The Bipolar Research Team

From left: Sr Gameda Benefeld, Ms. Maryanne Mufford, Prof Raj Ramesar, Dr Shareefa Dalvie and Ms. Hannah-Ruth Engelbrecht

Bipolar Disorder (BD) is a serious neuropsychiatric condition that affects 1% of the population. Family, twin and adoption studies point to a strong genetic component in the aetiology of this disorder. Families with BD emerge from all the different population groups that inhabit the Southern tip of Africa. The aim is to investigate the molecular genetic basis of bipolar disorder in the South African population with the objectives of

  1. identifying the genetic loci responsible for BD,
  2. examining the relationship between personality factors and BD,
  3. providing the diagnostic tools that will improve ascertainment of the disorder, and
  4. providing a pathophysiological understanding of the disorder.

To date, a total of 948 individuals from 250 families have been recruited from all over South Africa. These individuals have provided us with blood or saliva samples for our DNA studies and some have undergone numerous neuropsychological tests, as well as a structured clinical interview for DSMIV Axis 1 (SCID). These tests have been assessed by a psychiatric panel and various papers have been published. These can be found here.

 Exciting advances in technology have allowed scientists to sequence all the nuclear DNA in an individual’s cell (also known as the genome) at a relatively affordable cost. This has enabled the move away from the traditional “candidate gene approach”, which limited us to investigating a specific number of genes, to consider a more global genetic view, in what is known as Next Generation Sequencing (NGS). Using this technology, we have sequenced the entire genomes of 4 affected individuals and 1 unaffected relative, of the same family, from our research group. As the field of Next Generation Sequencing is still in its infancy, we hope to discover new ways of analysis and develop a deeper understanding of the genetic basis of BD. For more information on Bipolar Disorder, see the Fact Sheet.

2013 Feedback Newsletter

2017 Feedback Newsletter

BIPOLAR DISORDER: Current Project Members


Dr Shareefa Dalvie:

Shareefa Dalvie is a postdoctoral research fellow. Her current research interests include the genetic basis of post-traumatic stress disorder (PTSD) and trauma exposure using genome-wide association (GWAS) data from the PTSD working group of the Psychiatric Genomics Consortium (PGC).

Hannah-Ruth Engelbrecht:

Hannah-Ruth Engelbrecht is a Master's student investigating the genetic basis of bipolar disorder using bioinformatics methodologies.

Maryanne Mufford:

Maryanne Mufford is a Master's student investigating the ‘Genetic Complexity of Schizophrenia and Obsessive-Compulsive Disorder'.

Ms Smangele Malema:

Ms Smangele Malema is an Honours student investigating the use of pathway analysis to select candidate variants for Bipolar disorder.


BIPOLAR DISORDER: Previous Projects


Maryanne Mufford:

BSc Honours: Investigating the role of immune system variants in bipolar disorder.


Dr Shareefa Dalvie

PhD Thesis: Genetic analysis of bipolar disorder and alcohol use disorder.

Dr Nastassja Koen

PhD Thesis: Psychological trauma and post-traumatic stress disorder in a South African birth cohort study.                     

Dr Anne Uhlmann


Reinette Weideman

MSc Dissertation: Genetics of Lithium response in a South African cohort.


Amy Roberts

BSc Honours: Novel variants associated bipolar disorder.


Professor Jim Knowles

Whole genome sequencing of a bipolar individual


Dr Fleur Howells & Shareefa Dalvie

Chapter – Genetics of Substance Abuse and Molecular Biology.

Dr Fleur Howells

Cortical inhibition and attentional modulation.


Dr Neil Horn

Neuro-imaging the effects of Mindfulness training in bipolar disorder.

Dr Janine Benson-Martin & Dr Neil Horn

Double blind within subjects investigation of the influence of BDNF genotype, hormonal status and Transcranial Magnetic Stimulation on the functions on mood and cognitive affective function.

Dr Henk Temmingh

Presentation and risk factors in the psychobiology of psychosis.

Dr Nizaar Lilla

M.Med Dissertation: Investigating the association between the presence of Psychotic features and response to Lithium- a retrospective analysis of 150 patients with bipolar disorder.

Shareefa Dalvie

MSc Dissertation: Elucidation of affective mood disorders: A convergent approach using genetics and imaging.

Julliette Delhove

BSc Honours: Association of DGKH with bipolar disorder.


Shareefa Dalvie

BSc Honours: A case-control association study of candidate genes underlying the aetiology of bipolar disorder.


Dr Neil Horn

Glutamate genes in bipolar disorder.


Dr Jonathan Savitz

PhD Thesis: The Molecular Genetics of Bipolar Affective Disorder: South African Populations, Endophenotypes and Environmental Influence.

Dr Cinda Cupido

PhD Thesis: The aim of this study was to identify susceptibility loci influencing BPD and attempted suicides (sub-phenotype), in South African families.

Jaqueline Meyer

BSc Honours: Family-based association analysis of two candidate genes.