Stefan Fajans, M.D. — A Commitment to Diabetes Research
Spanning Over Seven Decades
Stefan Fajans, M.D., former Professor Emeritus of Internal Medicine at the University of Michigan’s Division of Metabolism, Endocrinology & Diabetes (MEND), was an international leader in the study and treatment of diabetes. As the identifier of a type of diabetes called Maturity-Onset Diabetes of the Young (MODY) and as the U-M’s first director of the Michigan Diabetes Research and Training Center, Dr. Fajans’ long and impressive career spanned over seven decades. Even after being officially retired for over 20 years, he still played an active role in the MEND Division until his death on June 22, 2014 at the age of 96.
Born and raised in Munich, Germany, Fajans was the second son born to Kasimir and Salomea Fajans. He and his older brother, Edgar, grew up in a well-educated and close-knit family. Fajans’ father was a Polish born professor of physical chemistry at the University of Munich, who became the director of a Rockefeller Foundation Endowed Institute of Physical Chemistry. Fajans’ mother, Salomea, was a physician who practiced until he was born.
Kasimir Fajans traveled the world lecturing at different universities on physical chemistry, including a lecture in 1930 at the University of Michigan. In 1935, he received a telegram from the U-M offering him a professorship. Kasimir accepted the offer and the Fajans family packed up their belongings and immigrated to the states in 1936. Young Fajans was only 18 years old at the time of the move, but already possessed a strong educational base. Upon arriving in Ann Arbor, Fajans was interviewed by six U-M professors who evaluated his level of knowledge and officially deemed him a U-M second-semester sophomore. Fajans, who had always been interested in medicine, enrolled in the University’s chemistry program. Taking back-to-back courses, he received his bachelor’s degree in chemistry in just two years.
After receiving his degree, Fajans entered the University of Michigan Medical School. He soon became interested in endocrinology and, more specifically, in the control of carbohydrate metabolism. During his junior year, he took an elective in endocrinology that was taught by Dr. Jerome Conn, then the Chief of the Endocrinology and Metabolism Division. Fajans’ interest grew and his career in the study and treatment of endocrinology, metabolism, and diabetes was set in motion.
Upon graduation from medical school, Fajans completed an internship at New York’s prestigious Mount Sinai Hospital. In 1943, he was drafted into the army medical core during World War II. He was assigned to an evacuation hospital which was the first to land on Omaha Beach during the third day of the Normandy invasion. Fajans worked on post-operative wards treating injured soldiers and then on medical wards.
Following the end of the war, Fajans returned to the University of Michigan as a research assistant under the guidance of Dr. Conn until 1947. He went on to finish his medical residency in 1949, his fellowship in endocrinology and metabolism in 1951, and then accepted an assistant professorship position in that division. Since that time, Fajans has devoted his life to endocrinology and to diabetes research and care.
In 1958, Fajans began studying a Michigan family with more than 360 members now spanning six generations. The family, who would become known as the “R-W pedigree”, had an astonishing 74 members with a form of non-insulin dependent diabetes, also called type 2 diabetes. However, the disease appeared unusually early in this family, being able to be diagnosed in children and adolescents or by the age of 25 unlike the usual onset of type 2 diabetes after age 40. The study of this family, as well as others, led Fajans to name this form of diabetes as Maturity Onset Diabetes of the Young, abbreviated as MODY.
MODY is a form of diabetes that is inherited in an autosominal dominant fashion, meaning that the disease appears in approximately 50% of each successive generation and is due to a mutation of a single gene. In most forms of type 2 diabetes, genetic inheritance is a weaker risk factor and environmental factors are more important. And in type 2 diabetes inheritance is polygenic, meaning that many genes are involved, the nature of which is being investigated intensively. Unlike type 2 diabetes, MODY is characterized by insulin deficiency from a very early age. Typical type 2 diabetes patients are usually over 40 years of age at diagnosis and are overweight or obese. But MODY patients are typically in their teens or twenties and are lean.
“In the 1960s to the 1980s it was thought that type 2 diabetes only occurred in middle age,” stated Fajans. “However, after studying the R-W and other families, and by testing not only adults but also children, I found that 'type 2 diabetes' developed and could be diagnosed in children as well, now known as MODY.”
During the late 1980s, Fajans began collaborating with Graeme Bell, Ph.D., Louis Block Professor of Biochemisty & Molecular Biology and Medicine at the University of Chicago. After studying a large number of R-W family members who had MODY, Fajans co-published the first paper describing a genetic marker of MODY in 1991. This was the first time genetic techniques were successful of determining the location of a gene that caused diabetes. This discovery allowed researchers to predict which children from these families would eventually develop diabetes. In 1996, Bell and his colleagues found the MODY gene for the R-W pedigree designated as MODY 1, and a related gene from MODY 3. There are now six known MODY genes.
Until his death, Fajans continued to study the R-W pedigree. Amazingly, after more than 11 years since the MODY 1 gene was found, Fajans revitalized the project by publishing another paper with startling findings. The data reveals that newborn babies who carry the mutated MODY 1 gene and are offspring of male as well as female diabetic members of the RW pedigree have higher than normal birth weights with instances of neonatal hypoglycemia. This implies hyperinsulinism in fetal and neonatal life followed by hypoinsulinism thereafter. This changes the natural history of beta cell functions in MODY 1.
Aside from his research, Fajans was active as the chief of the Division of Endocrinology and Metabolism and as a teacher and practicing clinician in that specialty. He was instrumental in establishing the Michigan Diabetes Research and Training Center (MDRTC). Beginning in 1975, he formed a policy committee for applying to the NIH and in 1977 the U-M was awarded a five-year, $4.3 million dollar grant to create the MDRTC, which was then the largest grant the University had ever received.