Jonathan L. Haines, PhD
Case Western Reserve University School of Medicine
At the start of Jonathan L. Haines’ career in the mid-1980s, science was just starting to unravel the human genome; genetic associations were known for only a handful of diseases, and the Human Genome Project wouldn’t officially launch for years. Since that time, Dr. Haines, a revered researcher at Case Western Reserve University School of Medicine (CWRU SOM), has significantly expanded our understanding of the relationship between genetic variation and disease risk.
Dr. Haines’ most heralded contribution, a paper in Science that identified the ε4 variant of the apolipoprotein E (APOE) gene as a major risk factor for late-onset Alzheimer’s disease, was published in 1993 while he was at Harvard Medical School. “This was the first paper identifying a gene variant linked to a common disorder. To call this development a breakthrough is an understatement since its implications for both Alzheimer’s research and the field of human genetics have been unsurpassed for the past 30 years,” noted Stan Gerson, MD, dean of CWRU SOM. APOE quickly became a core focus of Alzheimer’s disease research, and Dr. Haines’ paper is the most cited original research paper in Alzheimer’s studies of the past 40 years, with more than 12,000 citations and counting.
This discovery came at a critical moment when the field was reinventing itself via computational methodologies. Dr. Haines embraced this technology, which transformed genetics research and lead to innovative methods for analyzing and integrating multiple sources of data.
Though he’s best known for his work on Alzheimer’s disease, Dr. Haines has also made major contributions to science’s understanding of multiple sclerosis, Parkinson’s disease, macular degeneration, and other ailments. Across his 800 publications, Dr. Haines has identified more than 20 causal and 500 associated loci for various diseases. He has also identified the specific triggers for at least 40 diseases that can arise as the result of a mutation in a single gene. Several of Dr. Haines’ breakthroughs are considered to be watershed moments in research science, enabling a host of new treatment pathways that could ultimately benefit hundreds of millions of people living with common, complex, and costly diseases.
In 1997, Dr. Haines founded the Center for Human Genetics Research (now the Vanderbilt Genetics Institute) at Vanderbilt University in Nashville, where he also founded the human genetics PhD program. In 2013, Dr. Haines moved to CWRU SOM, where he now chairs the department of population and quantitative health sciences and directs the Cleveland Institute for Computational Biology. In 2025, Dr. Haines was named Distinguished University Professor at CWRU, the institution’s highest faculty honor.
Dr. Haines has also led the organization of several consortia to foster research and global information-sharing for Alzheimer’s, multiple sclerosis, autism, glaucoma, and age-related macular degeneration. As a dedicated educator and mentor, he’s trained dozens of students representing the next generation of genetics research pioneers.
Dr. Haines earned a BA in biology from Colby College in 1979 and a PhD in genetics and cell biology from the University of Minnesota in 1984. He completed postdoctoral training at Indiana University School of Medicine.