Research Topics
Genomes and Genes | D J WeatherallSummaryAffiliation: University of Oxford Country: UK Publications
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Publications
Genetic variability in response to infection: malaria and afterD J Weatherall
Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK
Genes Immun 3:331-7. 2002....
Inherited haemoglobin disorders: an increasing global health problemD J Weatherall
Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford, England
Bull World Health Organ 79:704-12. 2001....- Hematologic disorders of children in developing countriesD J Weatherall
Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford, OX3 9DS, United Kingdom
Pediatr Clin North Am 49:1149-64. 2002..In short, the handling of hematologic disorders in developing or tropical countries is no longer confined to the physicians who work in these countries; these diseases are now part of the work of every hematologist... - The molecular basis for the thalassaemias in Sri LankaChristopher A Fisher
Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK
Br J Haematol 121:662-71. 2003..These findings have implications for the control of thalassaemia in high-frequency populations with complex ethnic histories... - Genomics and global health: time for a reappraisalDavid J Weatherall
Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford, OX3 9DS, UK
Science 302:597-9. 2003.... - 2003 William Allan Award address. The Thalassemias: the role of molecular genetics in an evolving global health problemDavid Weatherall
Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, United Kingdom
Am J Hum Genet 74:385-92. 2004 - Thalassaemia: the long road from bedside to genomeDavid J Weatherall
Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK
Nat Rev Genet 5:625-31. 2004 - Interaction of malaria with a common form of severe thalassemia in an Asian populationA O'DONNELL
Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford OX3 9DS, United Kingdom
Proc Natl Acad Sci U S A 106:18716-21. 2009..Because P. vivax malaria is widespread in Asia, further studies of its interaction with HbE beta thalassemia and related diseases are required urgently as a part of ongoing thalassemia control programs... 
The population genetics and dynamics of the thalassemiasD J Weatherall
Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford, UK
Hematol Oncol Clin North Am 24:1021-31. 2010....- Alpha+ -thalassaemia and pregnancy in a malaria endemic region of Papua New GuineaA O'DONNELL
Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK
Br J Haematol 135:235-41. 2006..Although median haemoglobin concentration was significantly lower in mothers homozygous for alpha+ -thalassaemia than those with a normal alpha-globin genotype, this did not result in an adverse outcome of pregnancy... - The hemoglobin E syndromesD C Rees
MRC Molecular Haematology Unit, The John Radcliffe, Headington, Oxford, United Kingdom
Ann N Y Acad Sci 850:334-43. 1998..The Oakland individuals, mostly from Southeast Asia, show similar variation in Hb, which again is largely unexplained... - The alpha thalassaemiasD R Higgs
Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Headington, Oxford OX39DS, United Kingdom
Cell Mol Life Sci 66:1154-62. 2009.... - Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemiasD J Weatherall
Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK
Nat Rev Genet 2:245-55. 2001..They also emphasize the value of an understanding of phenotype-genotype relationships in designing approaches to gene therapy... - Dissecting the loci controlling fetal haemoglobin production on chromosomes 11p and 6q by the regressive approachJ E Craig
MRC Molecular Haematology Unit, John Radcliffe Hospital, Oxford, UK
Nat Genet 12:58-64. 1996.... - Muscle cell injury, haemolysis and dark urine in children with falciparum malaria in Papua New GuineaA O'DONNELL
Weatherall Institute of Molecular Medicine, University of Oxford, The John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK
Trans R Soc Trop Med Hyg 100:817-25. 2006..In malaria, hyperlactataemia may result directly from breakdown of muscle protein as well as tissue hypoxia... - Thalassemia in the next millennium. Keynote addressD J Weatherall
MRC Molecular Haematology Unit, University of Oxford, John Radcliffe Hospital, United Kingdom
Ann N Y Acad Sci 850:1-9. 1998.... - Localisation of human alpha globin to 16p13.3----pterV J Buckle
Nuffield Department of Clinical Medicine, John Radcliffe Hospital, Oxford
J Med Genet 25:847-9. 1988..13----qter. DNA studies show that the patient has not inherited either maternal alpha globin allele. This accounts for the alpha thalassaemia trait in the child and places the human alpha globin complex in band 16p13.3----pter... - Thalassaemia and malaria, revisitedD J Weatherall
Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, U K
Ann Trop Med Parasitol 91:885-90. 1997..vivax and P. falciparum malaria; such early immunization may provide some protection against the disease in later life... - The global problem of genetic diseaseD J Weatherall
Weatherall Institute of Molecular Medicine, University of Oxford, UK
