Twelfth H3Africa Consortium Meeting

VENUE: Kigali Convention Centre (KCC), Radisson Blu Hotel & Remera College of Medicine and Health Sciences Kigali Rwanda

Sunday 16 September
H3Africa Fellows Day/Environmental Health in Africa Workshop/Poster Sessions
Monday 17 September
H3Africa Principal Investigators /Working Group Sessions/Genomic Medicine & Translational Research/Poster Sessions
Tuesday 18 September
H3Africa Principal Investigators/ Sustainability Panel Discussion/Working Group Sessions/Poster Sessions
Wednesday 19 September
Joint African Society of Human Genetics and H3Africa
Thursday 20 September
African Society of Human Genetics
Friday 21 September
African Society of Human Genetics
Saturday 22 September
Next Generation Sequencing Workshop

Analysis for Monogenic Disease in Africa Populations

Sunday 23 September
Next Generation Sequencing Workshop

Analysis for Monogenic Disease in Africa Populations


7:30 Bus leaves Radisson Blu Hotel
8:00 – 8:30 Registration
8:30 – 9:10 Welcoming address by Prof Leon Mutesa, Associate Professor of Human Genetics, Director of Center for Human Genetics, College of Medicine and Health Sciences, University of Rwanda
SESSION 1: Eukaryotes


09:10 – 10:00 KEYNOTE speaker:
10:00 – 10:10 Ahouty Bernardin HLA-G 14-bp Ins associated with decreased risk of the human sleeping sickness within Côte d’Ivoire population
10:10 – 10:20 Windingoudi Justin Kabore Beyond GWAS: eQTL to assign function to SNP
10:20 – 10:30 Kolapo Oyebola Assessing human genetic polymorphisms and varying efficacy of artemisinin-based combination treatment of malaria in Nigeria
10:30 – 10:40 Diane Mutumwinka PiggyBac-based screening identified  BEM4 as a suppressor to rescue growth defects in och1-disrupted yeast cells
10:40 – 10:50 Yasmine Ochi Characterization of Inter-species Protein Interactions: Use of SLiM motifs to infer interactions between

Plasmodium falciparum and its hosts

10:50 – 11:00 Questions and discussion
SESSION 2: Bacteria and viruses


11:30 – 12:20 KEYNOTE: Prof Babatunde Salako, Director-General/CEO, Nigerian Institute of Medical Research (NIMR)
12:20 – 12:30 Benard Kulohoma Peripheral blood RNA gene expression in children with pneumococcal meningitis: a prospective case control study.
12:30 – 12:40 Busisiwe Mlotshwa Characterization of active TB disease establishment in HIV/ TB co-infected children in sub-Saharan Africa using integrated genomic analyses
12:40 – 12:50 Erdaw Tachbele Prevalence of Virological Failure and Acquired Drug Resistance Mutations detected by Deep Sequencing in virologic failures among Antiretroviral Treatment Experienced HIV-1 patients in South Omo, Ethiopia.
12:30 – 12:45 Felix Sizwe Dube Characterisation of lineage and locus-specific variations associated with of pneumococcal carriage dynamics post PCV-13 implementation in an African birth cohort: The Drakenstein Child Health Study
12:45– 12:55 Edgar Kigozi Practicability of Next Generation Sequencing in a Low income African Setting with A focus on Whole Genome Sequencing of Multi-drug Resistant M. tuberculosis isolates from Uganda
12:55 – 13:05 Marion Amujal Nonsynonymous genetic variants in chemokines and their cognate ligands important in HIV/AIDS disease progression in a Ugandan paediatric population attending Baylor College of Medicine children’s Foundation Clinical Centers of Excellence.
13:05 – 13:15 San James MicroGWAS: A fast, reliable and user-friendly web-based tool for Genome-wide analyses of microbe data
13:15 – 13:30 Questions and Discussion
13:30 – 14:15 LUNCH and POSTER SESSION
SESSION 3: Non-Infectious Diseases


