The study of the human genome, which is defined as the entire set of a person’s genetic material, is one of the most significant concepts in science today.
The word “genome” was coined in 1920 by German botanist Hans Winkler, who combined the German word for “gene” with the Greek suffix “-ome,” to create a term that literally means “body of genes.”
Mapping the human genome can help identify gene mutations that cause disease, and is key to the development of personalized medicine, where treatments are designed for individuals’ unique genetic makeup.
On December 18, Haifa’s Rambam Health Care Campus will host a day-long seminar titled “Israel’s Frontiers in Genomic Medicine: The Beutler Symposium.”
Moderated by Rafael Beyar, MD, DSc, former director of Rambam Health Care Campus, it will feature some of Israel’s top genomic scientists who are grant recipients of the Beutler program. They will present their research on a variety of topics, such as predicting antibiotic resistance; the bacterial immune system; and the origin of human innate immunity.
The Beutler Symposium was founded by Bonnie Beutler in memory of her husband, Ernest Beutler (1928-2008), who was among the most influential and productive medical scientists of the second half of the 20th century and the first decade of the 21st.
The Beutler Research Program of Excellence in Genomic Medicine supports high-level genomic research projects by early to mid-career investigators with basic research backgrounds and proposals based on sound scientific hypotheses. Eligibility is limited to Israeli citizens residing and working in Israel.
Grants of $100,000 are awarded periodically, according to the recommendations of the Scientific Advisory Council, for five years to cover the cost of the awardee’s proposed research project. Projects are reviewed annually to ensure that the objectives of the research program are being met.
‘We have a great deal to learn about all kinds of diseases. Ultimately, they all relate to genomics’
Dr. Bruce Beutler, son of Ernest and Bonnie Beutler, and a joint recipient of the 2011 Nobel Prize in Physiology or Medicine, says that the Beutler family has had a deep allegiance and love for the State of Israel for many years.
“All of us have loved and really revered Israel and wanted to help Israel. This seemed a wonderful way to do it,” says the American immunologist and geneticist.
Beutler will deliver the “state-of-the-art lecture” at the seminar, titled “Discovering Cancer Resistance Mutations in Mice.”
Explaining some of the practical benefits of genome research, Beutler says, “In recent decades, it’s become possible to sequence whole genomes of people quite routinely to understand what diseases they might be susceptible to, in order to gain a greater understanding of what all genes do.
“Even after we knew all the genes in the human genome, there was still quite a mystery about the functions of the proteins they encoded. We learned more and more about that as a result of identifying people with medical phenotypes traceable to mutations in individual genes. That’s where a lot of medicine has gone in the last several years.”
Beutler’s father, Ernest, arrived in the United States with his family from Germany in 1935, when he was a child.
“They had deep Zionist leanings and wanted to see a Jewish state and were very happy when it came into existence,”
Dr. Beutler says, adding that his grandparents had considered moving to pre-state Israel before finally choosing to move to the US.
“I’m very proud of the program that has been put together,” says Beutler. “I think it is something my father would have been really happy about if he’d been around to see it.”
Prof. Rafael Beyar notes that the Beutler Symposium, with its strong academic recognition and collegial atmosphere, is particularly significant at this time when Israel is facing opposition in many academic forums.
He says that the hospital’s relationship with the Beutler family was established by Prof. Jacob Rowe, former director of the Institute of Hematology at Rambam, who had close personal and professional ties with the Beutlers. “I was the director of the hospital at the time, and Prof. Rowe approached me and asked me if we would take the lead in promoting genomic research among all the institutions in Israel. Being that Rambam connects patients to clinical and basic research, I realized that it would be an honor for the hospital to participate in this program.”
Rambam, together with Dr. Beutler and a scientific committee, evaluated the applications and selected the top candidates.
“It was amazing to see how many excellent scientists we have among these institutions, from the Technion-[Israel Institute of Technology] in the North to the Weizmann Institute of Science, to [the] Hebrew University [of Jerusalem], to Ben-Gurion University [of the Negev],” marvels Beyar.
Israel is one of the top-ranked countries in the world in genomic research, he declares. “These are people who lead genomic research in many fields, such as hematology, stem cell technologies, nephrology, and genomics of bacteria, as well as other areas.”
EXPLAINING THE importance of genomics today, Beyar says, “The combination of genomics and immunology is very important. Genomics is also used to identify cancer by analyzing genes in blood samples. It’s still an evolving area, especially due to the development of AI, and its use in analyzing huge amounts of data exists for multiple sources.”
Beyar discusses practical applications from lectures to be presented at the Beutler Symposium, such as the research of Prof. Karen B. Avraham, PhD, dean of the Gray Faculty of Medical and Health Sciences at Tel Aviv University, on epigenomics and gene therapy in deafness. In Israel, certain Bedouin tribes and Israeli Arabs as a whole have a high prevalence of profound prelingual hereditary recessive deafness. Avraham identified key genes responsible for deafness, the mechanisms by which these genes disrupt hearing, and, based on that, developed ways to treat them.
Another topic cited by Beyar that will be presented is the research of Karl Skorecki, MD, from the Technion, who identified a specific gene that protects against renal failure. If the gene is defective, it can lead to renal failure. Instances of the faulty gene are found among the Black population in the US.
Beyar says that genomics will have a significant effect on how diseases are treated in the field of precision medicine, in which treatment can be tailored to individuals based on their genetic makeup, and that studying genomic medicine is key. “We have a great deal to learn about all kinds of diseases. Ultimately, they all relate to genomics.”
Dr. Beutler, together with his family, will be in attendance at the upcoming event, which will be held at Greidinger Hall with an audience of 200 to 300 expected.
Quoting his father, Beutler says that the measure of a scientist isn’t in the size of his laboratory but the size of his ideas. Ernest Beutler was an eminent scientist, but he didn’t have an immense laboratory with hundreds of people at his disposal. He used the resources available to make important discoveries about the causes of a number of diseases and pioneered a number of medical treatments, which includes bone marrow transplantation techniques.
“He was a hypothesis-driven scientist who would have ideas, test them very rigorously, and make a lot of progress that way,” says his son.
The upcoming Beutler Symposium on genomics will reflect the same creativity, dedication, and ingenuity that Ernest Beutler possessed.
This article was written in cooperation with Rambam Health Care Campus.