Poster Abstracts - S518


Non-typhoidal Salmonella and Zoonotic E. coli as Potential Drivers of Antimicrobial Resistance in Pastoralist Communities in Kasese District, Uganda

Identification: Walusansa, Abdul

Credits: None available.

Non-typhoidal Salmonella and Zoonotic E. coli as Potential Drivers of Antimicrobial Resistance in Pastoralist Communities in Kasese District, Uganda
Abdul Walusansa
School of Medicine, Islamic University in Uganda

August 2017
Introduction: Non-prescribed use of antimicrobials in Agriculture incurs a transfer risk of resistant pathogens to humans. The aim of this study was to determine the potential of non-typhoidal Salmonella spp and Zoonotic E. coli to serve as drivers of Antimicrobial resistance among animals and humans.
Methodology: A laboratory based cross-sectional study was done using archived Salmonella spp and E. coli isolates previously obtained from individuals among pastoralist communities of Kasese district, Uganda. Recovery of the isolates was done by conventional culture and Identification by biochemical methods, serotyping and PCR. Antimicrobial resistance profiling was done by using Kirby bauer disc diffusion method. Following this; the isolates were screened for resistance mechanisms including Extended Spectrum β-lactamase, Carbapenemase and AmpC production using disc diffusion based methods.
Results: The prevalence of Enterohemorrhagic E.coli (EHEC) and Non Typhoidal salmonella were 16% (28/180) and 50% (1/2) respectively. Of the EHEC, 94% (26/28) were of phylogroup B1, A (3%, 1/28) and B2 (3%, 1/28). The most prevalent virulence gene in the EHEC was Stx1 (100%, 28/28) followed by Stx2e (94%, 26/28), none was Stx2 positive. Highest resistance was seen to Cotrimoxazole (89%, 25/28), Tetracycline (71%,20/28), Ampicillin (65%,18/28) and Nitrofurantoin (28%,8/28), these are commonly used in the agricultural sector, whereas minimal resistance was observed to those commonly used in human medicine especially the β-lactams, β-lactam inhibitors and Carbapenems. 17%, (5/28) of the EHEC were ESBL positive, of these one (3%, 1/28) was a Carbapenemase producer. Though only one Non-typhoidal Salmonella isolate was found, it is worrying to note that it showed resistance to all the three antimicrobial agents (Nalidixic acid, Chloramphenicol and Ciprofloxacin) that are most recommended for treatment of Salmonellosis in this setting.
Conclusion: There is a high prevalence of highly pathogenic and resistant zoonotic E. coli and low prevalence of Non typhoidal salmonella among humans in pastoralist communities in Uganda. We suspect that these pathogens, along with their AMR genes, were acquired from animals because the zoonotic E. coli (EHEC) largely contained the animal specific Vero toxin gene VT2e and majority belonged Pylo-group B1 which has been documented as the most common EHEC phylo-group inhabiting domestic animals. Therefore, it is highly likely that zoonotic bacteria are potential drivers of antimicrobial resistance to humans in these settings and we recommend that studies involving relatedness of drug resistant isolates from humans and animals should be conducted to ascertain the role of enterohemorrhagic E. coli in the zoonotic spread of antimicrobial resistance in pastoralist communities. We recommend that a one health approach should be used to establish drivers of MDR spread in pastoralist communities.

Genetic diversity of pharmacogenes in a Bantu-speaking cohort and evaluation of variants associated with tenofovir-induced nephrotoxicity

Identification: Tshabalala, Elizabeth

Credits: None available.

