Photo by D.J. Fairbanks
Dr. Christina Laukaitis MD PhD is Associate Professor at the University of Illinois and the Carle Illinois College of Medicine. Her research focuses on basic molecular genetics and clinical medical genetics with a strong interest in Mendelian genetics in medicine. She is recipient of the 2019 Gregor Mendel Memorial Medal from the Mendelianum of the Moravian Museum awarded at the Royal Institution in London in conjunction with the centennial of the Genetics Society.
The University of Illinois houses the Hugo Iltis collection of Mendel’s ephemera. Could you explain how that collection ended up in the USA at the University of Illinois?
Hugo Iltis was a Czech botanist who was born in 1882 and became active in Mendel commemoration. He served as the Secretary for the International Committee for the Mendel Memorial in 1910 and for the Mendel Centenary in 1922. He published a book-length biography of Mendel in 1924 and founded a Mendel museum in Brno, serving as its curator until 1937. Since he had Jewish ancestry, he left Europe in 1938 because of deteriorating politics. After arriving in America, he joined the faculty at Mary Washington College in Fredericksburg, VA where he also developed a Mendel museum. After his death in 1952, Marcus Rhoades, an eminent maize geneticist who was then on the faculty at the University of Illinois, recognised the historical value of the items Dr. Iltis had collected. He suggested that University of Illinois purchase the Iltis Mendelian Collection and, in 1955, they paid $6,000 for it. Pieces of the collection were displayed at the University of Illinois Natural History Museum for many years, and it is now safely preserved in the University Archives.
As a medical geneticist, how do you view the impact of Mendel’s experiments and theory on medicine?
Mendel’s insights into the principles of heredity did not immediately change medical practice, but within 40 years of his 1865 publication, physicians were beginning to recognise that some conditions could be inherited. In 1902, the theory of chromosomal inheritance was proposed. In the same year, the human condition alkaptonuria was recognised as being genetic. Later in the decade, population-genetic theories were postulated and the genetically-controlled ABO blood types were described. In 1918, collinearity of genes was proposed. Phenylketonuria (PKU) was described in 1934 and it eventually triggered newborn screening and linked genetics to public health. In the 1940s, the one gene-one-enzyme hypothesis and discovery of DNA as the genetic material began to describe how conditions like PKU occurred. Since the identification of these early Mendelian diseases, hundreds of additional diseases and traits have been described. The last three decades of the 20th century saw significant technical advances, including Fred Sanger’s invention of a fast method for sequencing DNA in 1977 and Kerry Mullis’ development of polymerase chain reaction (PCR) in 1985. Both methods were vital to the completion of the first human genome, which was reported as a draft in 2000. These advances have also made it possible to study the contribution of genes not only to devastating “Mendelian” diseases, but also to more common complex diseases. More importantly, we can now use genetic information to predict disease risk and to focus care to address that level of risk. We may soon routinely use targeted therapies to change disease-causing genes to ‘fix’ genetic disease.