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Using computer algorithms based on machine learning, scientists have identified nearly 700 genes that may be linked to amyotrophic lateral sclerosis, also known as Lou Gehrig's disease
Thanks to a super-powerful gene-probing method, scientists at the Stanford University School of Medicine have identified nearly 700 genes that may be implicated in ALS, opening new avenues for drug discovery and a better understanding of the debilitating neurological disorder.
Fifteen genes have previously been implicated in the development of ALS, but only a small percentage of people with the non-inherited form of ALS have mutations in one or more genes
"There is a huge gap between the number of genes known to be involved in ALS and the number of genes we suspect to be involved," said Dr.
More than 200,000 people worldwide have amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease
Finding ALS-related genes in the trove of genomic data proved difficult -- like finding a few needles in a haystack that stretches for miles
"We developed a computer algorithm called RefMap, which is rooted in machine learning, a powerful data analysis method that can automatically identify patterns from large amounts of complex data,
In addition to uncovering a number of genes that may contribute to ALS, the researchers believe this study has addressed several important questions about the disease
"There is a long-standing debate about where ALS originates in cells," said Johnathan Cooper-Knock, a visiting scholar at Stanford University and a lecturer at the University of Sheffield, UK
A paper describing the research was published Jan.
Hundreds of new targets
Typically, ALS researchers study one gene at a time, conducting in-depth analyses to find out if and how that gene is involved in the onset of the disease
The team narrowed the search further: In the ALS patient data, the algorithm looked only for genetic mutations that support motor neuron function
"We can use this information to learn more about how and why motor neurons fail in amyotrophic lateral sclerosis (ALS)," Cooper-Knock said
"It was previously unclear whether axonal defects were an effect of the disease, but our results suggest that these defects may be the cause," Snyder added
KANK1
One gene that recurred in the data analysis caught the researchers' attention: KANK1, which is involved in the function of axon terminals
"If you look at the brains of 100 ALS patients and analyze their motor neurons, you'll see TDP loss in about 98," Cooper-Knock said
.
"That's pretty much the definition of ALS
.
If this doesn't happen, you probably don't have ALS
.
"
"This is an exciting discovery, but it is too early to target KANK1 as a drug,
" Zhang said
.
"More research is needed to determine whether reversing the effects of mutations in the KANK1 gene could help treat the disease
.
"
The team also plans to do some experimental work on other "findings" in their database to see if any of the hundreds of other genes identified in the analysis may contribute to the pathology of amyotrophic lateral sclerosis (ALS)
.