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Programme

PROVISIONAL PROGRAMME
*Subject to change

DAY 1 – TUESDAY, 11 MARCH 2025 – University of KwaZulu-Natal, Durban, South Africa

UKZN Address: Nelson R Mandela School of Medicine, K-RITH Tower Building 719 Umbilo Road

Time
09:15	Departure Shuttle from SS Elangeni Hotel to UKZN Medical Campus (transport will be run on a first come, first serve basis)
10:00 – 10:30	Oral Presentations by Students/Post-docs and Early-Career Researchers
	Venue: Room 1
10:11 – 10:23	Polygenic Prediction of Estimated Glomerular Filtration Rate in East Africa Christopher Kintu, Makerere University, Uganda
10:23 – 10:35	It feels morally not right to sell the data. Ethical and Social Perspectives on Human Genomic Data Sharing in Uganda — A Phenomenological Qualitative Study Deborah Ekusai Sebatta, Makerere University, Uganda
10:30 – 10:40	Tea/Coffee Break
10:40 – 12:00	Educational Workshop 1: Genome Sequencing (Exome Analysis)	Educational Workshop 2: Pangenome Workshop
	Venue: Room 1	Venue: Room 2
	Nara Sobreira, Johns Hopkins School of Medicine, USA	Karen Miga, UCSC, USA Mohammed Farahat, University of Cape Town, South Africa Erik Garrison, University of Tennessee, USA Andrea Guarracino, University of Tennessee, USA
12:00 – 13:00	Lunch Break
13:00 – 13:50	Mentoring Session with Academic / Industry Mentors
	Venue: Room 1
	ACADEMIC HUGO Executive Board Members Michele Ramsay, University of Witwatersrand, South Africa Alice Matimba, Wellcome Connecting Science, UK Giuseppe Novelli, Tor Vergata University of Rome, Italy Juergen Reichardt, James Cook University, Australia Journal Editors	INDUSTRY Ami Bhatt, Stanford University, USA Jin Billy Li, Stanford University, USA Michael Snyder, Stanford University, USA Anne Bowcock, Mount Sinai, USA
14:00 – 16:00	How to Series: How to Write a Grant / Paper
	Venue: Room 1
	Chair: Giuseppe Novelli, Tor Vergata University of Rome
	SPEAKERS Giuseppe Novelli, Tor Vergata University of Rome, Italy Anne Bowcock, Mount Sinai, USA Juergen Reichardt, James Cook University, Australia PANELISTS Ada Hamosh, Johns Hopkins University, USA Bruce Korf, AJHG, USA Laura Zahn, Cell Genomics, USA Nonia Pariente, PLOS Biology, UK
16:00 – 17:00	Seminar and Q & A Session with Journal Editors
	Venue: Room 1
	Nonia Pariente, PLOS Biology, UK Laura Zahn, Cell Genomics, USA Bruce Korf, AJHG, USA
13:00 – 17:00	Genetic Counselling Workshop (Virtual only)
	HUGO Genetic Counselling Sub-Committee Zilfalil Bin Alwi, Kelly Ormond, Alison McEwen, Maria Gil, Nakita Lang, Tina-Marié Wessels, Annie Hasan, Milena Paneque, Sultana Faradz, Monisha Sebastin, Merlene Peter, Ma-am Tumulak, Sook-Yee Yoon
17:30	Return Transport from UKZN Medical Campus to SS Elangeni Hotel

DAY 2 – WEDNESDAY, 12 MARCH 2025 - Southern Sun Elangeni & Maharani Hotel, Durban, South Africa