14:15 – 14:25 Segun Fatumo Analysis of multiple related phenotypes in a sub-Saharan Africa population genome-wide association study
14:25 – 14:35 Edmond Wonkam Identifying new genes and variants involved in Hearing Impairment (HI) in Cameroon, using Next Generation Sequence (NGS) data
14:35 – 14:45 Ernestine Kubi Sickle Cell Trait and Chronic Kidney Disease
14:45 – 14:55 Gerrye Mubungu Lumbono Frequency of minor anomalies in Congolese newborn
14:55 – 15:05 Lord Gowans Missense Mutations in KIF4A Alter Dental Morphogenesis Resulting in X-linked Taurodontism, Microdontia and Dens-Invaginatus
15:05 – 15:15 Oladimeji Adebayo Genomic and environmental determinants of LVH among West Africans with stroke. Insight from Stroke Investigative Research and Education Network (SIREN) study
15:15 – 15:25 Gerald Mboowa Charting the Genetic Architecture of Clinically Relevant Variations from the Collaborative African Genomics Network (CAfGEN) Exomes Using ClinVar Database
15:25 – 15:35 Paul Katongole Role of gut microbiota in the pathogenesis of Prostate cancer in Sub-Saharan Africa
15:35 – 15:50 Questions and Discussion
15:50 – 16:15 Afternoon TEA/Coffee Break
Closing, announcement of awards and vote of thanks:


16:15 – 16:25 Vote of thanks
16:25 – 16:45 Announcement of H3Africa Fellows’ Day Presentation Prize Winners
16:45 – 17:00 Bus leaves to Radisson Blu Hotel
18:30 PIZZA DINNER at Filini KCC
Time Theme Activities and Speakers
7:00 Registration AD 12 Foyer
8:00 – 8:15 Welcome: Gwen Collman, Director of NIEHS Division of Extramural Research and Training

Charge of the workshop: Kim McAllister and Bonnie Joubert, NIEHS

8:15 – 8:30 History and Directions of the H3Africa Consortium

Michelle Skelton, University of Cape Town

8:30 – 9:00 Global Environmental and Occupational (GEO) Health The Michigan-West Africa GEOHealth Hub: Environmental Exposures due to Informal

E-waste Recycling Activities and the Health of Workers

Julius Fobil, University of Ghana

Exposure focus: electronic waste

9:00 – 9:30 East Africa GEOHealth Hub (Ethiopia): Ambient Air Pollution Exposure and Child Respiratory Health in Ethiopia, Uganda, Rwanda, and Kenya

Abera Kumie, Addis Ababa University

Exposure focus: ambient air pollution

9:30 – 9:45 Break
9:45 – 10:15 Biomarkers and Mechanisms Mycotoxin Biomarkers and Children’s Health in Africa: Translation of Basic Research to Public Health Prevention

Joshua Smith, Johns Hopkins University

Exposure focus: mold

10:15 – 10:45 Heavy Metal Exposure and Cardiometabolic Phenotypes

Cathrine Hoyo, North Carolina State University

Exposure focus: metals

10:45 – 11:15 Toxicodietary and Genetic Determinants of Susceptibility to Neurodegeneration in the Congo

Daniel Tshala Katumbay, Oregon Health Sciences University

Exposure focus: nutrition

11:15 – 13:00 Lunch and Poster Presentations
13:00 – 13:30 Environmental Exposures and Infectious Disease Indoor Residual Spraying for Malaria Control and Child Development in the South African VHEMBE birth cohort.