Ann Hum Biol 32:117-22. 2005..There is a major case for the development of regional networks to apply such technology as has been developed for the control and prevention of the important haemoglobin disorders, particularly in Asian countries... - Thalassemia as a global health problem: recent progress toward its control in the developing countriesD J Weatherall
Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford, United Kingdom
Ann N Y Acad Sci 1202:17-23. 2010..Here, I will try to assess the current situation in these countries and examine some of the potential approaches for improving the current situation... - Multiple glucose 6-phosphate dehydrogenase-deficient variants correlate with malaria endemicity in the Vanuatu archipelago (southwestern Pacific)M Ganczakowski
Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, United Kingdom
Am J Hum Genet 56:294-301. 1995..G6PD deficiency is of clinical importance in Vanuatu because it is a cause of neonatal jaundice and is responsible for numerous episodes of drug-induced acute hemolytic anemia... - Plasmodium vivax: a cause of malnutrition in young childrenT N Williams
Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK
QJM 90:751-7. 1997..falciparum was not. Wasting neither predisposed to nor protected against malaria of either species. Although P. vivax malaria is generally regarded as benign, it may produce considerable global mortality through malnutrition... - Pharmacological treatment of monogenic diseaseD J Weatherall
Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK
Pharmacogenomics J 3:264-6. 2003 - Genetic variation and susceptibility to infection: the red cell and malariaD J Weatherall
Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford, UK
Br J Haematol 141:276-86. 2008.... - Age-related changes in adaptation to severe anemia in childhood in developing countriesAngela O'Donnell
Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford OX 3 9DS, United Kingdom
Proc Natl Acad Sci U S A 104:9440-4. 2007..These observations may have important implications both for the better understanding of the pathophysiology of profound anemia in early life and for its more logical and cost-effective management... - The clinical and pathophysiological features of malarial anaemiaD J Roberts
Nuffield Department of Clinical Laboratory Sciences, University of Oxford and Blood Research Laboratory, John Radcliffe Hospital, Headington, Oxford OX3 9DU, UK
Curr Top Microbiol Immunol 295:137-67. 2005.... - Molecular basis for dominantly inherited inclusion body beta-thalassemiaS L Thein
Medical Research Council, John Radcliffe Hospital, Oxford, United Kingdom
Proc Natl Acad Sci U S A 87:3924-8. 1990.... - Molecular medicine; the road to the better integration of the medical sciences in the twenty-first centuryD J Weatherall
Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK
Notes Rec R Soc Lond 64:S5-15. 2010.... - alpha+-Thalassemia protects children against disease caused by other infections as well as malariaS J Allen
Institute of Molecular Medicine, University of Oxford, The John Radcliffe Hospital, Headington, Oxford OX3 9DS, United Kingdom
Proc Natl Acad Sci U S A 94:14736-41. 1997..The mechanism of the remarkable protective effect of alpha+-thalassemia against severe childhood disease remains unclear but must encompass the clear interaction between this hemoglobinopathy and both malarial and nonmalarial infections... - A review of the molecular genetics of the human alpha-globin gene clusterD R Higgs
Nuffield Department of Clinical Medicine, John Radcliff Hospital, Oxford, England
Blood 73:1081-104. 1989 - Evidence linking familial thrombosis with a defective antithrombin III gene in two British kindredsS H Sacks
Nuffield Department of Clinical Medicine, John Radcliffe Hospital, Headington, Oxford
J Med Genet 25:20-4. 1988..1 (theta = 0). These results are consistent with previously published data suggesting that mutation of the antithrombin III structural gene is the cause of inherited antithrombin III deficiency in some families... - 2005 Runme Shaw Memorial Lecture: Training doctors for the 21st century--a global perspectiveD J Weatherall
Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Headington, Oxford OX3 9DS, UK
Ann Acad Med Singapore 34:666-5. 2005 - A highly conserved amino-acid sequence in thrombospondin, properdin and in proteins from sporozoites and blood stages of a human malaria parasiteK J Robson
MRC Molecular Haematology Unit, Nuffield Department of Clinical Medicine, University of Oxford, John Radcliffe Hospital, UK
Nature 335:79-82. 1988..Unlike the CS protein, TRAP is expressed during the erythrocytic stage of the parasite life cycle... - Recent advances in understanding haemochromatosis: a transition stateK J H Robson
MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Headley Way, Oxford, OX3 9DS, UK
J Med Genet 41:721-30. 2004..Here we review these findings and discuss how understanding the different types of haemochromatosis and our increasing knowledge of iron metabolism may help to elucidate the host's response to infection... - Increased microerythrocyte count in homozygous alpha(+)-thalassaemia contributes to protection against severe malarial anaemiaFreya J I Fowkes
Peter Medawar Building for Pathogen Research and Department of Zoology, University of Oxford, Oxford, United Kingdom
