Organization changes name to Huntington’s Disease Foundation
Former Hereditary Disease Foundation will retain focus on genetic disorder
The Hereditary Disease Foundation (HDF), committed to advancing research on Huntington’s disease (HD) and potential treatments, has changed its name to Huntington’s Disease Foundation.
“This name change is more than symbolic — it is a powerful reaffirmation of our purpose,” Meghan Donaldson, Huntington’s Disease Foundation CEO, said in a foundation press release. “As a member of an HD [Huntington’s disease] family, I know firsthand the urgency of our mission.”
The foundation funds researchers worldwide through various awards and grants, investing over $15.5 million in these efforts since 2020. Currently, no approved therapies can stop or slow the progression of Huntington’s, so much of this research focuses on developing new treatments or a potential cure for the neurodegenerative disease.
Doctor established foundation in 1968 after wife’s diagnosis
Huntington’s is caused by excessive repeats of three building blocks of DNA — C, A, and G — in a section of the HTT gene, which contains instructions for cells to manufacture the huntingtin protein.
As a result of this type of mutation, huntingtin is abnormally long and forms toxic clumps in nerve cells, causing damage. This can lead to symptoms including motor disorders and cognitive changes.
Huntington’s is inherited in an autosomal dominant manner, meaning that inheriting one mutated HTT gene copy is sufficient for a person to develop the disease. Given that everyone inherits two copies of the HTT gene — one from each parent — biological children of people with Huntington’s have a 50% chance of developing the disease themselves.
Milton Wexler, PhD, founded HDF in 1968 after his wife received a Huntington’s diagnosis. Although researchers knew that the neurodegenerative disease was inherited, the underlying genetic cause hadn’t yet been discovered. About a decade later, his daughter, Nancy Wexler, PhD, led one of the foundation’s early research efforts — the Venezuela Project.
Working with an international team, Nancy Wexler collected clinical data from thousands of people with Huntington’s and their families. Over 22 years, the group identified a large Huntington’s family, mapping relationships across 10 generations and more than 18,000 people.
The Huntington’s Disease Foundation will continue driving research forward with the goal of bringing real treatments to the HD community.
In the 1980s, the Gene Hunters, another HDF-funded collaborative research group, used the Venezuela Project data to investigate the genetic origins of Huntington’s. This team helped identify the HTT gene, contributing to our modern understanding of the disease — and of genetics more broadly.
Today, the foundation continues to fund research through several grant mechanisms. The largest grants are the HDF Transformative Research Awards (TRAs), where one investigator receives a two-year grant of $1 million each year.
This year’s TRA awardee was Christopher E. Pearson, PhD, a geneticist at The Hospital for Sick Children in Toronto. Pearson and his collaborators are developing small-molecule therapies that aim to shrink the CAG repeat expansions in HTT that lead to Huntington’s. These potential disease-modifying treatments could theoretically slow Huntington’s progression or prevent its onset.
In addition to funding research, HDF organizes scientific conferences, workshops, and a support program for young investigators. It also regularly holds public webinars about Huntington’s research breakthroughs. The next webinar, titled “Future Leaders in Huntington’s Disease Research,” will be held Nov. 18.
“The Huntington’s Disease Foundation will continue driving research forward with the goal of bringing real treatments to the HD community,” Donaldson said.
About the Author
