Postdoctoral Fellowship: Rare Disease Genomics

South Africa
Oct 16, 2020
Nov 14, 2020
Organization Type
University and College
Part Time
Stellenbosch University Division of Molecular Biology and Human Genetics

- Postdoctoral position available: Rare Disease Genomics -

Host/Location: Division of Molecular Biology and Human Genetics, Rare Disease Genomics Group, Tygerberg Campus

Value of Award: Competitive tax-free fellowship Duration: Two years, renewable upon sufficient funding

Summary: A rare disease (RD) is defined as one that affects fewer than 1 in 2000 people. Although individually rare, collectively there are over 7000 different RDs, which affect a significant proportion of the population and impact the lives of millions of South Africans. Over 80% of RDs are genetic in origin and most have their onset in childhood.

However, to date, people with RDs have been disproportionately underrepresented in terms of research, diagnosis and treatment, especially in Africa. Using conventional testing, patients remain on their diagnostic odysseys indefinitely. Next generation sequencing (NGS) technology has revolutionised diagnosis in RDs. The Rare Disease Genomics group has recently established an undiagnosed disease programme (UDP) at SU, to use state-of-the-art NGS technologies to end the diagnostic odyssey for South African patients with RDs.

We are seeking an enthusiastic postdoctoral fellow to join our multidisciplinary team, to oversee and develop the bioinformatics arm of the UDP. The successful candidate will benefit from working in a young, dynamic and diverse research group with national and international collaborations and numerous opportunities for further training.

Duties: Research
  • Analysing NGS datasets (whole exome and genome);
  • Analytical method development specifically suited to NGS technologies;
  • Data mining, analysis and interpretation;
  • Constructing and curating databases and specific computational tools;
  • Hypothesis generation for new scientific questions and research studies;
  • Manuscript and grant writing.

  • Overseeing the bioinformatics arm of the Rare Disease Genomics in South Africa: UDP project;
  • Contributing to study design and implementation - including student projects;
  • Developing key documents such as protocols, SOPs, etc.

  • Training students and other scientists;
  • Overseeing reporting and interpreting data.

Job requirements:
  • PhD in Human Genetics, Bioinformatics or a related field;
  • Experience with analysis of NGS datasets (exome and genome sequencing);
  • Experience with working in Linux environments;
  • Proficiency in common scripting languages (Python, R, other);
  • Sequencing analysis and pipeline design;
  • Experience in computational and statistical analysis of high-dimensional and multivariate data;
  • Comprehensive use of computational clusters and cloud-based computing;
  • Excellent organisational, planning and interpersonal skills;
  • High level of accountability, integrity and a good understanding of confidentiality.


The fellowship is tenable for two years with the possibility of a further extension, depending on available funding.

Please note that postdoctoral fellows are not appointed as employees at SU and are therefore not eligible for employee benefits. Postdoctoral fellowships are also awarded tax free.

Commencement of duties: January 2021 - negotiable

Closing date: 04 December 2020. Early applications are encouraged. We will stop the recruiting process as soon as we find a suitable candidate.

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