dIVISION OF hUMAN GENETICS
DEPARTMENT OF PAtHOLOGY, Faculty of Health Sciences
University of Cape Town
MSc and PhD (Human Genetics)Scholarships
Project
“Targeted next generation sequencing panel design for South Africans with inherited retinal diseases”
Background
Inherited Retinal Diseases (IRDs) are a group of disorders causing degeneration of the retina, and subsequent vision loss. It is estimated that ~14,500 South Africans (SA) could be suffering from vision loss due to IRDs. For this group of genetically and clinically heterogeneous diseases, a genetic diagnosis affords several benefits to the patient. However, the large number of IRD genes (>260) makes traditional molecular screening impractical, and Next Generation Sequencing (NGS) approaches are recommended. The Division of Human Genetics at the University of Cape Town has investigated IRDs in SA for more than 30 years,although indigenous African population groups have historically been under-represented in genomic research.
Further information about the IRD research programme and publications can be viewed at:
Project Description
The student(s) will be studying under the supervision of Prof Raj Ramesar and co-supervision ofDr Lisa Roberts.
The focus of these studies will be to investigate the spectrum of genes underlying IRDs in southern Africa, with the main objectives of: (1) Contributing to the existing knowledge of IRD genes in SA by performing whole exome sequencing (WES) analysis in a cohort of South African probands to identify disease-causing genes; and (2) designing and evaluating a targeted NGS panel which can be employed for the cost-effectivemolecular diagnosis of patients with monogenic IRD across all population groups in Southern Africa.
The student(s) will have the opportunity to: (i) Learn about genetics/genomics, (ii) Generate and analyzeWES data and (iii) Generate and analyze data from atargeted NGS panelwhich they design. To achieve these objectives, the student will receive training in genomics and bioinformatics,with an opportunity for a research visit (1-3 months) to an established genomics centre overseas.
Requirements – PhD student
- MSc degree in Human Molecular Genetics or closely-related discipline
- Experiencein techniques routinely used in molecular biology, including DNA extraction, optimizing and troubleshooting PCR, gel electrophoresis and direct sequencing. Knowledge of other genotyping methods will be advantageous.
- A good understanding of bioinformatics and statistic tools used in the analyses of large genomic datasets, e.g. whole exome sequencing (WES)
- Good writing, communication, and interpersonal skills
- Good time management and multi-tasking skills
- Positive attitude and inquisitive personality
- Self-motivated and hard working
- Ability to work independently
Requirements – MSc student
•BSc (Hons) degree in Human Molecular Genetics or closely-related discipline
•Experience in techniques used in molecular biology, including DNA extraction, optimizing and troubleshooting PCR, gel electrophoresis and direct sequencing.
•Basic bioinformatics skills used in the analyses of large genomic datasets, e.g. next generation sequencing (NGS) will be advantageous.
•Good writing, communication, and interpersonal skills
•Good time management and multi-tasking skills
•Positive attitude and inquisitive personality
•Self-motivated and hard working
•Seeks guidance appropriately, and follows instruction well.
Funding
The research project(s)are funded by Retina SA and the NRF andstudent funding will be available.
Applications
Please e-mail the following documents to Prof Raj Ramesar :
- Your full curriculum vitae
- Copies of academic transcripts
- A one page motivation explaining your experience and interest in the project
- Contact details for three referees
Deadline – 8th March 2018
The University of Cape Town reserves the right to: disqualify ineligible, incomplete and/or inappropriate applications; change the conditions of award or to make no awards at all.