6th H3Africa Consortium Meeting Impact of the H3Africa Initiative on Biomedical Research in and Globally

Charles N. Rotimi, PhD Chief, Genomic of Metabolic, Cardiovascular and Inflammatory Disease Branch Director : Center for Research on and Senior Investigator : National Genome Research Institute, NIH

Zambia – May 9, 2015 Branch Journal Club Oct 2014 Members of my Research Lab at the NHGRI/NIH Research Areas A. Clustering of Metabolic Disorders 1. 2. Diabetes 3. (inflammation – cytokines/adipokines) 4. Dyslipidemia 5. Chronic Kidney Disease B. Genetic of Neglected Tropical Diseases C. D. Statistical Methods Development/Improvement E. Training of the Generation of Scientists F. Genomics for the world – developing global genomic resources

Inequity in Global Biomedical (Genomics) Studies

Essentially, Africa has been left out of the genomic revolution to date

2013 - 11 out ot 1734 GWAS publications are from Africa NHGRI Catalog, accessed 11/06/2013 n=1734 GWAS publications Expanding Diversity in Genomic Research - A Scientific Imperative NOT Political Correctness

As we use genetics to understand human diseases and develop new treatments, We (scientists, funding agencies and communities) must ensure that human diversity is adequately represented.

We must all go to the tailor (participate in research) so that our genetic clothing (precision medicine) will fit properly H3Africa is Making a Difference

Examples

Prof. Christian Happi Support by H3Africa and the World Bank Hadejia kidney failure epidemic

H3Africa Fellows Club

# of trainees over 250 Not all are members of H3Africa fellows club -yet May 8, 2015 CHARLES ROTIMI PH.D REX CHISHOLM PH.D.

The H3Africa Initiative represented in an International Big Data symposium Challenges for H3Africa

Changing Research Culture on the Continent and Abroad The Promise

2006 – Members of African Union endorsed a target for each nation to spend 1% of GDP on R&D

2007 – declared the year for scientific innovation

2010 survey – only three nations - Malawi, Uganda and South Africa topped the 1%

Most nations remain far from the mark even with the addition of funds from foreign donors

National R&D Intensity Gross R&D investment as a percent of GDP 4.5 South Korea 4.0 Finland 3.5 Japan 3.0 Taiwan

2.5 Germany

2.0 U.S.

1.5 France

1.0 EU-28 China 0.5 UK 0.0

Source: OECD, Main Science and Technology Indicators 2015. © 2015 AAAS

Consortium – Advantages The International HapMap Consortium. A haplotype map of the human genome. Nature. 2005 Oct 27; 437(7063): 1299-320. The International HapMap Consortium. Integrating ethics and science in the International HapMap Project. Nat Rev Genet. 2004 Jun;5(6):467-75.

1000 Genomes Project Consortium. An integrated map of genetic variation from 1,092 human genomes. Nature . 2012 Nov 1;491(7422):56-65.

Helgason A, ---- Rotimi C, Stefansson K. Refining the impact of TCF7L2 gene variants on type 2 diabetes and adaptive . Nature Genetics 2007 Feb;39 (2):218-225.

Barnes AM, Carter EM, Cabral WA, Weis M, Chang W, Makareeva E, Leikin S, Rotimi CN, Eyre DR, Raggio CL, Marini JC. Lack of Cyclophilin B in Osteogenesis Imperfecta with Normal Collagen Folding. N Engl J Med. 2010 Feb 11;362(6):521-8 The International Consortium for Blood Pressure Genome-Wide Association Studies, Ehret GB et al. Genetic variants in novel pathways influence blood pressure and risk. Nature. 2011 Sep 11;478(7367):103-9. Thomson R, Genovese G, Canon C, Kovacsics D, Higgins MK, Carrington M, Winkler CA, Kopp J, Rotimi C, Adeyemo A, Doumatey A, Ayodo G, Alper SL, Pollak MR, Friedman DJ, Raper J. Evolution of the primate trypanolytic factor APOL1. Proc Natl Acad Sci

H3Africa Fellows Club

May 8, 2015