1991 Albert Lasker Clinical Medical Research Award

Diagnosis of genetic diseases by DNA technology

In pioneering studies using DNA to diagnose human disease, Dr. Kan has helped lay the groundwork for the rapid progress now being made in the identification of many genetic diseases and in prenatal genetic screening. His studies have markedly increased awareness of the potential use of recombinant DNA technology in diagnosis and have provided an extraordinary example of the power of molecular biology to bring about practical benefits. Dr. Kan's research has helped set the stage for the Human Genome Project, a worldwide genetic mapping effort now underway.

In 1975, while analyzing the DNA of infants with a-thalassemia, Dr. Kan discovered that some were lacking the gene for the a-hemoglobin chain. This was the first demonstration of DNA deletion as a cause for human disease.

Immediately, he applied this knowledge to developing a DNA test and in 1976, he successfully performed a prenatal diagnosis for a-thalassemia.

As recombinant DNA technology was being developed, Dr. Kan continued to devise applications for the diagnosis of human disease. He used restriction enzymes to cut DNA of patients with hemoglobin disorders into fragments for analysis. When comparing the fragment patterns from patients with and without sickle-cell anemia, Dr. Kan discovered that the patterns differed, thus providing a DNA test for sickle-cell anemia.

This discovery of various patterns of DNA in 1978 has found broad application to DNA testing for many diseases. Today, scientists use techniques based on Dr. Kan's work using DNA samples taken from amniotic fluid to diagnose a range of genetic diseases before birth. These techniques are also used to locate genes on human chromosomes.

To Dr. Yuet Wai Kan, for his distinguished record of contributions to the understanding of hereditary diseases—in particular, his application of recombinant DNA technology for prenatal and predictive diagnosis—this 1991 Albert Lasker Clinical Medical Research Award is given.