Speakers Presentations
| SUNDAY, 6 OCTOBER 2013 | ||
| SESSION 2: SA HUMAN GENOME PROGRAMME - Chair: Glaudina Loots | ||
| Ben Durham | Perspectives from the DST | |
| Michael Pepper | Objectives and future medical relevance of the SAHGP | |
| Himla Soodyall | The importance of understanding population history | |
| Nicola Mulder | Skills development for genome analysis and synergies with the objectives of H3Africa | |
| Raj Ramesar | The role of the SAHGP in education | |
| MONDAY, 7 OCTOBER 2013 | ||
| SESSION 3: CLARIFYING COMPLEXITY - Chair: Louise Warnich | ||
| Keynote: Anne Bowcock | Insights into the genetic basis of ocular (uveal) melanoma | |
| Jaysen Knezovich | The effect of chronic preconception paternal alcohol intake on sperm methylation signatures and subsequent gene expression in mouse offspring | |
| Tinashe Chikwore | Loss-of-function PCSK9 variants associated with sustained reductions in LDL-C levels amongst a Black South African population over a 5-year period | |
| Malcolm Collins | Association and interaction of the related types XI and V collagen genes with chronic Achilles tendinopathy in independent populations from South Africa and Australia | |
| Brigitte Glanzmann | A Pathway-based Approach to Identify Novel Parkinson's Disease (PD) Genes in the South African Afrikaner Population | |
| SESSION 4: COUNSELLING CONUNDRUMS - Chair: Mardelle Schoeman | ||
| Keynote: Christine Patch | Points of control of genetic testing | |
| Marianne Gomes | Inherited breast and ovarian cancer: a review of the available genetic counselling and testing services in Johannesburg | |
| Noelene Kinsley | Anxiety, Assurance, Ambiguity – to be or not to be? | |
| Tina Wessels | Risk communication in advanced maternal age genetic counselling sessions | |
| SESSION 5: TRANSLATION TRENDS - Chair: Zane Lombard | ||
| Nadia Carstens | Whole genome sequencing identifies putative primary congenital glaucoma causal gene in a South African family | |
| Britt Drogemoller | The identification of novel variants associated with antipsychotic treatment response through the use of exome sequencing | |
| Lisa Roberts | Next Generation Sequencing for Retinal Degenerative Disorders; speedbumps on the road to providing a genetic diagnosis. | |
| TUESDAY, 8 OCTOBER 2013 | |
| SESSION 6: DELVING INTO DELIVERY - Chair: Nat Khaole | |
| Keynote: Arnold Christianson | Attaining human dignity for people with birth defects |
| Vuyiswa Mtyongwe | National Birth Defects Data: 2006-2012 |
| Helen Malherbe | A comparison of genetics services specified in Policy Guidelines issued by the DoH in South Africa in 2001 and the Tertiary Definitions of 2013 and an evaluation of progress made to date |
| Jenny Kromberg | Genetic Services and Genetic Testing in South Africa |
| SESSION 7: CLINICAL CONVERSATIONS - Chair : Lizette Jansen van Rensburg | |
| Keynote: Anneke Lucassen | Cancer genetics: linking laboratory and clinical advances |
| Amanda Krause | Genetic testing for haemoglobinopathies in Johannessburg, South Africa: a 30-year review |
| Walburga Joko | Evaluation of a programme for Disorders of Sex Development (DSDs) management in Cameroon: What have we learnt? |
| Francois vd Westhuizen | Mitochondrial disorders in South African patients: a next generation sequencing approach to unravel the aetiology |
| Mike Urban | New evidence on the epidemiology of fetal alcohol syndrome in South Africa. |
| SESSION 8: AFRICAN AVENUES - Chair: Himla Soodyall | |
| Keynote: Mattias Jakobsson | Genomic variation in southern African San and Khoe groups |
| Carina Schlebusch | The introduction of pastoralism practices to southern Africa |
| Andrew May | Genetic diversity in black South Africans from Soweto |
| Ananyo Choudhury | Common population-specific SNPs identified by mining 1000 Genomes sequence data |
| WEDNESDAY, 9 OCTOBER 2013 | ||
| SESSION 9: GO GENETWORKING - CONCURRENT NETWORKING SESSIONS | ||
| STEM CELLS Chair: Robea Ballo |
PHARMACO- GENOMICS Chair: Collet Dandara |
MAKING SENSE OF SEQUENCING |
| Michael Pepper Mesenchymal stem cells – adult stem cells with potentially wide therapeutic applications |
Collet Dandara Translation pharmacogenomics: where are we in Africa? |
Carel van Heerden YES - I say to the question “Does SA have what it takes?” |
| Janine Scholefield & Danielle Smith Engineering cellular models of disease: Genetic surgery on stem cells. Differentiation of induced pluripotent stems cells – a focus on retinal degeneration |
Mongi Benjeddou Genetic variability of the multidrug and toxin extrusion 1 |
Ida van Jaarsveld NGS Bioinformatics: ‘Local is Lekker’ |
| Kevin Dzobo Fibroblast-derived matrix directs human embryonic stem cells towards endodermal cell differentiation through an early stage meso-endodermal phenotype |
Marco Alessandrini Defining the need for pharmacogenomic profiling: A perspective on cytochrome P450 |
Antonel Olckers Transforming Sequence to Product |
| Jacquie Greenberg Some proposed guidelines for an ethical approach to stem cell research in SA |
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| SESSION 10: FUTURE VIEW - Chair: Jacquie Greenberg | ||
| Keynote: Irmgard Nippert | Genetic testing services in emerging economies: the GenTEE (Genetic Testing in Emerging Economies) project |
| Raj Ramesar | Planning for Health in the Post-Genomic Era in Africa |
| Valerie Corfield | Raising public awareness of genetics: responsibilities and resources |
| Clinical Genetics Workshop | |
| Prof Conny van Ravenswaaij-Arts | Clinical interpretation and reporting of arrays in daily practice |
| Prof Anneke Lucassen | A practical approach to rare cancer syndromes |
| Prof Conny van Ravenswaaij-Arts | Genotype-Phenotype studies in Chromosome disorders |
| Prof Conny van Ravenswaaij-Arts | CHARGE syndrome |