the HD gene. They published their results this week in the journal Nature Medicine, showing that they can use ZFNs to lower huntingtin, and that this improved symptoms in HD mice. HD Buzz put out a great article with more details. A scientific summary of the article can be read here. This technique is not ready for the clinic just yet, but Sangamo is taking steps in that direction by partnering with a larger pharmaceutical company called Takeda. Human studies will have to move with great caution due to safety concerns, but we’re excited about this future possibility.

This Week in HD History

The exact sequence and location of the gene that causes Huntington’s disease was published in 1993, but the hunt had been on for some time. Today, anyone can search for the sequence of the huntingtin gene on the internet (in fact, here it is, if you want to scroll through a lot of A, G, C, and T), but the initial discovery was a painstaking and labor-intensive process. It’s a bit like using a map of the whole world to find one house – you’d have to use landmarks to get down to the close vicinity of the location. Perhaps first a continent, then a country, then a city, a neighborhood, a nearby park, a street name.  Similarly, researchers used landmarks on chromosomes to get closer and closer to the huntingtin gene.

In August of 1987 HD researchers led by Dr. James Gusella reached a major milestone in their search, reporting that they had found huntingtin’s neighborhood, at the tip of the 4th chromosome. It was a big step towards identifying the gene. If you want to hear from Dr. Gusella himself and see how this discovery cleared the path for today’s clinical trials, check out the research forum recorded last year at HDSA’s 2018 Convention.