By Anne McLeod, MD

2009-12-08

Highlighting an ASH meeting that featured more than one hundred abstracts on basic and clinical scientific breakthroughs in the study of red-cell disorders was the presentation of the first Ernest Beutler Lecture and Prize to two scientific giants of thalassemia research, Dr. Thomas Maniatis, the Jeremy R. Knowles Professor of Molecular and Cellular Biology at Harvard University, and Dr. Yuet Wai Kan, the Louis K. Diamond Professor of Hematology at the University of California – San Francisco. This award was recently established to honor the late Dr. Ernest Beutler (1928 - 2008), past ASH president and a physician-scientist active in the field of red-cell disorders for more than 50 years. The award is a two-part lectureship that recognizes major translational advances related to a single topic. It honors two individuals, one who has enabled clinical or translational advances by basic science work and the other for achievements in clinical science or translational research.  Drs. Maniatis and Kan have made ground-breaking contributions to the diagnosis and treatment of thalassemia through the development of techniques that led to the cloning of the globin genes in the 1970s,   pioneering molecular genetic studies for the prenatal and postnatal DNA-based diagnosis of thalassemia.

Both Drs. Maniatis and Kan have been previously honored by ASH for their work. Dr. Maniatis received the E. Donnall Thomas Lecture and Prize in 1994, and Dr. Kan, a past ASH president, was presented with the Dameshek Prize in 1979 and the Stratton Medal in 1980. During the Beutler Lecture, Dr. Maniatis discussed his pivotal role in the development of gene cloning methods and their application to studies of globin gene organization and expression. His advances in basic science were translated by Dr. Kan into advances in the diagnosis of thalassemia. In his lecture, Dr. Kan addressed the development of prenatal and DNA diagnostic tests for thalassemia, current and experimental treatments, and the impact of stem cell technology on future therapy for this disease.

Both Drs. Kan and Maniatis stated that they were honored and humbled to be the first to receive the Prize. “It means a great deal to me as I knew Ernie for many years,” Dr. Kan said. Dr. Beutler was the ASH president in 1979 when Dr. Kan received the Dameshek Prize, giving this award special meaning for Dr. Kan. Dr. Maniatis was honored to receive the award because it “is based on work my laboratory carried out many years ago, which means that work had a lasting impact.”

Although their research has moved in different directions over the years since they were first honored by ASH, some aspects are unchanged, Dr. Maniatis shared. “The fundamental mechanistic approaches I apply to my current research are the same as those I took 15 years ago, but I have moved from erythroid cells to neurons. During the past few years, I have directed much of my efforts toward understanding disease mechanisms in the neurodegenerative disease amyotrophic lateral sclerosis (ALS).” Dr. Kan has continued to work in the field of thalassemia, but said, “In the earlier days, we worked on the classification of hemoglobinopathies and thalassemia. Our more recent work is to investigate the treatment of these diseases.” Dr. Kan used Dr. Maniatis’ work to achieve some of his early successes: “We turned to DNA tests [when working toward prenatal diagnosis] of these conditions, and the cloning of globin genes by Tom Maniatis greatly facilitated these tests,” Dr. Kan explained. Today both feel that keeping up with ever-changing advances in biomedical research and maintaining focus on important problems are two of the biggest challenges they continue to face in their careers.

Dr. Kan discovered his passion for hematology, as many of us do, after treating a patient. “I was first attracted to study thalassemia when I was asked to see a newborn affected by homozygous alpha-thalassemia. Eventually, I made thalassemia and sickle cell my main research focus, which led to my interest in genetics.” Dr. Maniatis became interested in genetics in graduate school; ironically, a mid-1970s moratorium on all research involving recombinant DNA led to his joining the lab of James Watson. There, the birth of his classic book Molecular Cloning: A Laboratory Manual was born. Few graduate students have made it through a molecular biology project without referencing this collection of scientific recipes.

The rewards of working in the field of human genetics have not ceased for either award recipient. For Dr. Kan the discovery of DNA polymorphisms and the wide application of DNA tests continue to keep him interested and enthusiastic. For Dr. Maniatis, the rewards lie in “the excitement of discovery and the impact of these discoveries on human diseases, and, second, the gratification of mentoring young scientists who go on to make important independent contributions to research and teaching.” Dr. Beutler would be proud indeed.

Dr. McLeod indicated no relevant conflicts of interest.

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