Scientist with Huntington's gene dedicates life to curing fatal disease he'll one day develop

Scientist Jeff Carroll was told by his colleagues that he didn’t have to devote his life to Huntington’s disease.

His grandmother and mother both died from the genetic condition. As a carrier of the gene mutation himself, it was guaranteed that he would one day develop it as well.

Carroll, 48, says he's experienced signs of Huntington’s, but is not yet suffering from the disease. Still, he knows its only a matter of time.

So he decided to dedicate his life to finding a cure .

“I’ll be thinking about it anyway,” Carroll, an investigator at the Seattle-based Allen Institute, told As It Happens host Nil Köksal. “I might as well do something useful with all this anxiety.”

Now, Carroll is helping to lead the Brain Health accelerator, an international research initiative announced Tuesday that aims to improve understanding about how brain diseases develop and advance treatment options.

Based out of the Allen Institute, a non-profit bioscience research centre, the project brings together researchers from around the world to tackle some of the most complex and devastating neurological diseases.

It is backed by a $400 million US investment, including $200 million from the Allen Institute, $100 million from the family of Amazon founder Jeff Bezos family, and $100 million from Amazon Web Services, National Institutes of Health and EverythingALS.

Currently, the Brain Health accelerator is focusing on a handful of neurodegenerative diseases, including Alzheimer's, Parkinson’s, Huntington’s, Lewy body dementia and ALS. Researchers hope success in those areas could eventually support work on epilepsies, brain tumours, and neurodevelopmental or neuropsychiatric disorders.

The initiative aims to move beyond traditional neuroscience research by prioritizing studies on human tissue rather than relying heavily on animal models, in the hopes of producing findings that are more relevant to human disease and more rapidly translated into therapies.

“All diseases deserve treatment and research,” Carroll said. “But what’s especially horrible about these diseases is that they really strike at the core of who we are as people.”

Carroll watched Huntington’s disease gradually erode his mother's ability to work, keep her temper, and communicate effectively.

“Our brain is the seed of all of those things,” Carroll said.

Dr. Michael Hayden, a pioneering Huntington’s disease researcher at the University of British Columbia (UBC) and Carroll’s mentor, said the consequences for families can be profound.

“It’s a devastating disease, and it really robs you of your humanity,” he said. “The cycle of destruction in families feels like a black cloud threatening to smother them.”

UBC's Centre for Molecular Medicine and Therapeutics is home to the HD Biobank, which Hayden says is the largest collection of postmortem Huntington’s disease tissue.

With more than 300 donated brains available for study, it shares biological samples with researchers around the world, and these samples could be used by scientists with Brain Health accelerator.

Despite decades of research, effective treatments for many neurodegenerative diseases remain elusive.

Carroll says limited access to tools and technology have stalled researchers approaching these diseases in an addressable way. Researchers have retreated into model systems using cells or mice which continue to yield low success rates in developing new therapies.

“We have cured many, many mice of Huntington’s disease, Alzheimer’s and Parkinson’s, but none of that has translated into humans,” Carroll said. “We have to admit collectively that we haven’t been doing it right.”

Carroll's path to Huntington's research began at Hayden's UBC lab.

"He came to me initially knowing that he carried the mutation for Huntington’s disease, and wanted to join the lab to try and do something to develop new approaches,” Hayden said.

Hayden, who founded the lab in the 1980s, said he initially hesitated before bringing Carroll on board because of the emotional stakes involved.

“I thought about it a lot because it’s quite complicated,” he said. “What happens if we’re not successful? What happens if he’s not able to achieve his goals? How will he cope with this?”

After discussing the decision with Carroll, Hayden says he felt assured that he was “resilient” and “committed,” and welcomed him under his wing.

Researchers involved with the Brain Health accelerator aim to expand scientific understanding enough to begin human trials by 2031, and Carroll expects to be part of that effort.

Over the years, he has participated in numerous observational studies as both a scientist and someone living with Huntington's gene mutation.

Hayden said the initiative's goals are ambitious, but warned that moving from treatment identification to regulatory approval can take 10 to 15 years and cost up to a billion dollars.

Still he says, it's worth pursuing.

“We have to be very cautious about raising too much hope,” Hayden said. “But we need to be hopeful … that we can make insights that in the long run will identify new targets for treatment.”

Because Huntington’s disease is genetic, Carroll and his wife, Megan, participated in a trial of preimplantation genetic diagnosis (PGD), an in-vitro fertilization procedure that screens embryos for Huntington's mutation before implantation.

In 2005, Carroll’s twins became the first successful commercial PGD births in British Columbia. Neither inherited the gene mutation for Huntington’s.

While advances such as PGD can prevent the disease from being passed to future generations, Carroll says they do little for other brain diseases that develop over time, or people currently carrying neurodegenerative genes, like himself.

“We owe this generation our best work towards a cure," he said.