Jonathan Chevrier, McGill University, ISEE Africa Chapter

Exposure focus: pesticides

13:30 – 14:00 Trace Elements and Risk of Severe Malaria and Neurodevelopmental Impairment

Chandy John, Indiana University

Exposure focus: biomarkers of exposure and inflammation

14:00 – 14:15   Break

14:15 – 16:45
Panel Discussion

Chairs: Mark Nicol, University of Cape Town

Michele Ramsay, Wits University

Panelists: Kiros Berhane, University of Southern California

Brenda Eskenazi, University of California, Berkeley

Adrie Steyn, Africa Health Research Institute

16:45 Closing remarks: Gwen Collman, NIEHS
7:00 Registration MH 1 Foyer
AD 11 (Break Out Room) AD7 (Boardroom)
8:00-8:45 H3Africa Principal Investigators


Independent Expert Committee (IEC)
8:45-9:30 IEC & Funders
9:30-9:45 Tea/Coffee Poster Session MH 1 Foyer (15 min)
Working Group Session I
AD 7 AD 10 AD11 AD1
9:45-11:00 Phenotype Harmonization


Chair: TBA




Rapporteur: Robin Mason & Karen Lacourciere

Education & Coordinated Training WG

Chairs: Oumar Samassekou & Reginald Obiako


Rapporteur: Laura Povlich & Maria Giovanni

Biorepository WG



Chair: Elizabeth Mayne


Rapporteur: Gabriel Batzli

Environmental Health


Chairs: TBA



Rapporteur: Bonnie Joubert and Kimberly McAllister

Plenary Session I

MH 1

Chair: Barry Bloom

11:00-12:50 Genomic Medicine & Translational Research

Facilitators: Nicky Mulder & Jenniffer Maroa

12:50-13:50 Lunch (Auditorium Club Level 1 KCC) & Poster Sessions MH1 Foyer (60 min)
H3Africa PI Presentations Session I


Chair: Rex Chisholm

13:50-14:10 Project: H3Africa Administrative Coordinating Centre: Enabling and Supporting Genomics and Health Research Capacity Building in Africa

Title: H3ACC Updates

Presenter & PI: Michelle Skelton

Presentation: 15 min Q&A 5 min

14:10-14:30 Project: Transgenerational Epigenomics of Trauma and PTSD in Rwanda

Presenter & PI: Leon Mutesa

Presentation:  18 min Q&A 2 min

14:30-14:50 Project: AWI-Gen Phase 2: Genomic and environmental risk factors for cardiometabolic disease in Africans

Title: Genetic and environmental contributions to cardiometabolic diseases and related traits in Africans: AWI-Gen coming to fruition

Presenter & PI: Michele Ramsay

Presentation:  18 min Q&A 2 min

14:50-15:10 Project: Collaborative African Genomics Network (CAfGEN)

Title: Collaborative African Genomics Network (CAfGEN) Study Updates

Presenter & PI: Mogomotsi Matshaba

Presentation:  18 min Q&A 2min

15:10-15:30 Project: H3ABioNet: a sustainable African Bioinformatics Network for H3Africa

Title: H3ABioNet resources for H3Africa

Presenter & PI: Nicola Mulder

Presentation:  18 min Q&A: 2 min

15:30-15:50 Project: RHDGen: The Genetics of Rheumatic Heart Disease Network

Title: Tribute to Bongani Mayosi & Update from RHDGen

Presenters: Mark Engel & Babu Muhamed PI: Bongani Mayosi

Presentation:  18 min Q&A 2 min

15:50-16:05 Tea & Poster Session MH1 Foyer (15 min)
H3Africa PI Presentations Session II



Chair: Rex Chisholm

16:05-16:30 Project: Integrated Biorepository of H3Africa Uganda – IBRH3AU

PI: Moses Joloba

Project: IHVN H3Africa Biorepository (I-HAB) Initiative

PI: Alash’le Abimiku

Project: Establishment of an H3Africa Biorepository at Clinical Laboratory Services

PI: Elizabeth Mayne

Working Group Session II
AD 7 AD 10 AD 11 AD 1
16:30-18:00 Outreach & Communications


