Prof Soraya Bardien
Soraya Bardien has a PhD in human genetics and has more than 15 years of experience with working on the genetic causes of various disorders. During her PhD she received training at the Baylor College of Medicine in Houston, USA, the University of Texas Southwestern Medical Center in Dallas, USA and the Institute of Ophthalmology in London, UK. She completed postdoctoral fellowships at various institutions in South Africa and is currently appointed as an Associate Professor at Stellenbosch University.
Prof Jonathan Carr
Prof. Jonathan Carr is a neurologist at Tygerberg Hospital and Stellenbosch University. He is currently working on a number of areas including stigma and attitudes of traditional healers towards Parkinson disease in the Xhosa population, and imaging of functional tremor with FDG-PET. Important collaborations include those with the University of Groningen regarding FDG-PET analysis of Parkinsonian subtypes and the International Parkinson and Movement Disorder Society (MDS) on methodology for video uploads from remote areas.
Project Title: Whole-genome sequencing of South African individuals with Parkinson's disease
Project description: Genetic studies are severely lacking in Sub-Saharan Africa (SSA), with past results indicating that the genetic risk factors and causes of Parkinson’s disease (PD) in SSA may differ from those in other populations. In collaboration with the Global Parkinson’s Genetics Program (GP2), this study will use cutting-edge whole genome sequencing (WGS) approaches to identify possible genetic causes of PD in South African individuals living with PD.
Ms Katelyn Cuttler
Project Title: Investigation of neurexin 2 as a candidate for Parkinson's disease
Project Description: A recent MSc study (B. Sebate) on a South African Afrikaner family with members diagnosed with autosomal dominant Parkinson's disease (PD) identified a novel putative pathogenic mutation in neurexin 2 (NRXN2). This protein is associated with pathways related to calcium channel regulation, transmembrane signalling receptor activity, neuronal cell adhesion, synaptic organization and neuroligin family protein binding at the synapse. It is also highly expressed in the substantia nigra, which is the main region of the brain affected by PD. Thus, this was the first study to implicate
NRXN2 in PD. Therefore, the aim of the present project is to determine if
NRXN2 is a candidate gene for PD by utilizing functional studies
Ms Nikita Pillay
Project Title: Whole Exome Sequencing Approaches for Novel Gene Discovery in South African Parkinson's Disease Families
Project Description: Genetic research into South African families has shown little causative correlation to the established Parkinson's Disease (PD) genes indicating that these PD patients may harbour novel causative genes. The advent of next generation sequencing (NGS) has made it possible for the identification of rare, highly penetrant variants in multi-incident family pedigrees. My study aims to develop and implement effective bioinformatic methods of NGS analysis to identify the pathogenic mutations underlying PD in South African multiplex families. This could provide insight into the 'missing heritability' of PD in underrepresented ethnic groups.
Ms Jessica Burns
PhD student / Research assistant
Project Title: Encapsulation of curcumin in nanoparticles for enhanced uptake across the blood-brain barrier for the treatment of Parkinson’s disease.
Project Description: Curcumin has been identified as a promising candidate in the search for disease-modifying therapeutics for PD. Curcumin has been found to prevent -synuclein overexpression and aggregation by enhancing its solubility. It has also been shown to inhibit mitochondrial toxicity and prevent ROS formation. Although curcumin is a promising candidate for the treatment of PD, several studies have concluded that the bioavailability of curcumin is low. In addition to its rapid metabolism and elimination, curcumin also struggles to cross the blood-brain barrier. Therefore, this study will look at the use of nanoparticles as a drug delivery system to improve these unfavorable characteristics of curcumin.
Ms Kathryn Step
Project title: Analysis of genetic data-sets to study Parkinson’s disease in a South African study collection
Project description: The present project consists of two aims. The first aim is to use the raw data generated from an international collaborative project (the Comprehensive Unbiased Risk Factor Assessment for Genetics and Environment in Parkinson’s Disease (Courage-PD)) in which we participated to identify disease-associated variants. The second aim is to collate all previous South African PD genetic data generated to determine if the variants are consistently shown across the different screening techniques completed in previous studies and to identify pathogenic variants that may have been missed in previous analyses. There are various bioinformatic algorithms that will be used to analyse the data throughout the research project.
PAST TEAM MEMBERS
Prof Helena Kuivaniemi
Mr Oluwafemi Gabriel Oluwole
Sister Debbie Acker
Dr William Haylett
Dr Annika Neethling
Ms Thea Heinemeyer
Mrs Monique Stemmet
Ms.Boiketlo Bibi Sebate
Dr. Karisha Roopnarain
Ms Amokelani Mahungu
Ms Caitlin McCaffrey
Ms Nicola Du Toit
Ms Minke Bekker
Ms Sinead Robberts
Ms Zuné Jansen van Rensburg
Ms Devina Chetty