A team of researchers at the University of California, Los Angeles have identified a set of new risk genes for progressive supranuclear palsy and Alzheimer’s disease.  

Published in the journal Science, the study employed a method not yet used in the research of neurodegenerative diseases to identify the risk genes.  

“We combined multiple advances that allow one to conduct high-throughput biology, in which instead of doing one experiment at a time, one does thousands of experiments in parallel in a kind of pooled format,” said Dan Geschwind, MD, corresponding author of the study and distinguished professor at UCLA. “This allows us [to] approach this challenge of how to move from thousands of genetic variants associated with a disease to identifying which are functional and which genes they impact.” 

Using high-throughput testing validated suspicion of a dozen or so other genes believed to contribute to the progression of PSP. The tests also unveiled two new risk genes for the disease: PLEKHM1 and KANSL1.  

The study found at least one new mechanism in PSP that saw multiple loci working together to disrupt the body’s ability to turn certain cells on and off. Dr. Geschwind suggests that this finding could open the door to new targets for medicines, and that rather than targeting single genes, newer treatments could potentially target gene networks for greater efficacy.  

The study also opens new possibilities for research into neurodegenerative conditions by proving the utility of high-throughput research when used alongside traditional methods.  

“We believe that integration of multiple methodologies will be critical for future work annotating disease-relevant variation in both the research and clinical domains,” said Yonatan Cooper, an MD candidate and lead author of the study.  

For more information on how genes can cause PSP and other neurodegenerative conditions, visit AFTD’s FTD Genetics and You page.