- Researchers are looking at the CRISPR gene-splicing technology to see if it can be used to treat dementia as well as amyotrophic lateral sclerosis (ALS).
- Scientists say the technique could be used to alter DNA and repair gene mutations that cause these diseases.
- The research is in the early stages with human trials not expected for another year or two.
At her lab on the campus of the University of California San Francisco, Dr. Claire Clelland is working to find cures for neurodegenerative diseases such as frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s Disease.
Both are fatal, irreversible diseases that currently have no effective treatment.
However, Clelland has the help of a relatively new weapon: CRISPR, the gene-editing technology.
“We are currently developing CRISPR gene therapies for genetic forms of FTD and ALS. But we have to know what edit will work and deliver that technology,” explained Clelland, an assistant professor of neurology at the university.
“Single-gene mutations cause disease and ALS, and should be curable by editing the genome,” she told Healthline.
Their preliminary findings were outlined in a research paper published last month.
CRISPR, which stands for Clustered Regularly Interspaced Short Palindromic Repeats, has rocked the science community in recent years.
It was first introduced by Jennifer Doudna, Ph.D., a professor in the departments of chemistry and molecular and cell biology at the University of California Berkeley, and her collaborator, Emmanuelle Charpentier, PhD, a professor at the Max Planck Unit for the Science of Pathogens in Berlin, Germany.
The two scientists were awarded the 2020 Nobel Prize in Chemistry for their research.
With CRISPR, humans now have the power to rewrite the sequences of small regions of the genome and potentially erase certain diseases.
But CRISPR’s introduction was accompanied by both enthusiasm and scorn. While the technology is unprecedented, there are those who believe human genes should not be altered.
Some say that what CRISPR does is “playing God”.
In 2018, Chinese scientist He Jiankui used the CRISPR-Cas9 technology to modify the genomes of embryos. His intent was to make them resistant to HIV. The three babies were subsequently born healthy.
But when they learned of what Jiankui had done, China’s State Council
CRISPR is more accepted in the global scientific community now.
It is being used in labs worldwide to study its abilities to treat and possibly cure cancer, diabetes, HIV/AIDS, and blood disorders.
Because of CRISPR, scientists can now enter DNA and make a change that corrects mutations that cause disease.
In the UCSF Memory & Aging Center, Clelland sees people with cognitive symptoms and dementia, which affect parts of the brain that control emotions, behavior, personality, and language.
Clelland said she develops CRISPR gene-editing approaches in relevant cell types derived from human Induced pluripotent stem cells.
These stem cells are derived from skin or blood cells that have been reprogrammed back into an embryonic-like pluripotent state.
This enables the development of an unlimited source of any type of human cell needed for therapeutic purposes. Clelland’s lab is focused on monogenic causes of FTD and ALS such as mutations in the so-called C9orf72 gene.
“We’re only about a year or two away from human trials,” she said.
For some, the research is still too preliminary to start raising hopes.
A spokesperson for the Alzheimer’s Association told Healthline “at this point we cannot comment on this technique.”
Officials at The ALS Association did not respond to Healthline’s request for comment for this story.
Linde Jacobs would love to be in one of the upcoming CRISPR trials.
Jacobs, 34, who’s married and has two young children, said her mother started exhibiting behavior and personality changes in 2011 at age 51 – but she wasn’t diagnosed with FTD until December 2018.
“My mom passed in August 2021 at the age of 62,” said Jacobs, who found out about her own positive FTD status just a month later.
“My official diagnosis is MAPT-related frontotemporal dementia, asymptomatic carrier,” Jacobs told Healthline.
She hopes to be involved in one of Clelland’s trials “even if it doesn’t help me but can help someone else.”
Meanwhile, Steve Fisher, who won the national championship as coach of the University of Michigan basketball team and coached many elite teams at San Diego State University, has supported efforts to find a cure for ALS and other genetic diseases since his son, Mark Fisher, was diagnosed with the disease in 2009.
“Mark was in an early trial, and I applaud him for what he is battling. He has a phenomenal spirit,” Fisher told Healthline.
“People can live with ALS. But it is a very difficult disease. I do believe there could be a cure for this. I hope it comes in Mark’s lifetime,” he said.