Time
07:30 – 18:00	Registration		Elangeni Suites 1 – 4
09:00 – 10:30	Educational Workshop 3: Variant Interpretation	Educational Workshop 4: All about Tools – ClinGen, ClinVar, GenCC, OMIM, GeneMatcher, gnomAD	Educational Workshop 5: Skills and Competencies for Multi- Disciplinary Genomic Healthcare	Ethics Workshop: Re-examining the Ethics and Law of Data Sovereignty: Population- Specific Reference Genomes and Common Heritage
	Venue: Great Ilanga	Venue: East Ilanga	Venue: North Ilanga	Venue: Suite 5
	Andreas Laner*, MGZ, Germany Robert Kuhn, UCSC, USA	Ada Hamosh, Johns Hopkins University, USA Erin Riggs, Geisinger Health System, USA Danielle Azzariti, Broad Institute of MIT and Havard, USA Nara Sobreira, Johns Hopkins School of Medicine, USA	HUGO Education Committee Dhavendra Kumar* Charlie Wray* Edward Tobias Carolyn Applegate* Ada Hamosh Andreas Laner* Sultana Faradz* Iscia Lopes-Cendes Julie Makani*	HUGO CELS Donrich Thaldar Benjamin Capps Michele Ramsay Karen Miga Freddy Mnyongani Paul Ogendi Kunal Sanghavi Click here to view the detailed programme.
10:30 – 11:00	Poster Session, Exhibition Viewing and Tea/Coffee Break		Elangeni Suites 1 – 4
11:00 – 12:30	Educational Workshop 3: Variant Interpretation	Educational Workshop 4: All about Tools – ClinGen, ClinVar, GenCC, OMIM, GeneMatcher, gnomAD	Educational Workshop 5: Skills and Competencies for Multi- Disciplinary Genomic Healthcare	Ethics Workshop: Re-examining the Ethics and Law of Data Sovereignty: Population- Specific Reference Genomes and Common Heritage
	Continued	Continued	Continued	Continued
12:30 – 13:30	Exhibition Viewing and Lunch Break		Elangeni Suites 1 – 4
12:30 – 13:30	Corporate Lunch Session 1 Venue: Great Ilanga Driving Success in National Genomics InitiativesUpdate on the Illumina African Screening Array Chip
13:30 – 14:00	Opening Address and Welcome
	Venue: Room 1
13:30 – 14:00	Ada Hamosh, Johns Hopkins University, USA Piero Carninci, Human Technopole, Italy Veron Ramsuran, University of Kwazulu-Natal, South Africa
14:00 – 14:35	Plenary Session 1: Hemoglobinopathies
	Venue: Great Ilanga
	Chair: Ada Hamosh, Johns Hopkins University, USA
	Genomics and Perspectives in Sickle Cell Disease Therapeutics Ambroise Wonkam, Johns Hopkins University, USA & University of Cape Town, South Africa
14:40 – 15:55	Genomic Diversity Plenary
	Venue: Great Ilanga
	Chair: Ada Hamosh, Johns Hopkins University, USA
14:40 – 15:15	The Human Pangenome Project: A Global Resource to Map Genomic Diversity Karen Miga, UCSC, USA
15:15 – 15:50	Diversity Improves All Aspects of Genomic Research: Lessons From 700,000 Human Exomes Konrad Karczewski, Broad Institute of MIT and Havard, USA
15:50 – 16:25	Data Governance and Policy Capacity-Building: Towards More Diverse Datasets Ma’n Zawati, McGill University, Canada
16:30 – 17:30	Poster Session, Exhibition Viewing and Tea/Coffee Break		Elangeni Suites 1 – 4
17:30 – 19:00	Panel Discussion Session: Insights on Initiatives Pangenomes and Genomic Diversity, African Genomes within/outside of Africa
	Venue: Great Ilanga
	Moderators: Ada Hamosh, Johns Hopkins University, USA and Alice Matimba, Wellcome Connecting Science, UK
	Maria Madalena Chimpolo, Agostinho Neto University, Angola Aime Lumaka, University of Kinshasa, DR Congo Manjinder Sandhu, Wellcome Sanger Institute, UK Iscia Lopes-Cendes, University of Campinas, Brazil Donrich Thaldar, University of Kwazulu-Natal, South Africa Karen Miga, UCSC, USA Konrad Karczewski, Broad Institute of MIT and Havard, USA Ma’n Zawati, McGill University, Canada Catalina Lopez-Correa, Genome Canada, Canada

DAY 3 – THURSDAY, 13 MARCH 2025 - Southern Sun Elangeni & Maharani Hotel, Durban, South Africa

