Genomics and World Health        David Weatherall Weatherall Institute of Molecular  Medicine, University of Oxford
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Birth Defects (M of D, 2006)Frequency   7.9 million/yr. 3.3 million deaths25% comprised of 5 diseases   Congenital heart d...
Common Genetic Disorders of      Haemoglobin       Thalassaemia         thalassaemia        thalassaemia       Structural ...
Annual births of severedisorders of haemoglobinSickle cell anaemia Sub-Saharan Africa 240,932 Elsewhere          92,997HbS...
Population genetics and dynamics of genetic disease in the developing             countries1)   Natural selection2)   Cons...
Organisation required for control ofthalassaemia in the developing countriesNorth/South and South/South partnershipsSuppor...
Oxford-Sri Lanka      North/South PartnershipJoint research programmeCapacity building   National Thalassaemia Centre   Ce...
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Genomics and Control of         Haemoglobin DisordersPrevention Screening. PND   Fetal blood/globin synthesis 1974-1989 13...
Molecular Medicine (1950 - 2010)Monogenic (Mendelian) disease   Diagnosis, prenatal diagnosis (therapy)Communicable diseas...
The FutureData collection  Genomics. GWS  Transcriptomics  Epigenomics  Proteomics  Metabolomics  PhenomicsAnalysis  Syste...
The FutureExpansion of North-South partnershipsEvolution of South-South partnershipsModification of medical education in r...
Genomics and World Health - Prof. Sir David Weatherall
Genomics and World Health - Prof. Sir David Weatherall
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Genomics and World Health - Prof. Sir David Weatherall

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Genomics and World Health - Prof. Sir David Weatherall

  1. 1. Genomics and World Health David Weatherall Weatherall Institute of Molecular Medicine, University of Oxford
  2. 2. 2
  3. 3. Birth Defects (M of D, 2006)Frequency 7.9 million/yr. 3.3 million deaths25% comprised of 5 diseases Congenital heart disease (1 m); Neural tube defect (324,000); Haemoglobinopathy (308,000); Down syndrome (217,000); G6PD deficiency (177,000)Relationship to GNI Low income 60.2% Middle income 33.5% High income 6.3% 3
  4. 4. Common Genetic Disorders of Haemoglobin Thalassaemia thalassaemia thalassaemia Structural variants Haemoglobin S Haemoglobin E Haemoglobin C 4
  5. 5. Annual births of severedisorders of haemoglobinSickle cell anaemia Sub-Saharan Africa 240,932 Elsewhere 92,997HbSC disease 54,736Thalassaemia thalassaemia major 23,329 HbE thalassaemia 20,588 HbH disease 14,504 HbS thalassaemia 12,321 Hb Bart’s hydrops 5,183 5
  6. 6. Population genetics and dynamics of genetic disease in the developing countries1) Natural selection2) Consanguinity3) Parental age4) Population migration5) Epidemiological transition 8
  7. 7. Organisation required for control ofthalassaemia in the developing countriesNorth/South and South/South partnershipsSupport by WHO, funding agencies, NGOs, GovernmentsDefinition of economic issues. GBD programme 9
  8. 8. Oxford-Sri Lanka North/South PartnershipJoint research programmeCapacity building National Thalassaemia Centre Central reference laboratory Molecular Medicine CentreNational Thalassaemia Programme Education ScreeningStaff Training in Oxford 10
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  10. 10. 12
  11. 11. Genomics and Control of Haemoglobin DisordersPrevention Screening. PND Fetal blood/globin synthesis 1974-1989 13,921cases DNA Analysis by CVS 1980Improved Management Transfusion. Chelation. Hydroxyurea etc. 1960Heterogeneity ‘Candidate’ genes. Linkage. Unusual phenotypes 1970 GWAS and related studies. Confirmed/extended No new modifiersGene Therapy
  12. 12. Molecular Medicine (1950 - 2010)Monogenic (Mendelian) disease Diagnosis, prenatal diagnosis (therapy)Communicable disease Diagnosis, (therapy)Cancer Mechanisms, diagnosis, therapyVascular disease, diabetes, dementia, rheumatic disease etc. Small (multigenic) componentsPharmacogenomics Drug design, (personalised therapy) 14
  13. 13. The FutureData collection Genomics. GWS Transcriptomics Epigenomics Proteomics Metabolomics PhenomicsAnalysis Systems biology Cellmap 15
  14. 14. The FutureExpansion of North-South partnershipsEvolution of South-South partnershipsModification of medical education in rich countriesEducation of governments of rich countries and NGO’s regarding cost-effectiveness of partnerships

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