Christopher P. Austin
National Center for Advancing Translational Sciences, National Institutes of Health
International Rare Diseases Research Consortium (IRDiRC)
08:30 on Friday, 21 October
Gaining access to available NIH rare diseases and translational research resources
13:45 on Friday, 21 October
Julia Ambler
Umduduzi – Hospice Care for Children
A case based palliative care approach to children with rare diseases
13:30 on Wednesday, 19 October
Gareth Baynam
Western Australian Department of Health
The Western Australian Register of Developmental Anomalies and Australian Aboriginal Genomics and Phenomics
15:30 on Thursday, 20 October
Louisa Bhengu
National Health Laboratory Service
A genetic approach for rare inherited metabolic diseases
13:30 on Wednesday, 19 October
Jacqui Bunge
The Children’s Therapy Centre
Early intervention and Neuromusculoskeletal Health
10:15 on Wednesday, 19 October
Henriette Burger
Stellenbosch University
Malignant Peripheral Nerve Sheath Tumours (MPNST) associated with Neurofibromatosis Type I: a case series and discussion of the implications for screening, referral and management in the Western Cape
10:15 on Wednesday, 19 October
Petra Burger
Hospice Palliative Care Associate (HPCA)
The “magic wand” to quality of life for persons with disabilities
13:30 on Wednesday, 19 October
João Carapinha
Carapinha & Company
African Overview of the Rare Disease field
09:00 on Thursday, 20 October
Raquel Castro
EURORDIS
Overcoming unmet social and daily life needs of people living with a
rare disease
08:30 on Saturday, 22 October
James Chipeta
University of Zambia School Of Medicine
Spectrum of Congenital anomalies among newborns from selected
Sub-Saharan African Tertiary Hospitals: Focus on Zambia
15:30 on Thursday, 20 October
Safiyya Dharssi
Pfizer
Analysis of rare disease global policies and programmes to advance access to care and treatment
08:30 on Friday, 21 October
Marli Dercksen
The Potchefstroom Laboratory for Inborn Errors of Metabolism
Hyperammonemia and inborn errors of metabolism (IEMS): Known and novel application for differential diagnosis
10:30 on Wednesday, 19 October
Benjamin Djoudalbaye
African Union Commission
Panel Discussion: Newborn Screening
15:30 on Wednesday, 19 October
Peta-Anne Durrant
Elsabé Klinck Consulting
Patient reimbursement rights
15:30 on Wednesday, 19 October
Monika Esser
Stellenbosch University
Diagnostics of rare diseases and PID in South Africa and Africa
13:15 on Thursday, 20 October
Karen Fieggen
University of Cape Town
An overview of Lysosomal Storage Disease
13:30 on Wednesday, 19 October
Andrea Fraser-Aldridge
The Children’s Therapy Centre
How we move matters
10:30 on Wednesday, 19 October
Stephen C. Groft
National Center for Advancing Translational Sciences
Global Overview of the Rare Disease field
09:00 on Thursday, 20 October
Chris Hendriksz
Salford Royal NHS Foundation Trust
Rare disease transition and your best chance of getting it right
10:15 on Wednesday, 19 October
Engela Honey
University of Pretoria
Rare Disease Diagnosis: The importance of a diagnosis in genetic counselling and management
13:30 on Wednesday, 19 October
Gary Kantor
University of Cape Town
Panel Discussion: Newborn Screening
15:30 on Wednesday, 19 October
Petra Kaufmann
National Institutes of Health
Catalysing progress: from discovery to health benefits through research collaboration
13:30 on Friday, 21 October
Narcisse Kimbassa
Western Cape Albinism Hypo-Pigment Foundation
Albinism: the stigma and what can be done
08:30 on Saturday, 22 October
Vuyiswa Lebese
National Department of Health South Africa
Surveillance and monitoring of CDs and patient registries in South Africa
09:00 on Wednesday, 19 October
Janine Lewis
Genetic and Rare Diseases Information Center (GARD)
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 diseases information
10:30 on Saturday, 22 October
Roan Louw
North-West University
The search for biomarkers in Mitochondrial disease: lessons learned from urine metabolomics investigations
13:30 on Wednesday, 19 October
Helen Malherbe
Genetic Alliance South Africa
Congenital Disorders in South Africa
15:30 Thursday, 20 October
Claudia McGregor
The Children’s Therapy Centre
Feeding Matters: Creating a seamless timeline from birth
10:15 on Wednesday, 19 October
Michelle Meiring
Paedspal Cape Town
The role of palliative care in rare diseases
13:30 on Wednesday, 19 October
Surita Meldau
University of Cape Town
Common inherited metabolic conditions in South Africa – diagnosing “rare” disease in genetically unique and understudied population groups
13:15 on Thursday, 20 October
Christine Mutena
Stepping Stones Kenya
Stepping Stones Kenya: what they do
10:30 on Saturday, 22 October
Ann Nordgren
Karolinska University Hospital
Genetic mechanisms behind congenital malformations and intellectual disabilities
15:30 on Thursday, 20 October
Rudy Onia
GlaxoSmithKline
GSK’s graduated approach to patents and intellectual property to widen access to medicines in the world’s poorest countries
11:00 on Friday, 21 October
Rajesh Patel
Board of Healthcare Funders of Southern Africa
National Health Insurance (NHI) developments and rare diseases
15:30 on Wednesday, 19 October
Melissa Platt
Quality of life from a parent’s perspective: Sam’s story
08:30 on Saturday, 22 October
Raj Ramesar
University of Cape Town
Applications to rare diseases from the H3 Africa Research Project
13:45 on Friday, 21 October
Inge Retief
Inge Retief & Associates
Session: Feeding Support – a multidisciplinary approach (title to be confirmed)
10:15 on Wednesday, 19 October
Eda Selebatso
Botswana Organisation for Rare Diseases (BORDIS)
Botswana Organisation for Rare Diseases – what it is all about
10:30 on Saturday, 22 October
Izelle Smuts
University of Pretoria
Overview on Mitochondrial disease
09:00 on Wednesday, 19 October
Maja Stojiljkovic
University of Belgrade
In vitro assays for characterization of novel rare genetic variants
13:45 on Friday, 21 October
Cynthia J. Tifft
National Institutes of Health (NIH)
The NIH Undiagnosed Network
13:15 on Thursday, 20 October
Francois van der Westhuizen
North-West University
Current diagnostic possibilities in South Africa (Mitochondrial Disease)
09:00 on Wednesday, 19 October
Tracey Venter
The Children’s Therapy Centre
Powerful implications of sensory development
10:15 on Wednesday, 19 October
Chris Vorster
The Potchefstroom Laboratory for Inborn Errors of Metabolism
Newborn screening and status in South Africa
13:15 on Thursday, 20 October
Anthony Westwood
Western Cape Department of Health
Developing an essential package of health care for children in South Africa: what should be in the box?
15:30 on Wednesday, 19 October