Genetic diversity of pharmacogenes in a Bantu-speaking cohort and evaluation of variants associated with tenofovir-induced nephrotoxicity
E. Sibongile Tshabalala1, Ananyo Choudhury2, Natasha Beeton-Kempen1, Faheem Seedat3 and Ebrahim Variava3, Neil Martinson4, Michèle Ramsay2, 5 and Dalu Mancama1
1CSIR, Biosciences Unit, South Africa: 2Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, South Africa; 3Department of Internal Medicine, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa; 4Perinatal HIV Research Unit, Baragwanath Hospital and Faculty of Health Sciences, University of the Witwatersrand, South Africa; 5Division of Human Genetics, National Health Laboratory Service, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, South Africa
Recent South African studies report an increase in hospital admissions due to adverse drug reactions (ADRs), including to tenofovir disoproxil fumarate (TDF). Growing evidence suggests a genetic contribution to TDF-related ADRs. Given the high genetic diversity observed in African populations, the aim of this study was to elucidate the pharmacological implications of such diversity by identifying and characterizing known and novel pharmacogenetic variants and evaluating their possible association with TDF-induced nephrotoxicity. Using targeted next generation sequencing to screen 40 Bantu-speaking individuals for variants in 65 genes, 1687 variants were identified; including 129 novel and 22 potential loss-of-function variants. Based on allele frequency (MAF>0.1) and prior association with ADRs, nine SNPs within five genes were prioritised for a genetic association study for TDF-induced nephrotoxicity (clinically manifesting as acute kidney injury (AKI)).  A total of 137 HIV positive patients on TDF treatment were subsequently genotyped using TaqMan® assays, 53 of whom presented with AKI. Association analysis was performed with alleles, genotypes and haplotypes using χ2 tests. The ABCC2 1249A allele and ABCC2 haplotypes AAC and AAT displayed associations with TDF-induced AKI (p≤0.05). The ABCC2 GTT haplotype (p=0.02) appeared to be protective against TDF-induced AKI. However, the associations were not significant following corrections for multiple testing. Further evaluation of these ABCC2 variants in larger cohorts is warranted to establish their role, if any, in TDF-induced AKI.

Genomic Characterization of Zambian Indigenous Cattle Breeds

Identification: Smith, Edward

Credits: None available.

Genomic Characterization of Zambian Indigenous Cattle Breeds
Edward Smith
Virginia Polytechnic Institute and State University, Animal and Poultry Sciences, Blacksburg, VA
Breed characterization is a primary step in designing appropriate management and conservation programs of livestock in developing countries. Since cattle represent a major food animal species in Zambia, its conservation is a major goal for both the government and non-governmental organizations. To support the conservation effort, the objective of this thesis research was to assess the phenotypic and molecular characteristics of indigenous Zambian cattle breeds including Angoni, Barotse, Tonga, and Baila based on body measurements and randomly amplified polymorphic DNA (RAPD) markers, respectively. A total of 100 animals, 25 from each of the four breeds associated with different tribes and region of Zambia, were used in the molecular analysis research. Additionally, 10 Holstein x Jersey crossbred animals were used as a reference and to test the extent of cross-breeding, if any, of the indigenous stock with exotic breeds. To further compare the Zambian indigenous breeds, morphometric measurements including body length, heart girth, and height at withers on 50 animals of each breed were measured. Blood was collected from animals at randomly selected farms and DNA isolated by standard protocols in Zambia. A total of 10 primers, of the 20 evaluated for informativeness, were used in the RAPD-PCR analyses. Differences among the four breeds for all the three morphometric measurements were significant with the Barotse significantly higher than the other three (P<0.05). The average number of bands per primer was 7.1 and the percentage of polymorphic bands per primer ranged from 40 to 71.4 with an average of 64.8%.  Breed divergence was highest between the Tonga and the Barotse and lowest between the Tonga and Baila breeds.  Both the morphometric measurements and RAPD-based distance estimates suggest that the Barotse may be different from the other indigenous breeds while the Tonga and Baila were more closely related. In addition, the genetic distance estimates imply that the Holstein x Jersey crosses are different from the four Zambian indigenous cattle breeds evaluated. This thesis research provides, for the first time, the basic genetic information necessary for conservation of Zambian cattle breeds and the use of these populations for effective crossbreeding. The data suggest that though there is isolated by geographic distance and cultural differences among the tribes, two of the breeds are significantly related.

First molecular detection of pathogenic Leptospira in livestock from slaughterhouses in Madagascar

Identification: Rahelinirina, Soanandrasana

Credits: None available.

