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
- identifying the genetic loci responsible for BD,
- examining the relationship between personality factors and BD,
- providing the diagnostic tools that will improve ascertainment of the disorder, and
- 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.
Our recent progress will be documented soon in our 2016 edition of our 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 is a Master's student investigating the genetic basis of bipolar disorder using bioinformatics methodologies.
Maryanne Mufford is completing her BSc Honours by investigating the role of immune system variants in bipolar disorder.
BIPOLAR DISORDER: Previous Projects
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.
BSc Honours: Family-based association analysis of two candidate genes.
Dr Neil Horn
Glutamate genes in bipolar disorder.
BSc Honours: A case-control association study of candidate genes underlying the aetiology of bipolar disorder.
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.
MSc Dissertation: Elucidation of affective mood disorders: A convergent approach using genetics and imaging.
BSc Honours: Association of DGKH with bipolar disorder.
Dr Fleur Howells & Shareefa Dalvie
Chapter – Genetics of Substance Abuse and Molecular Biology.
Dr Fleur Howells
Cortical inhibition and attentional modulation.
Professor Jim Knowles
Whole genome sequencing of a bipolar individual.
BSc Honours: Novel variants associated bipolar disorder.
MSc Dissertation: Genetics of Lithium response in a South African cohort.
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
PhD Thesis: Structural and functional brain abnormalities after Methamphetamine abuse.