08:00 – 18:00	Registration		Elangeni Foyer
09:00 – 10:15	Symposium 1: Implementation Challenges in Rare Disease	Symposium 2: Single-Cell Genomics and Diversity
	Venue: Great Ilanga	Venue: Suite 5
	Chair: Zilfalil Bin Alwi, Universiti Sains Malaysia, Malaysia	Chair: Piero Carninci, Human Technopole, Italy
09:00 – 09:25	African Rare Diseases Initiative: Advancing global Rare Diseases Research Aime Lumaka, University of Kinshasa, DR Congo	Asian Diversity in Human Immune Cells Shyam Prabhakar, AStar Singapore, Singapore*
09:25 – 09:50	The Impact of HiFi Sequencing on advancing rare disease Identification in the African population Sukhvinder Nicklen, PacBio, South Africa Melissa Nel, University of Cape Town, South Africa	Individual Cells Matter – Single-Cell Sequencing and Data Analysis Using Oxford Nanopore Technologies Nicki Adams, Oxford Nanopore Technologies, South Africa
09:50 – 10:02	Exploring The Genetic and Regulatory Landscape of Wilson’s Disease: Implications for Clinical Variability Srishti Sharma, CSIR, India	Investigation Of Malaria-Induced Changes in Monocyte Subsets: A Multi-Omics Approach to Unravel Markers of Disease Severity Armando Djiyou, University of Douala, MDRG, Cameroon and Novartis Biomedical Research, Switzerland
10:02 – 10:14	Genetic Landscape of Epilepsy in Mali: Findings from a Cohort of 188 Families Alassane Baneye Maiga, Universite des Sciences, des Techniques et des Technologies, Mali	Modeling Severe COVID-19 in TLR3-Mutated hiPSCs-Derived Lung Organoids Giuseppe Novelli, Tor Vergata University of Rome, Italy
10:15 – 11:45	Poster Session, Exhibition Viewing and Tea/Coffee Break		Elangeni Suites 1 – 4
11:45 – 12:20	Plenary 2: 110 000 Genomes in Africa
	Venue: Great Ilanga
	Chair: Veron Ramsuran, University of Kwazulu-Natal, South Africa
	The South African 110K Human Genome Program: Enabling a Big Data in Health Environment for African Personalised Medicine Rizwana Mia, SAMRC, South Africa
12:20 – 12:40	Exhibition Viewing and Lunch Break		Elangeni Suites 1 – 4
12:20 – 13:20	Corporate Lunch Session 2 Venue: Great Ilanga QIAGEN
13:20 – 14:30	Career Mentoring and Coaching Venue: Great Ilanga
14:30 – 15:45	Symposium 3: Implementation of Precision Medicine in African/LMIC Context	Symposium 4: Epigenetics and Environmental Genomics
	Venue: Great Ilanga	Venue: Suite 5
	Chair: George Rebello, SASHG, South Africa	Chair: Michael Snyder, Stanford University, USA
14:30 – 14:55	Harnessing the Power of Genomic Diversity in African Populations to Inform Precision Medicine Approaches Michele Ramsay, University of Witwatersrand, South Africa	Histone methylation: Roles in Rare Disease and Environmental Responses Hans Bjornsson, University of Iceland, Iceland
14:55 – 15:20	Bridging Gaps: Advancing Precision Medicine Implementation in Latin America’s Diverse Genomic Landscape Iscia Lopes-Cendes, University of Campinas, Brazil	Mechanisms of Epigenetic Inheritance in PTSD: Case of Rwanda after the 1994 genocide against the Tutsi Leon Mutesa, University of Rwanda, Rwanda
15:20 – 15:32	KidneyGenAfrica: A Multi-cohort Genome-wide Association Study and Assessment of Polygenic Prediction of Kidney Function in 110,000 Continental and Diasporan Africans Abram Kamiza, Medical Research Council, Uganda	MicroRNAs and Circular RNAs as Biomarkers for Amyotrophic Lateral Sclerosis (ALS) Damjan Glavac, University of Ljubljana, Slovenia and University of Maribor, Slovenia
15:32 – 15:44	Expanding ClinVar Contributions from African Populations to Promote the Equitable Practice of Genomic Medicine in Africa Nabeelah Peerbhai, University of Cape Town, South Africa	Fusaric Acid Induces Hepatic Global m6A RNA Methylation and Differential Expression of m6A Regulatory Genes In Vivo – A Pilot Study Terisha Ghazi, University of Kwa-Zulu Natal, South Africa
15:45 – 16:50	Poster Session, Exhibition Viewing and Tea/Coffee Break		Elangeni Suites 1 – 4
16:50 – 17:30	Plenary 3 & HUGO African Prize
	Venue: Great Ilanga
	Chair: Ada Hamosh, Johns Hopkins University, USA
	Data Governance Collet Dandara, University of Cape Town, South Africa
17:30 – 18:00	Special Talk – The WHO Genomics Programme of Work: Advancing Human Genomics for Global Health
	Venue: Great Ilanga
	Chair: Piero Carninci, Human Technopole, Italy
	Anna Laura Ross, Unit Head of Emerging Technologies, Research Prioritization, and Support at WHO, Switzerland

