An esteemed Finnish scientist who was recruited to Ohio State from the University of Helsinki in 1997, de la Chapelle died just nine months after the March 2020 passing of his wife, Clara D. Bloomfield, MD, also a Distinguished University Professor who for many years served as cancer scholar and senior adviser to the OSUCCC – James.
De la Chapelle was internationally renowned as a pioneer in the study of human cancer genetics. His research, which spanned more than half a century and included over 800 publications in scientific journals, led to important seminal discoveries about the molecular and genetic nature of cancer, setting the stage for the development of innovative treatments.
Considered one of the most prominent scientists in Finland when he was recruited to Ohio State, de la Chapelle received numerous accolades and awards during his career, including his election to the U.S. National Academy of Sciences (now the National Academy of Medicine) and a lifetime achievement award from the Collaborative Group of the Americas on Inherited Colorectal Cancer (CGA-ICC), which works to improve understanding of inherited colorectal cancer and the clinical management of affected families. The CGA president at that time described de la Chapelle as “truly a giant in the field of genetics and specifically in colorectal cancer genetics” whose discoveries “paved the way for identification, diagnosis and cancer prevention in patients with mismatch repair mutations.”
After earning his MD and PhD from the University of Helsinki, de la Chapelle joined the faculty there and quickly rose to professor and chair of medical genetics, as well as physician-in-chief for clinical genetics at the University Hospital in Helsinki. In those roles, his achievements escalated.
His earliest work on the analysis of human X and Y sex-determining chromosomes identified the region of the Y chromosome responsible for maleness. He co-initiated the International Workshops on Chromosomes in Leukemia, which led to a series of discoveries. With the use of linkage disequilibrium as a tool to locate genes responsible for hereditary diseases in isolated populations, his laboratory discovered the region of chromosomes responsible for 14 human diseases. For seven of those, he found the gene responsible for the disease.
One of de la Chapelle’s most important achievements in cancer genetics was helping to identify and map four genes (mismatch repair genes) that cause Lynch syndrome (LS), an inherited disorder that makes certain families susceptible to colorectal cancer. By discerning that this susceptibility results from a damaged cell’s inability to repair its DNA, he discovered a cancer-causing mechanism.
At Ohio State, where he held the Leonard J. Immke Jr. and Charlotte L. Immke Chair in Cancer Research, de la Chapelle not only led the human cancer genetics program for the OSUCCC – James but also mentored students and continued his own groundbreaking basic research on molecular causes of cancer. His laboratory focus was on the mapping, cloning and characterization of high- and low-penetrance genes for cancer predisposition.
De la Chapelle was known for his compassionate approach to clinical research, always showing an interest in patients seen by his staff in clinic. He emphasized applying laboratory discoveries to the development of diagnostic procedures and treatments — including a test used to screen people for LS, and studies that led to recommendations for the universal screening of patients with colorectal cancer for LS so that, if they tested positive, their relatives could be screened for LS as well. His work helped lead to the Ohio Colorectal Cancer Prevention Initiative, a statewide project that involved 50 hospitals throughout Ohio and was funded in part by Pelotonia, the annual cycling event that raises money for cancer research at Ohio State.
He also made contributions in the areas of papillary thyroid cancer (PTC), acute myeloid leukemia and endometrial cancer. Some of his later work at Ohio State included the study of inherited gene mutations that predispose to PTC, including non-coding RNA genes.
“The OSUCCC – James benefited for nearly a quarter century from Dr. de la Chapelle’s expertise and skills as a researcher, educator, administrator and friend to all who had the privilege of working with him or being mentored by him,” says OSUCCC director Raphael E. Pollock, MD, PhD, FACS. “His recruitment to Ohio State more than 23 years ago along with Dr. Bloomfield, who arrived at the same time, was a momentous occasion for our cancer program.”