Sub-Saharan centralized biorepository for genetic and genomic research Nagla Gasmelseed a , Afrah Awad Elsir a , Pasquale DeBlasio b , Ida Biunno c, ⁎ a Department of Molecular Biology, National Cancer Institute University of Gezira, Wadmedani, Sudan b BioRep SrL Via Fantoli 16/15 Milano, Italy c Institute for Biomedical Technologies-CNR, Via F.lli Cervi 93, 20090 Segrate-Milano, Italy abstract article info Article history: Received 2 December 2009 Received in revised form 19 July 2010 Accepted 19 July 2010 Available online xxxx Keywords: Biorepository Africa Molecular epidemiology Quality-assessed biomedical samples are essential for academia- and industry driven research on human diseases. The etiologies and the molecular genetic factors relevant in African diseases, including both infections and complex degenerative diseases as well as cancer, need to be studied using well annotated and well-preserved biosamples acquired from native African ethnic groups and compare the results with non- African populations and/or with Afro-Americans. However, a number of difficulties negatively impact on the possibility to obtain clinically annotated biological samples in most Sub-Saharan African countries. This is mainly due to major organizational problems, lack of clinical centres that can dedicate resources to research, as well as lack of facilities in which biomaterials can be properly processed and safely stored. Harmonization of biosample acquisition, storage phenotyping schemes and biocomputer infrastructures are the principal objectives of biological resource centers (BRCs). BRCs comprise biobanks of different formats (collection of blood, DNA, tissues, etc., annotated with medical, environmental, life-style and follow up data) a fundamental tool for molecular epidemiological studies aiming to increase excellence and efficacy of biomedical results, drug development and public health. BRCs provide large and highly controlled biomolecular resources necessary to meet the “omics” scientific platforms. Sudan may be a candidate nation to host such infrastructure, in view of its strategic geographical position and the already existing simple biobanking experiences connected with research groups in Central Sudan. Here, we describe the potential role of biobanks in African genetic studies aiming to dissect the eziopathogenesis of complex diseases in relation to environmental and life-style factors. © 2010 Elsevier B.V. All rights reserved. 1. Introduction There is much to be learned from the study of gene variants implicated in the etiology of diseases in Africans, but comparatively few studies have been conducted thus far on native African ethnic groups (see link to the Online Mendelian Inheritance in Man database; Cavalli-Sforza et al., 1994; Sgaier et al., 2007; Tishkoff et al., 2009). In fact, most research has been performed on non-African populations and on Afro-Americans (Jorde et al., 2001). This is due to the extraordinary difficulties in obtaining clinically annotated human biological samples in most Sub-Saharan African contexts, due logistic and organizational issues, to the rarity of clinical centers, to the lack of trained personnel, and to the almost complete absence of facilities for processing and safe storage of the biosamples. To reconstruct human evolutionary history, to dissect the genetic basis of resistance and susceptibility to diseases, to design better drugs for all people and to understand the basis of complex disorders is necessary, in addition to increase funding and resources, the creation of a global consortium of Biobanks in Africa (Sgaier et al., 2007). Very recently (23 June 2010), the National Institute of Health (Washington DC) and Welcome Trust (London-UK) announced a partnership to launch a joined project named “Human Hereditary and Health in Africa,” (H3Africa). The project aims to use genomic and clinical tools to identify the genetic and environmental contributions to communicable and non commu- nicable diseases. This huge effort will allow the setting up of various regional or national “biobanks” in order to address common ethical issues, data ownership and data sharing. These biobanks will collect DNA and medical information from hundreds of thousands of African people facilitating genetic epidemiology studies and hopefully uncover gene-environmental interactions by linking together genetic variations to environmental factors. The ultimate goal is to accelerate the discovery of vaccines, drugs and diagnostics. Genetic variations has major implications in medicine and public health since affects disease susceptibility and predisposition to infectious diseases and may provide a better understanding of the universal cancer problems (Cooke and Hill, 2001; Sirugo et al., 2004; Molony, 2005; Menard et al., 2006; Sirugo et al., 2008, 2005; Khoury, 2003). Indeed, the line between normal and pathological variants can be drawn only taking into account ethnic and geographic origin, and should be based on an accurate description of gene/allele frequencies. Science of the Total Environment xxx (2011) xxx–xxx ⁎ Corresponding author. ITB-CNR, Via Fratelli Cervi 93, 23090 Segrate, Milano, Italy. Tel.: + 39 0226422712; fax: + 39 0226422770. E-mail address: ida.biunno@itb.cnr.it (I. Biunno). STOTEN-12132; No of Pages 4 0048-9697/$ – see front matter © 2010 Elsevier B.V. All rights reserved. doi:10.1016/j.scitotenv.2010.07.054 Contents lists available at ScienceDirect Science of the Total Environment journal homepage: www.elsevier.com/locate/scitotenv Please cite this article as: Gasmelseed N, et al, Sub-Saharan centralized biorepository for genetic and genomic research, Sci Total Environ (2011), doi:10.1016/j.scitotenv.2010.07.054