DAY 1, Thursday 20 October
| 8.00-8.30 | Registration |
| 8.30-9.00 | Opening -John Forman, ICORD, New Zealand -Kelly du Plessis, Rare Disease South Africa, South Africa -Ms MP Matsoso, South African Director General of Health – Opening speech |
| 9.00-9.45 | Session 1. Introductory presentations Chair: John Forman, ICORD, New Zealand A) Global overview of the RD field– Stephen Groft, NIH, USA B) African overview of the RD field– Joao L. Carapinha, Carapinha & Company, South Africa |
| 9.45-10.15 | Coffee Break |
| 10.15-12.15 | Session 2. Open Discussion groups- Break-out sessions
Group A: Diagnostics (Facilitators: Ann Nordgren and James Chipeta) |
| 12.15-13.15 | LUNCH |
| 13.15-15.00 | Session 3. Obtaining a Diagnosis Through Available Diagnostic Procedures Chairs: Ann Nordgren, Karolinska University Hospital, Sweden and James Chipeta, University of Zambia School of Medicine, Zambia Introduction: Report from Discussion Group A –The NIH Undiagnosed Network – Cynthia Tifft, NIH, USA -Behaviour and diagnostics – Petrus de Vries, University of Cape Town, South Africa –Diagnosis for Primary Immunodeficiency (PID) by accessing available resources in South Africa – Monica Esser, Stellenbosch University, South Africa –Newborn screening and status in South Africa – Chris Voster, 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 |
| 15.00-15.30 | Coffee break |
| 15.30-17.15 | Session 4. Congenital malformations Chairs: Manuel Posada, Instituto de Salud Carlos III, Spain and Mike Urban, Stellenbosch University, South Africa Introduction: Report from Discussion 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 –Spectrum of congenital anomalies among newborns from selected Sub-Saharan African tertiary hospitals: focus on Zambia – James Chipeta, University of Zambia School of Medicine, Zambia |
| 17.30-19.30 | ICORD General Assembly – ICORD members only |
DAY 2, Friday 21 October
| 8.00-8.30 | Registration |
| 8.30-10.30 | Session 5. Global RD Policies and Programmes Chairs: Saffiya Dharssi, Pfizer, USA and Stephen Groft, NIH, USA Introduction: Report from Discussion Group C –UN committee for Rare Diseases – Anders Olauson, Ågrenska Foundation, Sweden –International Rare Diseases Research Consortium (IRDiRC) – Chris Austin, NIH, USA –A global approach to patient registries – Manuel Posada, Instituto de Salud Carlos III, Spain –Rare Diseases International – Durhane Wong-Rieger, Canadian Organization for Rare Disorders, Canada –Analysis of rare disease global policies & programmes to advance access to care and treatment – Safiyya Dharssi, Pfizer, USA |
| 10.30-11.00 | Coffee break |
| 11.00-12.45 | Session 6. Access to treatment Chairs: Emilio Roldan, SLADIMER, Argentina and Vinciane Pirard, Genzyme, Belgium Introduction: Report from Discussion Group D –Closing the gap: the World Federation of Hemophilia’s experience in responding to the challenges of a global rare disease – Alain Weill, World Federation of Hemophilia, Canada -Logistical aspects of access to treatment – Jason Blackman, Marken, South Africa –The need for innovative thinking to treat rare diseases in Africa – Kelly du Plessis, Rare Disease South Africa (RDSA), South Africa –Adoption of a flexible approach to intellectual property protection – Rudy Onia, GSK, South Africa –The difficulties in receiving access to high priced and orphan drugs: some thoughts – Marc Blockman, University of Cape Town, South Africa |
| 12.30-13.30 | LUNCH |
| 13.30-15.30 | Session 7. Research and research funding Chairs: Petra Kaufmann, NCATS/NIH, USA and Gareth Baynam, Western Australian Department of Health, Australia Introduction: Report from Discussion Group E –Gaining access to available NIH rare diseases and translational research resources – Christopher Austin, NCATS, NIH, USA –Catalysing progress from discovery to health benefits through research collaboration – Petra Kaufmann, ORDR/NCATS/NIH, USA -Applications to rare diseases from the H3 Africa Research Project – Raj Ramesar, University of Cape Town, South Africa –H3Africa BioNet and opportunities for rare disease research – Judith Kumuthini, University of Cape Town, South Africa -In vitro assays for characterization of novel rare genetic variants – Maja Stojiljkovic, University of Belgrade, Serbia –The NCATS Rare Diseases Clinical Research Network – Rashmi Gopal-Srivastava, NIH, USA |
| 15.30-16.30 | Session 8. Panel discussion – “Problem Board” |
| 16.30-18.00 | Session 9. Poster session with snacks |
| Friday night | Conference Dinner (separate dinner ticket required) |
DAY 3, Saturday 22 October
| 8.00-8.30 | Registration |
| 8.30-10.30 | Session 10. Improved quality of Life Chairs: Monica Esser, Stellenbosch University, South Africa and Kelly du Plessis, RDSA, South Africa Introduction: Report from Discussion Group F –Overcoming unmet social and daily life needs of people living with a rare disease (INNOVCare project) – Raquel Castro, EURORDIS, Spain –Albinism: the stigma and what can be done – Narcisse Kimbassa, Western Cape Albinism Hypo-Pigment Foundation, South Africa -Measuring the quality of life in patients with rare diseases and setting pragmatic treatment goals – Chris Hendriksz, Salford Royal NHS Foundation Trust, United Kingdom –Quality of life from a parent’s perspective: Sam’s story – Melissa Platt, South Africa –A program of the National Center for Advancing Translational Sciences: the Genetic and Rare Diseases information Center (GARD): 13 years of providing access to genetic and rare disease information – Janine Lewis, GARD, NCATS/NHGRI/NIH, USA |
| 10.30-11.00 | Coffee break |
| 11.00-12.30 | Session 11. Patient organisations: a panel discussion Chair: Durhane Wong-Rieger, Canadian Organization for Rare Disorders, Canada Introduction: Report from Discussion Group G –Patient organisations in Kenya – Christine Mutena, Stepping Stones, Kenya –Botswana Organisation for Rare Diseases (BORDIS) – what it’s all about – Eda Selebasto, BORDIS, Botswana –Overview of the Genetic Alliance South Africa – Helen Malherbe, Genetic Alliance South Africa, South Africa -Overview of Rare Diseases South Africa (RDSA) – Kelly du Plessis, RDSA, South Africa |
| 12.30-13.00 | Conference closing
-Benjamin Djoudalbaye (African Union Commission, Ethiopia) |