Major Research Areas
Sudden Infant Death Syndrome
The unexpected death of an infant usually in the first year of life is the major cause of death in the age group 1 month to 18 years within NZ. Our research has been two pronged.
- Involvement in multi-centre case control studies looking at epidemiological risk factors for SIDS.
- Exploring the underlying physiology especially with regard to autonomic function during sleep, thermo-regulation and how this may be involved in sudden infant death syndrome and in understanding further what controls the ability of a baby to awake.
Current projects in this area are looking at:
- The physiological differences in babies who sleep on their front compared to their back.
- Ability of infants to arouse, especially comparing infants who are born with low birth weight compared to normal birth weight, or exposed to smoking compared to not or during an infection and the recovery period.
- A third project is looking at the physiology of infants who are sleeping in bed with their parent especially where the parent smoked during pregnancy.
Sleep Related Breathing Disorders
Research into breathing disorders during sleep has evolved from our long interest in understanding normal and abnormal breathing during sleep in infancy (when the focus was on infants having apparent life threatening events). It has become increasingly clear that in both adults and children that disordered sleep can affect daytime attention span and learning. We are currently looking at sleep and breathing in children with ADHD as there is a suggestion that up to 25% of these children may have disordered sleep breathing.
National Mortality Review for Children
Dunedin has had a regular mortality review for deaths running regularly over the last 14 years. This has not been the case nationally and we are actively lobbying politically for the institution of this using national mechanisms and support.
Congenital Malformations in Children
The major focus of this research is to identify human genes that when genetically altered lead to structural abnormalities in children. Understanding the function and class of these genes and how they act will hopefully lead to new insights into how congenital malformations occur and devising strategies to prevent them. These studies are conducted on an international collaborative basis with scientists and clinicians from over 20 countries worldwide.
Specific studies presently underway include:
- Correlating mutations in genes encoding cytoskeletal signaling proteins to their clinical effect in humans
- Studying the biochemical function of proteins known to be altered in congenital malformations
- Identification of new genes underlying congenital malformation syndromes in humans and laboratory animals
Ethics and Clinical Genetics
The widening role of clinical genetics in medical practice over the last decade has brought with it new ethical questions. Analysis of these problems and recommendations for best practice must be formulated before such practices are widely applied if significant harms are to be avoided.
Our current research interests in this area include:
- Evaluation of the role of newborn testing for genetic susceptibility to multifactorial traits
- Ethical considerations in considering an expanded newborn screening programme
- The ethics of predictive genetic testing of children
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