DAY 4 – FRIDAY, 14 MARCH 2025 - Southern Sun Elangeni & Maharani Hotel, Durban, South Africa

08:00 – 16:30	Registration	Elangeni Foyer
09:00 – 10:15	Symposium 5: Human Genome Co-Evolution and Population Genetics	Symposium 6: Bioinformatics (Machine Learning) and Artificial Intelligence for Molecular Medicine
	Venue: Great Ilanga	Venue: Suite 5
	Chair: Collet Dandara, University of Cape Town, South Africa	Chair: Veron Ramsuran, University of Kwazulu-Natal, South Africa
09:00 – 09:25	Mapping African Genetic Diversity for Novel Gene Discovery and Genetic Risk Prediction Segun Fatumo, Queen Mary University of London & MRC Uganda, UK	A Large Number of GWAS Loci of Immune-Related Diseases can be Explained by a Shared Mechanism Jin Billy Li, Stanford University, USA
09:25 – 09:37	Exploring regional diversity of relevant variants in African populations Nicola Mulder, University of Cape Town, South Africa	Enhancing Health Innovation through Sustainable African Data and Biospecimen Oversight: H3Africa DBAC to African DBAC Michelle Skelton, University of Cape Town, South Africa
09:37 – 09:50		Time-series Models for HIV-1 Gag Gene Mutation Frequencies from Uganda: A Machine Learning Approach Faridah Nassolo, Makerere University, Uganda
09:50 – 10:02	Assessing Genomic Diversity in African Populations and Developing Resources and Protocols for Genomics Research: H3Africa Genome Analysis Working Group Francis Agamah, University of Cape Town, South Africa	Characterizing the Role of 100 Cardiometabolic Candidate Genes Using CRISPR/Cas9, In Vivo Imaging and Deep Learning in Zebrafish Larvae Marcel den Hoed, Uppsala University, Sweden
10:02 – 10:14	Proteomics-Driven Discovery: Causal Proteins and Drug Targets for Type 2 Diabetes in a Continental African Population Opeyemi Soremekun, Helmholtz Munich, Germany and University of KwaZulu Natal, South Africa	Expression Analysis of the G6PD Gene in Malaria-Infected African Ancestry Populations: A Transcriptomic Approach Giovanna Câmara Giudicelli, Hospital de Clinicas de Porto Alegre and Universidade Federal do Rio Grande do Sul, Brazil
10:15 – 11:00	Poster Session, Exhibition Viewing and Tea/Coffee Break		Elangeni Suites 1 – 4
11:00 – 12:00	HUGO Chen Awards
	Venue: Great Ilanga
	Chair: Ada Hamosh, Johns Hopkins University, USA
11:00 – 11:30	Chen Award for Distinguished Academic Achievement in Human Genetic and Genomic Research Affordable Genomic Medicine for All: Need for High Throughput Biology Samir Brahmachari, CSIR, India
11:30 – 12:00	Chen Award of Excellence Collaborative Genome-Phenome Data Analysis Strategies for Rare Diseases Diagnosis Sergi Beltran, CNAG, Spain
12:00 – 13:30	Exhibition Viewing and Lunch Break		Elangeni Suites 1 – 4
13:00 – 13:30	Career Mentoring and Coaching (Academic and Industrial) Venue: Great Ilanga
13:30 – 14:20	Symposium 7: Cancer Genomics	Symposium 8: Microbiome and Metagenomics
	Venue: Great Ilanga	Venue: Suite 5
	Chair: Juergen Reichardt, James Cook University, Australia	Chair: Chair: Anne Bowcock, Mount Siani, USA
13:30 – 13:55	Transforming Genomic Medicine in Developing Countries: The Familal Cancer Experience in South Africa Raj Ramesar, University of Cape Town, South Africa	From Precise Microbiome Genomics to Precision Medicine Ami Bhatt, Stanford University, USA
13:55 – 14:07	A Comparative Analysis of Somatic Mutational Profiles According to HIV Status Among Women with Cervical Intraepithelial Neoplasia 3 (CIN3): A Focus on Hotspots in TP53, PIK3CA, PTEN, and EGFR Nosipho Mabizela, University of Cape Town, South Africa
14:07 – 14:20	Development of Targeted Therapies for Gene Fusion Positive Cancers Based on RNA Sensing and Editing Ching Lau, The Jackson Laboratory for Genomic Medicine, USA
14:20	Closing and Awards
	Venue: Great Ilanga
14:20	Poster Prize Introduction to HGM2026: Athens, Greece Closing