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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, FranceGuadeloupe University Hospital, 97139 Les Abymes (French West Indies)
University of São Paulo, FMRP-USP, Brazil
GLOBAL GLOBIN 2020 CHALLENGEParis May 30-31, 2016
SCD is not a disease from the black people only
SC global geographic distribution
• 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 of Courtesy of Lucia De Franceschi
The burden of the hemoglobinopathies
Inserm U1134
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
In the North, increase in life expectancy in SCD coincides with the advances of research
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USA
This progress is impressive but interestingly results mostly from rather simple interventions
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Worldwide disparity of resources
The number of SCD patients in India is probably equivalent to that in sub-Saharan AfricaBrazil 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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SCD Babies life expectancyWealthy CountriesPoor Countries
95% 5%
SSA and IndiaRest 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. RahimyInserm U1134
Cartograms of the estimated number of newborns with SCD 2010-2050
Courtesy of Fred PielInserm U1134
Systematic screening Experimental screening
Priority 1: extend newborn screening and comprehensive care programs
Beginning of the 21st Century:the genome era and a ‘new’ medicine
20th CenturyTreat 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 CenturyIntervene 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
Inserm U1134
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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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
Inserm U1134
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
CADRE studySCD cardiovascular aspectsBrigitte Ranque, Xavier Jouven et al
Laboratoire d’Excellence GR-ExCoordonnation: Olivier Hermine
Research Networks
Cohort of 5.000 patients
Examples of successful regional networks
Africa (2)
SickleCHARTA
NIH
Sanger Institute
PI: Julie MakaniTanzania
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
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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The importance of local management in reinforcing the wholeGSCDN and the regional SCD Networks
CARESTREDAC
GLOBAL SICKLE CELL
DISEASENETWORK
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 OdameSickKids Hospital, TorontoInternational Advisory Board: Jacques Elion, Chairman
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
www.globalsicklecelldisease.org
GSCDN Website
http://www.globalsicklecelldisease.org/
Interactive Treatment Centres Map
http://globalscd.ning.com
GSCDN ‘Ning’ Online Community
Foundational and Transformative GSCDN
NINGSiteGSCDN Website
Foundational Transformative Visionary
Establish Int’l Advisory Council
HIGH
HIGH
LOWLevel 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 CentreImplement ProgramsIn 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
Foundational and Transformative GSCDN
NINGSiteGSCDN Website
Foundational Transformative Visionary
Establish Int’l Advisory Council
HIGH
HIGH
LOWLevel 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 CentreImplement ProgramsIn 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
Foundational and Transformative GSCDN
NINGSiteGSCDN Website
Foundational Transformative Visionary
Establish Int’l Advisory Council
HIGH
HIGH
LOWLevel 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 CentreImplement ProgramsIn 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
Courtesy of Leon Tshilolo
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