One can only dream about being recognized on a prestigious level for their work, but for former Valley resident, Dr. Evan Eichler, it’s become a reality he never imagined. Dr. Eichler has been named as one of Time Magazine’s Top 100 Most Influential People of 2022. His work and study on the human genome has been groundbreaking and led to his team being selected.
Dr. Eichler’s education has taken him all over the world and resulted in him studying in some of the most outstanding universities in his field.
“I went to the University of Saskatchewan, in Saskatoon, Sask, from 1986 to 1990, where I got an Honors B.Sc Degree in Biology,” said Dr. Eichler. “After a post-back year at the Ludwig-Maximillians University (LMU) in Munich, Germany, I was accepted to the Baylor College of Medicine (BCM), in Houston, Texas. Here I received my Ph.D. after four years of study in 1995 in the field of Human and Molecular Genetics.”
Dr. Eichler’s field of genome sciences is a fascinating one. He focuses on what's in a person’s genetics as it refers to genetic disease.
“Genome sciences is the study of the complete genetic instructions of a species,” said Dr. Eichler. “In the case of humans, it is essentially human genetics, but starts by having the complete set of instructions and then using it and new technology which is often referred to as genomics technology to understand biology and the basis of genetic disease.”
His extensive study and research began in Germany and has continued on throughout his career. Dr. Eichler’s work has placed him in many different universities across North America.
“In Germany, I interned in Molecular Veterinary Medicine and at Baylor, I worked on human genetics,” said Dr. Eichler. “My specific work at BCM involved understanding the genetic susceptibility to Fragile X Syndrome, which is a form of developmental delay due to an unstable piece of repetitive DNA on the X chromosome.
“After finishing my Ph.D., I moved to the Livermore National Labs in California, where I completed a postdoctoral fellowship from 1995 to 1997. It was here where I began some of my work on the Human Genome Project. I received offers for faculty positions from the University of Toronto, University of Ottawa and Case Western Reserve University (CWRU). I accepted a position as an assistant professor in the Department of Human Genetics at CWRU in Cleveland, Ohio, where I started my research lab in 1997.
“I continued my work on the Human Genome Project with a specific focus on characterizing unstable regions of our genome,” said Dr. Eichler. “I was tenured and promoted to Associate Professor in 2003 and offered a faculty position in the Department of Genome Sciences at the University of Washington, in Seattle, Wash., in 2004. I was promoted to full professor with tenure in 2008 and the National Academy of Sciences in 2013.”
Dr. Eichler received the honour of being appointed to the Howard Hughes Medical Institute (HHMI) for his work on genome science. This is another outstanding achievement and recognition that comes with an incredible source of funding to do research.
“After I arrived at the University of Washington, Seattle, I was nominated by the University for this honour and was appointed in 2005 to the HHMI. HHMI is a virtual position, which does not require a change of universities, but it has the advantage that it pays your salary and gives you a research budget of approximately $750,000 million per year to pursue research.
“The position involves doing everything that a professor does. This includes running a research laboratory in size from 15 to 20 people; teaching classes; mentoring students and working with them to help get their Ph.D.; considerable travel giving lectures and seminars as well as serving on university and national committees."
Dr. Eichler’s research program is dedicated to understanding human genetic disease in relation to the human genome.
“My research program is focused on understanding the mutation of large repeats called segmental duplications,” said Dr. Eichler. “Our hypothesis is simple; we believe these repetitive regions contribute disproportionately to both human genetic disease and human evolution. We’ve shown over the last few years that many forms of autism, developmental delay and epilepsy are caused by mutation of these regions.
“On the flip side, some of the genes that make us uniquely human correspond to these same regions. Since the original Human Genome Project, back in 2001, our laboratory has been focused on finishing these regions, because we believe they are critical to understanding our species and genetic disease. These were however particularly difficult regions to accurately resolve. Most scientists left these and other regions, which is about eight percent of our genetic code, unresolved back in 2004.
“New sequencing technologies made it possible for us to sequence and assemble these for the first time in 2015,” said Dr. Eichler. “For the last 20 years, we have been working to finish all of these regions in the human genome, which we successfully did with a large team last year. The papers were published in April 2022 and we completed every human chromosome from telomere-to-telomere, from one end to the other without gaps. That’s why the project was called the T2T consortium.”
Being recommended for Time Magazine’s 100 Most Influential People of 2022 has been both an extreme honour and mystery for Dr. Eichler. He was nominated along with his team for their work, but to this date, they still aren’t sure just who exactly recommended them for this honour.
“I honestly don’t know who recommended us,” said Dr. Eichler. “There’s a rumour that the Nobel Laureate, Jennifer Doudna, who wrote the description in the TIME 100 nominated us, but I don't know this for sure. It was a team effort and Adam Phillippy, Karen Miga and I led the project. Michael Schatz was one of about 96 other scientists in the project.
“I was honoured and to be honest completely surprised that we received this recognition. It's not the sort of thing that a human geneticist ever expects and it certainly isn't our usual crowd of peers. When I first received the notice, for example, I thought it was a hoax, but my secretary assured me that it was the real deal."
Dr. Eichler still has plans to continue his research and work in both human and non-human genomes. This time, he plans to focus on characterizing the genomes in children with autism.
“This is only the beginning,” said Dr. Eichler. “The next step is to complete more human genomes as well as non-human genomes to help us understand the genetic basis of disease as well as help better define the mutational processes that occur in our genome. I believe the telomere-to-telomere approach will be applied to children with unsolved genetic diseases. I have already received funding to characterize the genomes of more than 100 children with autism, cases we haven’t resolved with more traditional approaches.
"We believe that T2T sequencing of the genomes of these kids will provide us to new insights into how autism occurs and the genetic variants that underlie it. It's a long road but I believe the methods we have developed will be applied more routinely in the clinic 10-20 years from now.”