PLoS Med 5:e56. 2008..We tested the hypothesis that the erythrocyte indices associated with alpha(+)-thalassaemia homozygosity provide a haematological benefit during acute malaria... - Who killed Cockrobin? The limitations of pathobiographyDavid J Weatherall
Weatherall Institute of Molecular Medicine, Oxford OX3 9DS, UK
Lancet 372:108-9. 2008 - Studies in haemoglobin E beta-thalassaemiaNancy F Olivieri
Hemoglobinopathy Research Program, Toronto General Hospital, University of Toronto, Toronto, ON, Canada
Br J Haematol 141:388-97. 2008..Age-related changes in the pattern of adaptation to anaemia suggest that more cost-effective approaches to management should be explored... - Keynote address: The challenge of thalassemia for the developing countriesDavid J Weatherall
Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford, OX3 9DS, UK
Ann N Y Acad Sci 1054:11-7. 2005..Unless this is done, the large populations of patients with thalassemia in these countries will continue to be neglected... - The centenary of Garrod's Croonian lecturesDavid J Weatherall
University of Oxford
Clin Med 8:309-11. 2008..Although their significance remained dormant for many years, and is still not fully appreciated, they are now recognised as the foundation of medical genetics... - Science in the undergraduate curriculum during the 20th centuryDavid J Weatherall
Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK
Med Educ 40:195-201. 2006..This issue is examined by a brief description of the changing methods of medical education over the last century... - Single and combination drug therapy for fetal hemoglobin augmentation in hemoglobin E-beta 0-thalassemia: Considerations for treatmentSylvia T Singer
Children s Hospital and Research Center at Oakland, 747 52nd St, Oakland, CA 94609, USA
Ann N Y Acad Sci 1054:250-6. 2005..After 5 years of follow-up, a subset of patients remained off transfusions. Hydroxyurea should be considered for a subset of Hb E-beta 0-thalassemia patients... - Hemoglobin E-beta-thalassemia: Progress report from the International Study GroupAnuja Premawardhena
Department of Medicine, University of Kelaniya, Kelaniya, Sri Lanka
Ann N Y Acad Sci 1054:33-9. 2005..These preliminary observations, made over the last 7 years, provide directions for future research into this increasingly important disease... - A novel molecular basis for beta thalassemia intermedia poses new questions about its pathophysiologyAnuja Premawardhena
Faculty of Medicine, University of Kelaniya, Ragama, Sri Lanka
Blood 106:3251-5. 2005.... - Globin gene expression in Hb Lepore-BAC transgenic miceJackie Sloane-Stanley
MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK
Br J Haematol 135:735-7. 2006..Low levels of human gamma chains were detectable as F cells in adult mice, but numbers did not increase after treatment with drugs that raise F cells in human subjects, even on a thalassaemic background... - Academic freedom in clinical researchDavid G Nathan
Dana-Farber Cancer Institute, Boston, MA 02115, USA
N Engl J Med 347:1368-71. 2002 - UGT1A1 variation and gallstone formation in sickle cell diseaseEden V Haverfield
Institute of Biological Anthropology and the Weatherall Institute of Molecular Medicine, University of Oxford, United Kingdom
Blood 105:968-72. 2005..Although further studies of the pathogenesis of gallstones in SS disease are required, the (TA)(7)/(TA)(7) genotype may be a risk factor for symptomatic gallstones in older people with SS disease... - Fetal haemoglobin augmentation in E/beta(0) thalassaemia: clinical and haematological outcomeSylvia T Singer
Children s Hospital and Research Center at Oakland, CA 94609, USA
Br J Haematol 131:378-88. 2005..Continuous monitoring of toxicity and growth is required... - Negative epistasis between the malaria-protective effects of alpha+-thalassemia and the sickle cell traitThomas N Williams
Kenya Medical Research Institute Wellcome Trust Programme, Centre for Geographic Medicine Research, Coast, PO Box 230, Kilifi District Hospital, Kilifi, Kenya
Nat Genet 37:1253-7. 2005..Negative epistasis could explain the failure of alpha(+)-thalassemia to reach fixation in any population in sub-Saharan Africa... - An immune basis for malaria protection by the sickle cell traitThomas N Williams
Kenya Medical Research Institute, Wellcome Trust Programme, Centre for Geographic Medicine Research, Coast, Kilifi District Hospital, Kilifi, Kenya
PLoS Med 2:e128. 2005.... - The effect of alpha+-thalassaemia on the incidence of malaria and other diseases in children living on the coast of KenyaSammy Wambua
Kenya Medical Research Institute/Wellcome Trust Programme, Centre for Geographic Medicine Research Coast, Kilifi District Hospital, Kilifi, Kenya
PLoS Med 3:e158. 2006.... - The membrane characteristics of Plasmodium falciparum-infected and -uninfected heterozygous alpha(0)thalassaemic erythrocytesThomas Neil Williams
Molecular Parasitology Group, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK
Br J Haematol 118:663-70. 2002..We hypothesize that altered red-cell membrane band 3 protein may be a target for enhanced antibody binding to alpha-thalassaemic IRBCs and could be involved in the mechanism of malaria protection...