First molecular detection of pathogenic Leptospira in livestock from slaughterhouses in Madagascar
Soanandrasana Rahelinirina1, Mark Moseley2, Minoarisoa Rajerison1, Rakotoharinome Vincent Michel3, Sandra Telfer1,2
1Institut Pasteur de Madagascar, 2The University of Aberdeen, 3Direction des Services Vétérinaires Madagascar
Although leptospirosis has not been considered a significant health problem for humans or livestock in Madagascar, a recent serological study has shown evidence of exposure in humans and identified contact with cattle as a key risk factor.  However, the real role of livestock such as cattle and pig in the epidemiology of human leptospirosis in Madagascar remains to be elucidated. The aims of this study were to determine the prevalence of Leptospira among livestock in Madagascar and characterize the pathogenic Leptospira species found. Kidney and urine samples from 105 cattle and 100 pigs were collected from four slaughterhouses in Madagascar in 2015. The samples were tested by a quantitative real-time PCR TaqMan assay targeting the 16sRNA gene specific to pathogenic Leptospira. Where possible, sequencing of 200-300bp of the lfb1 gene was used to identify infecting Leptospira species. Cattle had a significantly higher overall prevalence than pigs (19% vs 5%). Cattle had 13 infections detected in kidney samples and 11 in urine samples, with only 4 individuals testing positive for both sample types. Of the positive pigs, only one infection was detected in kidney compared to four infections detected in urine.
Sequencing identified L. borgpetersenii and L. kirschneri in cattle. No lfb1 sequences were obtained from positive pig samples. This is the first molecular evidence of leptospirosis in livestock in Madagascar. The high prevalence in cattle provides further evidence that they could be an important source of infection for humans and also suggest that leptospirosis may have significant impacts on animal health and productivity. Moreover, our results highlight the need to consider sampling methodology when comparing studies and planning surveillance. Our results reinforce the need to take a one health approach for zoonoses like leptospirosis.

Can genomics enable genetic evaluations with phenotypes recorded on smallholder dairy farms?

Identification: Powell, Owen

Credits: None available.

Can genomics enable genetic evaluations with phenotypes recorded on smallholder dairy farms?
Owen Powell1, R. Chris Gaynor1, Janez Jenko1, Gregor Gorjanc1, Okeyo Mwai2, Raphael Mrode2,3 & John M. Hickey1
1The Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Easter Bush Research Centre, Midlothian EH25 9RG, UK; 2ILRI, International Livestock Research Institute; 3Scotland's Rural College (SRUC), Peter Wilson Building, Kings Buildings, West Mains Road, Edinburgh, EH9 3JG
Background: Genetic evaluation is a central component of genetic improvement programs. In advanced economies, most genetic evaluations depend on large quantities of data that are recorded on commercial farms. Large herd sizes and widespread use of artificial insemination enable the genetic and environmental components of an individual animal's phenotype to be accurately separated. In contrast to this, herds are neither large nor have high genetic connectedness in smallholder farming systems, such as in East Africa. This limits genetic evaluation with pedigree information. Genomic information keeps track of shared haplotypes rather than animals. This information could capture and strengthen connectedness between herds and through this may enable genetic evaluations based on phenotypes recorded on smallholder dairy farms. The objective of this study was to use simulation to quantify the power of genomic information to enable genetic evaluation under such conditions.
Results: The results from this study show; (i) GBLUP produced higher accuracies than PBLUP at all population sizes and herd sizes, (ii) Models with herd fitted as a random effect produced equal or higher accuracies than the model with herd fitted as a fixed effect across all herd size scenarios, (iii) At low levels of genetic connectedness, with four offspring per sire and one to two animals per herd, GBLUP produced EBV accuracies greater than 0.5. Generally, a decrease in the number of sires mated per generation showed consistently higher accuracies compared to when more sires were used.
Conclusions: This study has demonstrated the potential of genomic information to be an enabling technology in smallholder dairy economies by facilitating genetic evaluations with records collected from farms with herd sizes of four cows or less.  The inclusion of smallholder dairy data in genetic evaluations could provide increases in local and national milk production, in regions such as East Africa, with downstream impacts upon wider societal, nutritional and economic outcomes.

Interleukin-6 (−174G>C and −572G>C) Gene Promoter Polymorphisms, C-Reactive Protein and Glycated Haemoglobin as Predictor of Risk of Type II Diabetes Mellitus in Obese and Non Obese Subject

Identification: Oyekale, Adesola

Credits: None available.

