The document discusses the establishment of sub-regional and global networks for sickle cell disease (SCD). It notes the large disease burden of SCD globally and the disparity in resources and outcomes between wealthy and poor countries. Successful regional networks in Africa, the Caribbean, and other areas are highlighted. The creation of the Global SCD Network is outlined, with the goals of facilitating international partnerships on research, training, education and clinical programs. Priority areas of focus for the network include natural history studies, infectious disease interactions, hydroxyurea trials in developing countries, and understanding genetic factors in phenotypic diversity.

1. Sub-regional and Global SCD
networks
Jacques Elion, MD, PhD
French National Reference Centers for Sickle Cell Disease
Department of Medical Genetics
and Inserm UMR 1134
Robert Debré Mother and Child University Hospital, 75019 Paris, France
Guadeloupe University Hospital, 97139 Les Abymes (French West Indies)
University of São Paulo, FMRP-USP, Brazil
jacques.elion@inserm.fr
GLOBAL GLOBIN 2020 CHALLENGE
Paris May 30-31, 2016

2. SCD is not a disease from the black people only
SC global geographic distribution

3. • The years lived with disability (YLDs) for hemoglobino-
pathies and SCD is 10,197, a dramatic observation since
the YLDs for cardiovascular disorders is 21,985
• The disabilitity-adjusted life years (DALYs) to measure
the disease burden for hemoglobinopathies and SCD is
15,640, an impressive figure compared to the DALYs for
diabetes that is 75,000
Murray et al. The Lancet 2012; Vos T eet al The Lancet 2012Murray et al. The Lancet 2012; Vos T eet al The Lancet 2012
Courtesy ofCourtesy of Lucia De Franceschi
The burden of the hemoglobinopathies
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4. 2016:
… SCD still raises major unresolved issues and
challenges
high contrast between:
- a single mutation
...the extreme variability of the clinical presentation
- exquisitely detailed pathophysiology
…only one efficient drug: hydroxycarbamide
- SCD in the Northern hemisphere
…SCD in the developing countries
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genotype – phenotype correlation
interaction gene – environment

5. In the North, increase in life expectancy in
SCD coincides with the advances of research
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6. USA
This progress is impressive but interestingly
results mostly from rather simple interventions
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7. Worldwide disparity of resources
The number of SCD patients in India is probably equivalent to
that in sub-Saharan Africa
Brazil is by far the country with the largest number of patients in
the Americas
approx.
- 100 000 SCD patients
in the US
- 50 000 SCD patients
in Europe
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8. SCD Babies life expectancy
Wealthy CountriesPoor Countries
95% 5%
SSA and India
Rest of the World
5%95%
Birth → 6 ms
6 ms → 60 ms
5 yrs → 15 yrs
The Two Worlds of SCD
10% 99%
Courtesy of Mohamed C. Rahimy
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9. Cartograms of the estimated number
of newborns with SCD 2010-2050
Courtesy of Fred Piel
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10. Systematic screening Experimental screening
Priority 1: extend newborn screening
and comprehensive care programs

11. Beginning of the 21st Century:
the genome era and a ‘new’ medicine
20th Century
Treat disease when
symptoms appear and
normal function is lost
Did not undestand the
molecular and cellular
events that lead to
disease
Expensive in financial
and disability cost
21st Century
Intervene before
symptoms appear and
preserve normal
function as long as
possible
Understand preclinical
events and detect
patients at risk
Orders of magnitude
more effective
Courtesy of Susan B. Shurin, NIH, NHLBI
Priority 2:
Establish the conditions for fine
phenotype determination
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12. Why conducting research in the
developing world?
a unique opportunity to dissect the respective part
of genetic versus environmental factors
Clinical diversity and genomic research
SCD populations in the North are mixed
Africa and India provide
- phenotypic diversity
- genetic diversity
- environmental diversity
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13. Why conducting research in the
developing world?
this can be achieved only via equitable and
sustainable North-South, South-South, and global
networks promoting international collaboration
Clinical diversity and genomic research
SCD populations in the North are mixed
Africa and India provide
- phenotypic diversity
- genetic diversity
- environmental diversity
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14. REDAC
Africa (1)
Examples of successful regional networks
The Central African
SCD network
- Cameroon Angola
- DRC Ouganda
- Congo Zambia
- CAR Kenya
- Gabon Burundi
- Tanzania Rwanda
- South Sudan

15. CADRE study
SCD cardiovascular aspects
Brigitte Ranque, Xavier Jouven et al
Laboratoire d’Excellence GR-Ex
Coordonnation: Olivier Hermine
Research
Networks
Cohort of 5.000 patients
Examples of successful regional networks
Africa (2)