Chair: TBA





Rapporteurs: Barbara Sina & Deborah Ndlovu

Genome Analysis/ GAPW Sub Group


Chairs: Zane Lombard; Adebowale Adeyemo & Neil Hanchard

Rapporteur: Charles Rotimi & Gabriel Batzli





Chairs: Mogomotsi Matshaba & Francesc Xavier Gomez-Olive


Rapporteur: Sudha Srinivasan & Megan Hoffman




Chairs; Raj Ramesar & Dwomoa Adu




Rapporteur: Jennifer Troyer, Mark Guyer & Audrey Duncanson

Working Group Report Back Session I


Chair: Philip Awadalla

Working Group Presenter
18:00-18:40 Education & Coordinated Training Oumar Samassekou
Environmental Health Gwen Collman
Biorepository Elizabeth Mayne
Phenotype Harmonization TBA
Discussion & Feedback
19:00 Drinks Reception (The Larder/Hotel Pool Area/Rooftop Bar KCC) TBC Weather Dependent
19:30 Dinner at Filini Restaurant
8:00 Registration MH 1 Foyer
Working Group Session III
AD 6 (Boardroom) AD 7


AD 10 AD 11 AD 1 MH 1
8:00-8:30 Data & Biospecimen Access Committee (DBAC)


Chair: Akin Abayomi




Rapporteur: Jenniffer Maroa







Chair: Akinlolu Ojo & Sally Adebamowo



Jennifer Troyer

Ethics & Community Engagement WG



Chair: Aminu Yakubu & Paulina Tindana


Rapporteur: Ebony Madden & Katherine Littler

Study Coordinators





Chairs: Emmanuel Nasinghe & Keofentse Mathuba

Rapporteur: Robin Mason & Karen Lacourciere

Rare Disease





Chair: Zane Lombard





Megan Hoffman

8:30-9:30 DBAC WG

Chair: Nicola Mulder

Rapporteur: Audrey Duncanson

Plenary Session II

MH 1

Chairs: Raj Ramesar & Dwomoa Adu

9:30-11:00 Sustainability & Outreach                                                                                                                                                                                          Mini Presentations/Panel Discussion

Glaudina Loots; Peter Goodhand; Hans Hagen; Isayvani Naicker

11:00-11:15 Tea/Coffee Poster Session MH 1 Foyer (15 min)
AD 10 AD 11
11:15-12:15 Data Submission Session

Facilitator: Ayton Meintjes

H3Africa PI & DBAC
Plenary Session III

MH 1

Chair: Philip Awadalla

12:15-13:15 H3Africa Data & Biospecimen Catalogue

Presenters: Hocine Bendou & Nicola Mulder

13:15-14:15 Lunch (Auditorium Club Level 1 KCC) (60 min)
H3Africa PI Presentations Session III


Chair: Charmaine Royal

14:15-14:35 Project: West African Sustainable Leadership and Innovation Training in Bioinformatics Research (WASLITBRE)

Presenter: Ezekiel Adebiyi PI: Ezekiel Adebiyi, Peter Amoako-Yirenky, Seydou Doumbia

Presentation: 18 min Q&A: 2min

14:35-14:55 Project: West African Center of Excellence for Global Health Bioinformatics Research Training

Title: “A Bioinformatics Training Program in Mali: Approach, Perspective, and Sustainability”

Presenter:  Jeffrey Shaffer PI: Seydou Doumbia, Jian Li, Jeffrey Shaffer

Presentation: 13 min Q&A: 2min

14:55-15:15 Project & Presentation Title: Nurturing Genomics and Bioinformatics Research Capacity in Africa (BRecA)

Presenter: Daudi Jjingo PI: David Kateete, Daudi JJingo, Irving Jordan, Graeme Mardon

Presentation: 18 min Q&A: 2min

15:15-15:35 Project: Eastern Africa Network for Bioinformatics Training

Presenter: Daniel Masiga PI: Daniel Masiga

Presentation: 18 min Q&A: 2min

15:35-15:45 Tea/Coffee Break (10 min)
Plenary Session IV


Chair: Barry Bloom & Charmaine Royal

15:45-16:00 FAIR Data

Presenter: Nicola Mulder

Working Group Report Back Session II


Chair: Barry Bloom & Charmaine Royal

16:00 -17:00 Ethics & CE WG Aminu Yakubu & Paulina Tindana
Study Coordinators Emmanuel Nasinghe
Genome Analysis WG/GAPW Sub Group Adebowale Adeyemo & Neil Hanchard
Sustainability Raj Ramesar
Outreach & Communications TBA
CVD Michele Ramsay
HIV/AIDS Mogomotsi Matshaba
Rare Disease Zane Lombard
Discussion & IEC Feedback
Closing by Steering Committee Chair: Nicola Mulder
Tea available
AD 11 AD 1
17:10-18:50 H3Africa Steering Committee & IEC (18:30 DBAC Joins) CRF