Interleukin-6 (−174G>C and −572G>C) Gene Promoter Polymorphisms, C-Reactive Protein and Glycated Haemoglobin as Predictor of Risk of Type II Diabetes Mellitus in Obese and Non Obese Subject
Oyekale Adesole.O1*, Ayelagbe Olubunmi.G1, Ojurongbe Olusola2, Akeem Akindele. A3, Samuel Adedokun. A3
1Department of Chemical Pathology, 2Department of Medical microbiology and parasitology, 3Department of Community Medicine, College of Health Sciences, Ladoke Akintola University of Technology, Osogbo, Osun State, Nigeria
*Correspondence: Oyekale, Adesola Oyekunle
Background: Type 2 diabetes occur through the development of obesity related insulin resistance; more than forty percent of diabetes burden is attributable to obesity. Environmental risk factors attributed to the global increase in obesity include genetic predisposition, in Nigeria the prevalence of obesity and diabetes ranges from 3% and 22.2%, respectively. Obesity increases the risk of developing not only type 2 diabetes but also cardiovascular disease, stroke, osteoarthritis and some forms of cancers. Type 2 diabetes is associated with low-grade chronic inflammation resulting in part from the activation of the innate immune system. This activation leads to the release of pro-inflammatory cytokines such as interleukin-6, Nigeria is expected to be among worst hit by the epidemic with an anticipated 170% increase by 2020 in its prevalence. The aim of the propose study is to assess the association between Interleukin-6 (−174G>C and −572G>C) gene promoter polymorphisms, Interleukin-6 protein expression, C-Reactive Protein and Glycated Haemoglobin as Predictor of Risk of Type II Diabetes Mellitus in Obese and Non Obese Subject with the view to determine differences in the distribution of genetic and environmental risk factors that may be associated with the disorders.  
Methodology:      This structural proposed study is expected to span 2 years (2018-2020), cross-sectional sampling survey will be adopted in selection of 300 subjects aged between 20 and 60 years that fulfill inclusion criteria. The study has been approved by the Ethical Committee of state specialist Hospital Asubiaro Osun state, Nigeria. Five mls of fasting blood samples will be collected into a EDTA bottle to obtain sample for IL-6 geneno typing and glycated haemoglobin, and plain bottle, for the determination of lipid profile and inflammatory markers of compliment reactive protein, informed consent will be obtain from all subjects.
Methodology: Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) assays will be used to determine IL-6 gene polymorphisms, Amplification will be performed on an automated Thermal Cycler (Techne Flexigene, Cambridge, UK). Statistical analysis will be done using IBM Statistical Package for the Science Solution (SPSS) version 21.0 software package and graph pad prism 5.0 to determine the means, standard deviation, correlations and one-way analysis of variance (ANOVA) will be employ to determine variance among study groups.

Evolution of Plasmodium falciparum strains and resistance markers in pregnant women in Cameroon: 2008 - 2018

Identification: Abongwa, Acho

Credits: None available.

Evolution of Plasmodium falciparum strains and resistance markers in pregnant women in Cameroon: 2008 - 2018
Acho FA1, Esemu LF1, Yukie LS2, Njobe BK1, Meyahnwi D1, Belanquale CA1, Bigoga J1, Mbacham W1, Leke FGR1
1Biotechnology Centre, University of Yaoundé I, 2Department of Tropical Medicine, University of Hawaii
The genetic diversity of Plasmodium falciparum and the prevalence of antimalarial drug resistance markers have been extensively studied in various parts of the world. However, limited data is available on the genetic diversity of parasite infections in pregnant women and the temporal trend in the prevalence of these drug resistance markers. Blood samples were collected from 60 pregnant women in 2018 who had not received IPTp-SP. Sixty more samples, collected during a previous clinical trial carried out in 2008, from pregnant without a history of IPTp-SP use were included to compose a total sample size of 120. K1, MAD20 and RO33 allelic families of Pfmsp-1 were genotyped by nested PCR amplification. The prevalence of Pfdhfr N51I, C59R, S108N and Pfdhps A437G, K540E point mutations was determined by RFLP - PCR. A high genetic diversity was observed at both time points with 31 genotypes observed in the 2008 group and 34 genotypes in 2018. In contrast to studies in the general adult population, no single allelic family predominated. There was a significant increase in overall multiplicity of infection (MOI) from 4.42±1.819 in 2008 to 5.35±1.74 in 2018 and a marginal increase in Expected Heterozygosity (HE) from 0.8733 in 2008 to 0.897 in 2018. We found an increase in prevalence of the Pfdhfr/Pfdhps N51I, C59R, S108N/A437G quadruple mutation from 52.2% in 2008 to 75.5% in 2018 (p = 0.05319). There was a complete absence of Pfdhfr/Pfdhps quintuple mutants at both time points. No significant association was found between parasite strain and drug resistance markers (p = 0.852). The genetic diversity of Plasmodium falciparum populations in pregnant women was high. There was a marginally higher MOI and HE in 2018 than in 2008. The MOI was higher in pregnant women than reported MOI values in the general population. Our study confirms a fixation of N51I and C59R mutations in Pfdhps and Pfdhfr genes. The increase in prevalence of Pfdhfr/Pfdhps N51I, C59R, S108N/A437G quadruple mutations could herald a gradual loss in effectiveness of IPTp-SP.

