08:30 – 09:00
Opening Ceremony
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09:00 – 09:45
Session 1: Introductory presentations
- Global overview of rare disease field – Stephen Groft, National Institutes of Health, USA
- African overview of the rare disease field – Joao L Carapinha, Carapinha & Company, South Africa
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10:15 – 12:15
Session 2: Open discussion groups (break-out sessions)
- Group A: Diagnostics
- Group B: Congenital malformation
- Group C: Global Rare Disease Policies and Programmes
- Group D: Access to treatment
- Group E: Research
- Group F: Improved quality of life
- Group G: Patient organisations
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13:15 – 15:00
Session 3: Obtaining a diagnosis through available diagnostic procedures
- Introduction: report from Group A
- The NIH Undiagnosed Network: hope for more families and links to the International Rare Diseases Community – Cynthia Tifft, National Institutes of Health, USA
- Behaviour and diagnostics in rare diseases – Petrus de Vries, University of Cape Town, South Africa
- Diagnosis for Primary Immunodeficiency (PID) by accessing available resources in South Africa – Monika Esser, Stellenbosch University, South Africa
- Newborn screening and status in South Africa – Chris Vorster, The Potchefstroom Laboratory for Inborn Errors of Metabolism (PLIEM), South Africa
- Common inherited metabolic conditions in South Africa: diagnosing “rare” disease in genetically unique and understudied population groups – Surita Meldau, University of Cape Town, South Africa
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15:30 – 17:15
Session 4: Congenital malformations
- Introduction: report from Group B
- Overview of congenital malformations and genetic mechanisms behind congenital malformations and intellectual disabilities – Ann Nordgren, Karolinska University Hospital, Sweden
- The Western Australian Register of Developmental Anomalies and Australian Aboriginal Genomics and Phenomics – Gareth Baynam, Western Australian Department of Health, Australia
- Congenital disorders and medical genetic services in South Africa – Helen Malherbe, Genetic Alliance South Africa, South Africa
- Specturm of congenital anomalies among newborns from selected Sub-Saharan African tertiary hospitals: focus on Zambia – James Chipeta, University of Zambia School of Medicine, Zambia
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