16. SickleCHARTA
NIH
Sanger Institute
PI: Julie Makani
Tanzania
Establish a network of
Excellence SCD Centres
in Africa
- Epidemiological genetics
GWAS studies
- Healthcare
- Training
Cohort:
goal 10.000 SCD patients
Examples of successful regional networks

17. Caribbean Network
11 Caribbean countries
- Newborn screening
- Follow-up
- Education
- Research
Relationship between Acute Chest
Syndrome and the sympatho-vagal
balance in adults with hemoglobin
SS disease; a case control study
Knight-Madden JM, Connes P, Bowers A,
Nebor D, Hardy-Dessources MD,
Romana M, Reid H, Pichon AP,
Barthélémy JC, Cumming VB, Elion J,
Reid M. 2012, sous presse.
President : MD Hardy-Dessources
Examples of successful regional networks
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18. The importance of local management in reinforcing the whole
GSCDN and the regional SCD Networks
CAREST
REDAC
GLOBAL SICKLE CELL
DISEASE
NETWORK

19. The Global SCD Network
• Mission
– Furthering research and advancing clinical
care globally
• Goals
– Facilitate North-South, South-South and
triangular partnerships
• Research
• Training
• Education
• Clinical programs
Medical Director: Isaac Odame
SickKids Hospital, Toronto
International Advisory Board:
Jacques Elion, Chairman

20. The Global SCD Network
• Natural history and newborn screening
• Infectious diseases and SCD
• Hydroxyurea treatment in developing
countries
• Genetic factors in phenotypic diversity
• Laboratory and data management
Working groups

21. www.globalsicklecelldisease.or
g
GSCDN Website

22. http://www.globalsicklecelldisease.org/
Interactive Treatment Centres Map

25. http://globalscd.ning.com
GSCDN ‘Ning’ Online Community

26. Foundational and Transformative GSCDN
NINGSite
GSCDN Website
Foundational Transformative Visionary
Establish Int’l Advisory
Council
HIGH
HIGH
LOW
Level of Effort to Implement
IMMEDIATE PRIORITIES SHORT /MEDIUM TERM
PRIORITIES
LONG TERM PRIORITIES
* Red line indicates maturity curve
GSCDN Conference at CDC
Published data of SCD
related mortality
Foster Partnerships; start with CDC, UNESCO
SCD Centre Planning
1 SCD Model Centre
Implement Programs
In 3 or 4 LICs
Standard SC Centre
Model Rollouts
SCD Leader, WHO
Partner , Continued
SC Centre Expansion
Sickle cell disease in Africa: a neglected cause of early childhood mortality.
Grosse SD, Odame I, Atrash HK, Amendah DD, Piel FB, Williams TN.
Am J Prev Med. 2011

27. Foundational and Transformative GSCDN
NINGSite
GSCDN Website
Foundational Transformative Visionary
Establish Int’l Advisory
Council
HIGH
HIGH
LOW
Level of Effort to Implement
IMMEDIATE PRIORITIES SHORT /MEDIUM TERM
PRIORITIES
LONG TERM PRIORITIES
* Red line indicates maturity curve
GSCDN Conference at CDC
Published data of SCD
related mortality
Foster Partnerships; start with CDC, UNESCO
SCD Centre Planning
1 SCD Model Centre
Implement Programs
In 3 or 4 LICs
Standard SC Centre
Model Rollouts
SCD Leader, WHO
Partner , Continued
SC Centre Expansion
Sickle cell disease in Africa: a neglected cause of early childhood mortality.
Grosse SD, Odame I, Atrash HK, Amendah DD, Piel FB, Williams TN.
Am J Prev Med. 2011

28. Foundational and Transformative GSCDN
NINGSite
GSCDN Website
Foundational Transformative Visionary
Establish Int’l Advisory
Council
HIGH
HIGH
LOW
Level of Effort to Implement
IMMEDIATE PRIORITIES SHORT /MEDIUM TERM
PRIORITIES
LONG TERM PRIORITIES
* Red line indicates maturity curve
GSCDN Conference at CDC
Published data of SCD
related mortality
Foster Partnerships; start with CDC, UNESCO
SCD Centre Planning
1 SCD Model Centre
Implement Programs
In 3 or 4 LICs
Standard SC Centre
Model Rollouts
SCD Leader, WHO
Partner , Continued
SC Centre Expansion
Sickle cell disease in Africa: a neglected cause of early childhood mortality.
Grosse SD, Odame I, Atrash HK, Amendah DD, Piel FB, Williams TN.
Am J Prev Med. 2011

29. Courtesy of Leon Tshilolo
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