Prevalence of the CYP 2B6 516 G>T and 983 T>C Polymorphisms and Association with the Development of Adverse Drug Reactions Among HIV/AIDS Patients in Yaounde, Cameroon

Identification: Nguefeu Nkenfou, Carine

Credits: None available.

Prevalence of the CYP 2B6 516 G>T and 983 T>C Polymorphisms and Association with the Development of Adverse Drug Reactions Among HIV/AIDS Patients in Yaounde, Cameroon
Carine Nguefeu Nkenfou1,2, Barbara Atogho Tiedeu1,2, Celine Nguefeu Nkenfou 3,4,5 ,Akindeh M. Nji1,2, Jean Paul Chedjou1,2, Calvino Tah Fomboh2, Charles Nkouanfack6, and Wilfred Fon Mbacham1,2,7  
1University of Yaoundé I, Cameroon; 2The Biotechnology Center, University of Yaoundé I, Yaoundé, Cameroon; 3Chantal Biya International Reference Centre for Research on HIV/AIDS Prevention and Management (CBIRC), Yaoundé, Cameroon;  4Higher Teachers' Training College, University of Yaoundé I, Cameroon; 5Molecular Biology Center Yaoundé, Cameroon; 6Central Hospital Yaoundé, Cameroon; 7University of Yaoundé I, Cameroon
It has been recognized for more than 50 years that genetic differences among people contribute to inter-individual differences in the response to treatment. Cytochrome P450 (CYP) 2B6 is an important hepatic isoenzyme responsible for the metabolism of non nucleosidereverse transcriptase inhibitors (NNRTIs) including Efavirenz (EFV) and Nevirapine (NVP) used in the treatment of HIV/AIDS. The CYP2B6 gene is known to be highly polymorphic and two Single nucleotide polymorphisms (SNPs) have been reported to commonly affect the metabolism of both NVP and EFV and thus associated to the development of adverse drug reactions (ADR). The aim of this study was to determine the prevalence of the CYP 2B6 516 G>T and 983 T>C polymorphisms and investigate their association with the development of adverse drugs reactions among HIV patients in Cameroon where HIV/AIDS still pose a significant public health problem. 
The study received an approval from the National Health Bioethics Committee of Cameroon. Patients consent was obtained prior blood samples collection. A repertoire of patients with and without adverse drug reactions was constituted after screening of clinical records. They were further contacted by phone calls and those who agreed to participate provided blood samples. The blood was spotted on filter paper for DNA extraction by chelex method. PCR-RFLP was performed with restriction enzymes BSrI and BSmAI for detection of CYP 2B6 SNPs. All data was entered on SPSS version 16.0 (SPSS Inc., USA) statistical software. Genotypes frequencies were compared between participants with or without adverse drug reactions. Frequency of the CYP 2B6 allele and genotypes in the study population was performed by descriptive statistics. The association between genotype and adverse effects of ART in the study population was assessed by binary logistic regression analysis.
The prevalence of extensive, intermediate and slow metabolizers was 8.2% GG, 65.6% GT and 26.2% TT respectively for the 516G>T and 89.3% TT, 4.1% CT and 6.6% CC respectively for the 983T>C polymorphism. Allele frequencies for the CYP2B6 516G>T SNP were 40.96% for G allele and 59.04% for C allele and allele frequencies for the CYP2B6 983T>C SNP were 94.4% for T allele and 5.6% for C allele. Association analysis revealed that homozygotes for the wild type allele (516GG) were likely to have some degree of protection against ADR susceptibility with a statistically significant difference (OR=0.885, P=0.029). For CYP2B6 T983C SNP we observed that homozygotes mutant (CC) have about a threefold higher risk to develop adverse reactions (OR=2.677) although the difference did not reach significance (P=0.164).
The results of this study showed that genetic variability in the metabolizing enzyme CYP 2B6 can be involved in adverse drug reactions susceptibility among HIV/AIDS patients under ART. These data may have implications for administration of non nucleoside reverse transcrptase inhibitors to Cameroonian patients.

Mitogenomic Analysis of Western Baggara Cattle Breed-Nyalawi Population Revealed High Level of Haplotype Diversity and Population Expansion

Identification: Kambal, Sumaya

Credits: None available.


