1. Genomics and World Health
David Weatherall
Weatherall Institute of Molecular
Medicine, University of Oxford

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3. Birth Defects (M of D, 2006)
Frequency
7.9 million/yr. 3.3 million deaths
25% 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%
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4. Common Genetic Disorders of
Haemoglobin
Thalassaemia
thalassaemia
thalassaemia
Structural variants
Haemoglobin S
Haemoglobin E
Haemoglobin C
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5. Annual births of severe
disorders of haemoglobin
Sickle cell anaemia
Sub-Saharan Africa 240,932
Elsewhere 92,997
HbSC disease 54,736
Thalassaemia
thalassaemia major 23,329
HbE thalassaemia 20,588
HbH disease 14,504
HbS thalassaemia 12,321
Hb Bart’s hydrops 5,183
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8. Population genetics and dynamics of
genetic disease in the developing
countries
1) Natural selection
2) Consanguinity
3) Parental age
4) Population migration
5) Epidemiological transition
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9. Organisation required for control of
thalassaemia in the developing countries
North/South and South/South
partnerships
Support by WHO, funding agencies,
NGOs, Governments
Definition of economic issues. GBD
programme
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10. Oxford-Sri Lanka
North/South Partnership
Joint research programme
Capacity building
National Thalassaemia Centre
Central reference laboratory
Molecular Medicine Centre
National Thalassaemia Programme
Education
Screening
Staff Training in Oxford
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13. Genomics and Control of
Haemoglobin Disorders
Prevention Screening. PND
Fetal blood/globin synthesis 1974-1989 13,921
cases
DNA Analysis by CVS 1980
Improved Management
Transfusion. Chelation. Hydroxyurea etc. 1960
Heterogeneity
‘Candidate’ genes. Linkage. Unusual phenotypes 1970
GWAS and related studies. Confirmed/extended
No new modifiers
Gene Therapy

14. Molecular Medicine (1950 - 2010)
Monogenic (Mendelian) disease
Diagnosis, prenatal diagnosis (therapy)
Communicable disease
Diagnosis, (therapy)
Cancer
Mechanisms, diagnosis, therapy
Vascular disease, diabetes, dementia, rheumatic
disease etc.
Small (multigenic) components
Pharmacogenomics
Drug design, (personalised therapy)
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15. The Future
Data collection
Genomics. GWS
Transcriptomics
Epigenomics
Proteomics
Metabolomics
Phenomics
Analysis
Systems biology
Cellmap
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16. The Future
Expansion of North-South partnerships
Evolution of South-South partnerships
Modification of medical education in rich
countries
Education of governments of rich countries
and NGO’s regarding cost-effectiveness of
partnerships