Presentations

Alhaji Alhusine Jalloh | Development of a registry to optimise care of children with Duchenne
Benita Penfold | 22q112 Deletion or Duplication Syndrome
Betram Henderson | Fabry Disease: a complex multisystem disorder
Betram Henderson | Medical genetics services and role in diseases affecting multiple systems
Bianca Carzis | An evaluation of preimplantation genetic diagnosis outcomes in Johannesburg, South Africa
Boris Groisman | National Network of Congenital Anomalies of Argentina
Boris Groisman | Public health approach
Brigitte Glanzman | Exome sequencing of a primary immunodeficiency case identifies the first reported hemizygous mutation in MSN in South Africa
Busi Nkosi | Palliative care for children with rare diseases
Catherine Martin | Huntington’s Disease Youth Organisation
Chris Hendrickz | Challenges and possible solutions to access treatment for rare diseases
Chris Vorster | Impact and cost-effectiveness of newborn screening
Colin Noel | Diamond Blackfan Anaemia Africa
Elvira Singh | Landscape of cancer registration in South Africa
Eric Vilain | DSD: A world of uncertainty
Eric Vilain | Genetic diagnosis of disorder differences of sex development
Flavia Francies | Chromosomal aberrations induced by ionising radiation and Mitomycin C for Fanconi Anaemia Diagnosis
Gabi Lowe | Jenna Lowe Trust
Helen Malherbe | Overview of congenital disorders and rare diseases in South Africa
John Dewar | Neuroendocrine tumours
Julia Ambler | From head to the heart
Kelly du Plessis | Multidisciplinary approach
Keshika Sivnannan Narainsamy | Birth defects surveillance the way forward
Kiera Noel | Olive Childrens Foundation
Lauren Pretorius | Patient Huddle Session 1
Lauren Pretorius | Patient Huddle Session 2
Lauren Pretorius | Patient Huddle Session 3
Manala Makua | Neonatal mortality remains unacceptably high: no stone should remain unturned
Manala Makua | Role and structure of human genetics policy
Markye Schoonen | Mitochondrial disease in South Africa
Melissa Swanepoel | A pilot study evaluating depression in mothers with children diagnosed with Down Syndrome in state healthcare
Michael Howard | Breakthrough for Huntington’s disease
Michael Urban | Barriers to diagnosis of rare genetic diseases in the South African public sector
Molelekeng Sethuntsa | The development of a therapeutic approach for the treatment of individuals with Prader-Willi Syndrome and their primary caregivers
Neil Mckerrow | Common to rare
Peta Anne Durrant | The battle of the abbreviations
Portia Mutevedzi | Harnessing technology for innovative and efficient integrated disease surveillance and control
Sarah Walters | Pulling it together
Stacey Hanekom | Kidney Beanz Trust
Timothy Stones | Chasing the rainbows through the storms
Weronika Wojtowicz | Resourcing and sustaining an advocacy