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Staff Profile

Dr Brian Wilson

Visiting Clinical Researcher

Background

I trained as a Clinical Geneticist here in the Northern Genetics Service, began my consultant career at Great Ormond Street Hospital, London, and currently work in the South Australian Clinical Genetics Service.



Research

Cockayne syndrome

My main clinical and research interest is Cockayne syndrome (CS), a rare genetic disorder affecting children.  The main features of CS are restricted growth, microcephaly (having a small head), developmental delay, and a range of ageing-related problems, including cataracts, hearing loss, progressive weakness and stiffness, tremor and high blood pressure.  The average life expectancy is 8.4 years.

I have been privileged to work closely with the Amy and Friends Cockayne syndrome support group, which offers support to affected families internationally.  By working together with families, and with colleagues around the world, we have developed recommendations for care in CS and identified a potentially fatal adverse drug reaction only seen in this condition.

Metronidazole has been found to cause acute liver failure in all individuals with CS who have received this antibiotic.  This has been rapidly fatal in a number of cases.  Since publication in Pediatrics, the European Medicines Agency has recommended changes to metronidazole product information, and our findings have also been reported more widely.


Cancer

Over the last few years, I have collaborated with Dr Jennifer Munkley and Prof David Elliot on some of their exciting work on the emerging role of glycosylation in the development and progression of prostate cancer.  Together with Ruth Sutton of the Northern Genetics Service Molecular Genetics Laboratory


Keeping patients at the heart of genetics practice and research

In the age of genomics, lessons learned from individuals with new clinical presentations and novel genetic test results remain an essential aid to clinicians involved in the diagnosis and care of families affected by rare diseases.  I have been fortunate to work with enthusiastic clinical colleagues and excellent clinical scientists, in both Cytogenetics and Molecular Genetics, who have been keen to share new knowledge.  Together, we have contributed a number of reports to the medical literature that we hope will help clinicians and families who are undiagnosed

 
Publications