Saturday, 26 October 2024
16:00 – 18:00
Registration opening
PRE-CONFERENCE WORKSHOPS
11:00 – 17:30
ISPD satellite workshop on prenatal diagnostics
Programme
08:00 – 16:00
Young and Early Career Geneticists Group (YEGG) Symposium
Programme | Poster list
University of the Witwatersrand
Sunday, 27 October 2024
07:30
Registration opens
09:30 – 10:30
Tea on arrival
10:30
Welcome – Chair of Local Organising Committee
Prof. Zané Lombard, University of the Witwatersrand
10:40
Opening address – Chair of SASHG
Dr George Rebello, Genetix
10:50 – 12:30
SESSION 1 – GROWING GENOMIC MEDICINE PROSPECTS
Session chair – Prof. Michael Urban
10:50 – 11:20
The impact of genomics on prenatal diagnosis in the English National Health Service
Prof. Dame Lynn Chitty, University College London
11:20 – 11:30
Q&A
11:30 – 12:15
- A Southern African map of blood regulatory variation enables GWAS interpretation
Prof Michèle Ramsay, University of the Witwatersrand - Clinical relevance of double heterozygosity revealed by next-generation sequencing of homologous recombination repair pathway genes in South African breast cancer patients
Dr Nerina vd Merwe, National Health Laboratory Service & University of the Free State - Deciphering Developmental Disorders in Africa (DDD-Africa) study – lessons in diversity in an African Setting
Dr Nadia Carstens, SA Medical Research Council & University of the Witwatersrand
12:15 – 12:30
Q&A
12:30 – 13:30
Lunch break
13:30 – 15:00
SESSION 2 – PATIENT-FOCUSED PRACTICE
Session chair – Dr Nicole van der Merwe
13:30 – 14:00
Nngwe – one inclusive rare disease network for South Africa
Prof. Chris Vorster, North-West University
14:00 – 14:10
Q&A
14:10 – 14:42
- “I feel that if there’s somebody inside me” – Expectant parents’ experiences with continuing a pregnancy affected with a serious congenital abnormality
Malebo Malope, University of Cape Town & Stellenbosch University - Breast cancer genetic services in South Africa: testing, cascading and management
Tabitha Osler, University of the Witwatersrand - Rate and profile of secondary findings in 381 participants in the DDD-Africa from the DR Congo
Gerrye Mubungu, University of Kinshasa - Patient perspectives on emergency care for sickle cell disease in South Africa
Nabeelah Peerbhai, University of Cape Town
14:42 – 15:00
Q&A
15:00 – 16:30
Poster session 1 (Exhibition Hall)
Tea / coffee break
16:30 – 18:00
SESSION 3 – COMPLEX DISEASE GENETICS
Session chair – Prof Zané Lombard
16:30 – 17:00
Translational Genomics of Type 2 Diabetes
Prof. Eleftheria Zeggini, Helmholtz Centre Munich
17:00 – 17:10
Q&A
17:10 – 17:49
- Ancestry-aligned polygenic risk scores combined with conventional risk factors improve prediction of cardiometabolic outcomes in African populations
Dr Michelle Kamp, King’s College London & University of the Witwatersrand - Investigating DNA methylation of metabolic and inflammatory genes with therapeutic potential for obesity: a cohort study in South African women
Ayesha Shaik, Stellenbosch University - Genetic association and transferability for urinary albumin-creatinine ratio as a marker of kidney disease in four Sub-Saharan African populations and non-continental individuals of African ancestry
Dr Jean-Tristan Brandenburg, University of the Witwatersrand - Transforming genomic medicine in developing countries: the Lynch Syndrome experience in South Africa
Prof. Raj Ramesar, University of Cape Town
17:49 – 18:00
Q&A
18:00 – 20:00
Welcome cocktail
Monday, 28 October 2024
08:00
Registration
08:30 – 10:00
Special Session – SASHG Biennial General Meeting
Chair: Dr George Rebello, Genetix
10:00 – 10:30
Tea / coffee break
10:30 – 12:00
SESSION 4 – IMPROVING DIAGNOSTIC APPROACHES
Session chair – Dr Fiona Baine-Savanhu
10:30 – 11:00
Genomic innovations for undiagnosed rare diseases: systematic re-analysis and long-read genome sequencing
Prof. Alexander Hoischen, Radboud University Medical Center
11:00 – 11:10
Q&A
11:10 – 11:42
- Genetic testing for epilepsy in South Africa – finding a way
Dr Alina Esterhuizen, National Health Laboratory Service & University of Cape Town - Genetic contribution to high and low LDL-cholesterol levels in African populations
Natalie Smyth, University of the Witwatersrand - Exploring the genetic landscape of retinoblastoma in African cases: insights and implications
Indiana van Rensburg, University of Cape Town - Using whole genome sequencing to improve diagnostic and care in critically ill pediatric patients in Africa: a preliminary study from Kinshasa
