NIH VideoCast - Causality and Chance in Cancer and in Other Clonal Diseases

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Causality and Chance in Cancer and in Other Clonal Diseases

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Air date:	Friday, March 18, 2016, 2:00:00 PM Time displayed is Eastern Time, Washington DC Local
Views:	Total views: 162 (42 Live, 120 On-demand)
Category:	Special
Runtime:	01:01:28
Closed captioning:	Check box to display CC outside of the video Note: You can drag the captioning window around and resize it
Description:	NCI’s Center for Cancer Research (CCR) Grand Rounds Dr. Lucio Luzzatto received his M.D. from the University of Genova and then went on to do a fellowship in hematology at the University of Pavia and receive his Ph.D. in biochemistry from the Ministry of Education in Rome. The leitmotiv of his research has been to understand, in depth, blood diseases with the ultimate purpose to improve their management. In the area of G6PD he did extensive studies in population and biochemical genetics, and in the early eighties cloned the G6PD gene. He took part in solving the 3D structure of human G6PD, and thus eventually he and his colleagues were able to work out the pathophysiology of G6PD deficiency at the molecular level. They did the first field studies and the first studies on the mechanism whereby G6PD deficiency protects from malaria. In research on paroxysmal nocturnal hemoglobinuria (PNH) he first proved that this is a clonal disorder. Subsequently he and his colleagues have introduced the concept of conditional clonal selection and over the years have provided extensive supporting evidence for this model: in essence, we have found that the existence of CD1d-restricted GPI-specific T cells may be the key not only to the pathogenesis of PNH, but also of aplastic anemia in a substantial proportion of cases. In the meantime, he was the senior author of the paper that led to licensing eculizumab, a complement-blocking agent that has become the first PNH-specific medicine. PNH may prove a model for other clonal disorders of hematopoiesis, and this has been the lead for his tenet in the early nineties, now widely accepted, that leukemia is a genetic disease of hematopoietic cells. They have designed methodology to measure the somatic mutation rate of an individual by a simple test on peripheral blood granulocytes, and this has helped to pinpoint the role of stochastic events in oncogenesis. In the area of sickle cell disease (SCD) they have worked on the cellular mechanism of malaria selection for AS heterozygotes, and on the clinical relationships between G6PD deficiency and SCD. He was also involved in constructing the first mouse model of sickle cell anemia. Dr. Luzzatto serves on many national and NIH boards and committees. He has been an investigator on >60 trials, authored >300 scientific papers or chapters, and is an elected Foreign member of the American Academy of Art and Sciences.

NLM Title:	Causality and chance in cancer and in other clonal diseases / Lucio Luzzatto.
Author:	Luzzatto, Lucio. National Institutes of Health (U.S.),
Publisher:
Abstract:	(CIT): Dr. Lucio Luzzatto received his M.D. from the University of Genova and then went on to do a fellowship in hematology at the University of Pavia and receive his Ph.D. in biochemistry from the Ministry of Education in Rome. The leitmotiv of his research has been to understand, in depth, blood diseases with the ultimate purpose to improve their management. In the area of G6PD he did extensive studies in population and biochemical genetics, and in the early eighties cloned the G6PD gene. He took part in solving the 3D structure of human G6PD, and thus eventually he and his colleagues were able to work out the pathophysiology of G6PD deficiency at the molecular level. They did the first field studies and the first studies on the mechanism whereby G6PD deficiency protects from malaria. In research on paroxysmal nocturnal hemoglobinuria (PNH) he first proved that this is a clonal disorder. Subsequently he and his colleagues have introduced the concept of conditional clonal selection and over the years have provided extensive supporting evidence for this model: in essence, we have found that the existence of CD1d-restricted GPI-specific T cells may be the key not only to the pathogenesis of PNH, but also of aplastic anemia in a substantial proportion of cases. In the meantime, he was the senior author of the paper that led to licensing eculizumab, a complement-blocking agent that has become the first PNH-specific medicine. PNH may prove a model for other clonal disorders of hematopoiesis, and this has been the lead for his tenet in the early nineties, now widely accepted, that leukemia is a genetic disease of hematopoietic cells. They have designed methodology to measure the somatic mutation rate of an individual by a simple test on peripheral blood granulocytes, and this has helped to pinpoint the role of stochastic events in oncogenesis. In the area of sickle cell disease (SCD) they have worked on the cellular mechanism of malaria selection for AS heterozygotes, and on the clinical relationships between G6PD deficiency and SCD. He was also involved in constructing the first mouse model of sickle cell anemia. Dr. Luzzatto serves on many national and NIH boards and committees. He has been an investigator on >60 trials, authored >300 scientific papers or chapters, and is an elected Foreign member of the American Academy of Art and Sciences.
Subjects:	Hemoglobinuria, Paroxysmal Mutation Neoplasms--etiology Neoplasms--genetics
Publication Types:	Lecture Webcast
NLM Classification:	QZ 202
NLM ID:	101680590
CIT Live ID:	17939
Permanent link:	https://videocast.nih.gov/watch=17939

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