Britt Drögemöller

ADVERSE DRUG REACTIONS

Therapeutic drug treatments are an essential component of modern medicine;
however, their utility is limited by severe adverse drug reactions.

Using genome-wide association studies I have identified genetic variants that
contribute to the development of adverse drug reactions such as cisplatin-induced
hearing loss and L-asparaginase-induced pancreatitis. This information is
currently being used to develop strategies to prevent the occurrence of
these adverse drug reactions.

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NON-RESPONSE TO ANTIPSYCHOTICS

Antipsychotics are integral to the treatment of schizophrenia.
These treatments are only effective in approximately 60% of patients.

Using exome sequencing and I have identified genetic variants contributing to
non-response to antipsychotics. These data have provided insight into the
genetic variation present in South African schizophrenia patients and the
role that this variation plays in non-response to antipsychotics.

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RARE DISEASES

Whole genome/exome sequencing strategies provide the ability to identify
genetic variants causing rare and potentially treatable diseases.

I am part of the team that uses exome sequencing to identify genetic variants
contributing to inborn errors of metabolism. This work has resulted in
increased diagnosis rates and the testing of targeted interventions
in a subset of patients. 

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PHARMACOGENETICS IN THE CONTEXT OF AFRICA

The current disparities in genomics research and high burdens of disease
in Africa drive the need to perform pharmacogenomics research in Africa.

Using sequencing technologies, I have identified novel pharmacogenetic variants
that are present in African individuals. The identification of these variants has
contributed to improving phenotype-genotype correlations in individuals
of African descent.  

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