Big Charles Bifu Wa Bifu, University of Kinshasa
11:42 – 12:00
Q&A
12:00 – 13:00
Lunch break
13:00 – 14:15
SESSION 5 – GENOMICS FOR AFRICA
Session chair – Mr Jaco Oosthuizen
13:00 – 13:25
Importance of WGS/WES in diagnosing genetic diseases
Dr Boutros Maroun, Illumina
13:25 – 14:05
- Expanding the human gut microbiome atlas of Africa
Dr Luicer Anne Olubayo, University of the Witwatersrand - Unique genome-wide methylation patterns within HIV disease
Dr Thilona Arumugam, University of KwaZulu-Natal - Breast cancer pharmacogenetics: a Botswana perspective
Keneuoe Nthontho, University of Botswana - Genome-wide association study identifies common variants associated with breast cancer in South African black women
Dr Mahtaab Hayat, University of the Witwatersrand - APOBEC3G polymorphisms are linked to the susceptibility of HIV-1 in a Ugandan pediatric cohort
Koketso Morapedi, University of Botswana & Institute of Health Sciences-Gaborone
14:05 – 14:15
Q&A
14:15 – 15:45
Poster session 2 (Exhibition Hall)
Tea / coffee break
15:45 – 17:15
SESSION 6 – RARE DISEASE BREAKTHROUGHS
Session chair – Prof. Amanda Krause
15:45 – 16:15
Accelerating research and service for rare and undiagnosed diseases in Africa
Prof. Aimé Lumaka, University of Kinshasa
16:15 – 16:25
Q&A
16:25 – 17:05
- Genetics study in 23 Congolese families with unexplained developmental disorders in the framework of the DDD-Africa project
Prince Makay, University of Kinshasa - Navigating the return of individual genomic research results from the NeuroDev study: clinically actionable findings for neurodevelopmental disorders in South Africa
Dr Zandre Bruwer, University of Cape Town - Personal pangenome graphs- a promising new tool for the evaluation of rare disease genomes in South Africa
Dr Melissa Nel, University of Cape Town - The genetic architecture of Retinitis Pigmentosa cases with unclear inheritance patterns
Motsatsi Makoala, University of Cape Town - The genetic and biochemical characterisation of multiple acyl-CoA dehydrogenase deficiency in a Southern African cohort
Dr Maryke Schoonen, North-West University
17:05 – 17:15
Q&A
17:15
Close of day
18:30 – 22:30
Conference gala dinner
(Social @ the Shebeen)
Tuesday, 29 October 2024
08:00
Registration
08:30 – 09:30
SPECIAL SESSION – MINUTE TO MENTOR (RSVP only)
Career Development advice from the Experts
Sponsored by the H3Africa & DS-I Africa Coordinating Centres
09:30 – 10:50
SESSION 7 – PATHWAYS TO ACCESSIBLE GENOMICS
Session chair – Fahmida Essop
09:30 – 10:37
New options in prenatal diagnosis: a potential pathway to affordable genomics in Africa
Prof. Brynn Levy, Columbia University Medical Center
The utilisation of genetic counselling services amongst prenatal healthcare providers in Gauteng, South Africa
Megan Duvenhage, National Health Laboratory Service & University of the Witwatersrand
CNV detection from exome sequencing data: outcomes from the DDD-Africa study
Nadja Louw, University of the Witwatersrand
Investigations into the effects of MPV17 deficiency on mitochondrial membrane potential in fibroblasts with or without exposure to NRTIs
Saara Adam, University of Cape Town
Impact of variants affecting DNA double-strand break repair recognition in hereditary breast and ovarian cancer susceptibility
Kholiwe Ntaita, National Health Laboratory Service & University of the Free State
10:37 – 10:50
Q&A
10:50 – 11:15
Tea / coffee break
11:15 – 12:30
SESSION 8 – SCALING UP GENOMICS IN AFRICA
Session moderator – Prof. Michele Ramsay
11:15 – 12:07
An update on the South African 110K Human Genomes Programme
Rizwana Mia, SA Medical Research Council
DIPLOMICS – support for scaling up genomics in South Africa
Dr Tim Newman, Centre for Proteomics and Genomics Research & DIPLOMICS
Building an African pangenome graph using long-read sequence data
Shaun Aron, University of the Witwatersrand
Developing an ethic-legal framework for the 110K South African Human Genome Program
Dr Ciara Staunton (co-author Donrich Thaldar), University of Kwazulu-Natal
12:07 – 12:37
Panel Discussion
Moderator – Prof. Michèle Ramsay, University of the Witwatersrand
12:307 – 13:07
CLOSING SESSION
- Acknowledgements
Jaco Oosthuizen, National Health Laboratory Service & University of the Free State - Announcement of prize winners
Prof. Michael Urban, National Health Laboratory Service & University of the Witwatersrand - Message from new Chair, Congress 2026 announcement
13:07
Closing of Conference