Mitogenomic Analysis of Western Baggara Cattle Breed-Nyalawi Population Revealed High Level of Haplotype Diversity and Population Expansion
Sumaya Kambal1, Bashir Salim2
1Faculty of Animal Production Science and Technology, Sudan University of Science and Technology; 2Department of Parasitology, Faculty of Veterinary Medicine, University of Khartoum
Western Baggara cattle breed is naturally inhabiting the western regions of the Sudan, primarily raised by nomadic pastoralists in Darfur and Kurdofan states and ranked the best beef producing cattle breed in the country. This breed had structured phenotypically into three populations, Nyalawi, Rezaigi and Messairi. Decades to date, western Baggara cattle breed-Nyalawi population (WBCB-NP) is the most reputable beef cattle among the other types by its large size that contribute significantly to local meat consumption as well as to the export revenue. Knowledge-based breeding programs and conservation strategies are necessarily needed to aid in sustainable production and preservation of such population.
This study was undertaken to investigate the maternal genetic diversity and the demography dynamic by addressing whether this population had undergone demographic expansion, decline or equilibrium.
Genomic DNA was extracted from blood of 30 animals selected WBCB-NP and subjected to PCR targeting the entire mitochondrial DNA D-loop region and subsequently to DNA sequencing. This resulted in 43 polymorphic sites that defined 28 haplotypes of which 4 signatures of breed specific transition were detected when compared to bovine reference sequence. Genetic diversity indices revealed high level of haplotype diversity (1.000 ± 0.0091) and low level of nucleotide diversity (0.005 ± 0.0028) between these haplotypes that agreed with the Median Joining and Minimum Spanning networks' pattern, and the Neighbor Joining phylogenetic tree. The revealed unimodal pattern of the mismatch distribution among the haplotypes was in a good accordance with both the negative values of Tajima's D (-2.259; P= 0.000) and Fu's Fs (-25.671; P= 0.000) results that are significantly deviated from the neutral model, suggesting population demographic expansion event.
It is concluded that WBCB-NP is highly divers and had experienced a demographic growth. This study has raised important queries about the nature and the factors of this demographic expansion that can be compared with other populations of cattle for historical dynamics tracing purpose. Therefore, this research lays the groundwork for future research enhancing our understanding of Baggara breed as well as the other local cattle breeds. Further Bayesian analysis is required to trace the time series and nature of this population expansion.


Neuropsychiatric genetics in Africa: Building the research and the researchers together

Identification: Chibnik, Lori

Credits: None available.


Neuropsychiatric genetics in Africa: Building the research and the researchers together
Lori B. Chibnik1,2, Dickens Akena3, Lukoye Atwoli4, Symon M. Kariuki5,6, Charles R.J.C Newton5,6, Kristianna Post1,2, Dan J. Stein7, Anne Stevenson1,2, Rocky E. Stroud1,2, Solomon Teferra8, Zukiswa Zingela9, Bizu Gelaye1,2, Karestan C. Koenen1,2
1Harvard T.H. Chan School of Public Health, Boston, USA
2Broad Institute of MIT and Harvard, Cambridge, USA 
3Makerere University, Kampala, Uganda
4 Moi University, Eldoret, Kenya
5KEMRI-Wellcome Trust Research Programme, Kilifi, Kenya
6University of Oxford, Oxford, UK
7University of Cape Town, Cape Town, South Africa
8Addis Ababa University, Addis Ababa, Ethiopia
9Walter Sisulu University, Mthatha, South Africa
Both global mental health and neuropsychiatric genetics have made enormous strides in the past decade. However, these two fields have grown on parallel tracks, with little to no interaction. While recent advances in psychiatric genetics have identified over 100 genetic loci associated with schizophrenia that are now being used to inform translational research, large-scale genetic studies have primarily used only genomes with European ancestry. If this pattern continues, advances in genetics will be limited with the ensuing risk that therapeutic innovations leave out large segments of the global population. Researchers have launched a new initiative with the objective of improving the existing science and addressing issues of equity by growing research capacity through mentoring and training young scientists. This new program, the Neuropsychiatric Genetics of African Populations, includes a study on psychosis (NeuroGAP-Psychosis) which began collection in 2018 and aims to collect DNA and phenotypic data from more than 17,000 cases (schizophrenia and bipolar disorder) and 17,000 controls from four countries in Africa: Ethiopia, Kenya, South Africa, and Uganda, combined with a capacity building program, the Global Initiative for Neuropsychiatric Education in Research (GINGER).
Through a two-year Fellowship program GINGER combines in-person research workshops, virtual classroom activities and a series of courses run in collaboration with partner institutions in Africa. By combining research with training and mentoring we hope to ensure that the next generation is adequately prepared to take an active role in NeuroGAP-Psychosis, carry the research forward and be future leaders in the field of global neuropsychiatric genetics.