Facilitator: Katherine Johnson

19:00 Drinks Reception KCC Main Foyer
19:30 Formal Dinner MH 1

Tribute to Professor Bongani Mayosi by Professor Raj Ramesar


7:30 Registration
9:00-11:00 Opening Session
10:00 Plenary 1 Presenter: Eric Green (USA)
10:50 Tribute to Bongani Mayosi
11:00-11:30 Tea
11:30-13:00 Session 1 – African population genetics
13:00-14:00 Lunch and Poster viewing (Promega – short trade talk)
14:00-15:30 Session 2 – Bioinformatics Training and Young researchers
15:30-16:00 Tea
16:00-17:30 Session 3 – H3Africa Consortium Showcase
17:30 – 18:45 Panel Discussion: Sustainability of Genomics and Human Genetics in Africa
19:00 Opening Reception
8:00 Registration
8:00 Workshop: Challenges in publishing from Africa
9:00-10:30 Session 4 Part 1 – Epigenomics and Functional Genomics
10:30-11:00 Tea
11:00-12:30 Session 5 Part 2 – Epigenomics and Functional Genomics
12:30-14:00 Lunch Box and Open Forum: Establishing a ‘2020 Vision’ for Genomics
14:00-15:30 Session 6 – Host Genetics and Infectious Disease
15:30-16:00 Tea
16:00 Panel Discussion: Translational genomics
17:00 AGM
19:00 Gala Dinner
8:00 Registration
8:00 Workshop: Career opportunities for young African geneticists
9:00-9:45 Plenary 2
9:45-11:10 Session 7 – Genomics of Rare Diseases
11:10-11:40 Tea
11:40-12:55 Session 8 – Ethics and Genomics in Africa
12:55-14:00 Lunch and Poster viewing
14:00-16:00 Session 9 – Complex Disease Genomics
16:00 Strategic planning for the AfSHG: Building skills and resources for genomics, epigenetics and bioinformatics research for Africa
17:30 AfSHG Committee Meeting
  Session detail Facilitator (s)
8.30 -9.00 (30 mins) Welcome and intro

·         Introduction/ workshop objectives

·         Getting to know each other exercise

·         Review workshop expectations


Paulina Tindana/Lillian Mutengu

9.00 – 9-30 (30 minutes) Overview

·         Types of engagement and related aims

·         H3Africa CE guidelines-Key highlights


Paulina Tindana/All




9.30-11.30 (2 hours) ·         Peer review and Group discussions on projects’ CE plans and needs

·         Discussions

COFFEE/TEA BREAK 11.30-12.00 (30mins)
12.00 – 1.30 (1 hour 30 mins) Evaluation of engagement methods

·         Overview of evaluation methods and questions and discussion

·         Group exercise

Dorcas Kamuya




LUNCH BREAK 13:30- 14:30 (1 hour)
2.30 – 4.30 (2 hours)



CE Evaluation support needs

·         Group work on developing/strengthening CE and Evaluation plans

·         Feedback

Lillian Mutengu/Victoria Nembaware



3.30-4.15 (45mins) ·         CE and feedback of findings (sharing aggregate research findings Paulina Tindana /Stuart Ali (AWIGen Experience)
4.30-5.15 (45mins) Brainstorm on proposed workplan for H3Africa CE activities

·         How can consortium members support each other?

·         MESH platform

·         External support needed?

·         small groups discuss/plenary feedback

·         Next steps




5.15-5.30 Brief evaluation and close Jantina de Vries
5.30 END  
7:30 Dinner (Venue: TBA)