Jonathan Haines, PhD, and Will Bush, PhD, Part of International Collaboration that Makes Landmark Breakthroughs

An international study analyzing data from more than 94,000 people identified five new genes related to Alzheimer’s disease. The study also supports developing evidence that groups of genes associated with specific biological processes serve as genetic “hubs” that play an important role in the disease process.

Funded in part by the National Institute on Aging (NIA) and other components of the National Institutes of Health (NIH), the study was published online February 28, 2019 in Nature Genetics.

“Breakthrough findings like those detailed in this paper require input from dozens of research teams from around the world,” said Jonathan Haines, PhD. “We are pleased to have contributed to this effort with conceptualization of the study and analysis across vast amounts of data. Collaboration across the genetics and Alzheimer’s research communities makes it possible to achieve significant findings like this.”

The project scrutinized more genetic data than any other study of Alzheimer disease to date.

Like many diseases, Alzheimer’s correlates to variations in multiple genes, and is informed by environmental and behavioral factors. This study confirms developing evidence that groups of genes associated with specific biological processes, such as cell trafficking, lipid transport, inflammation and the immune response, are “genetic hubs” that are an important part of the disease process.

The researchers, all IGAP members, including Dr. Haines and Dr. William A. Bush, also with the CWRU School of Medicine, along with lead authors, Drs. Brian Kunkle and Margaret Pericak-Vance at the University of Miami and Drs. Benjamin Grenier-Boley and Jean-Charles Lambert from INSERM, Lille, France, also made other landmark breakthroughs.

Additionally, the study uncovered how the existence of specific variants in genes that bind to a protein called “tau” may affect disease development at an earlier stage than previously thought and revealed a formerly unknown common feature between early-onset and late-onset Alzheimer disease (i.e. how certain proteins called amyloid precursor proteins are broken down). That finding suggests that some therapies developed for early-onset disease may also work for late-onset disease.

Read more from our colleagues who served as lead PI’s on this study.