The following grants were approved prior to July 2016
Ms Kao will undertake her Neurological Foundation Philip Wrightson Postdoctoral Fellowship at the Royal Holloway, University of London in the United Kingdom. Ms Kao will be supervised by Professor George Dickson, who holds a Chair in Molecular Cell Biology and has spent most of his career studying neuromuscular disease and muscle cell biology. Following the completion of her fellowship Ms Kao aims to return to New Zealand and become a principal investigator of her own research group.
An investigation into the role of Rpl3l and regulation of ribosome biogenesis in the pathogenesis of Duchenne muscular dystrophy: implications for novel therapeutic strategies
Investigating the role of a protein called Rpl3l in the muscular changes of a Muscular Dystrophy model: a new treatment target may be identified
Duchenne muscular dystrophy (DMD) is the most common fatal genetic disorder in childhood. It is caused by mutations in a gene called DMD that result in the absence of an important structural protein in muscle, called dystrophin. Absence of dystrophin results in progressive muscle weakness caused by pathological changes at the molecular level that are as yet poorly understood. A recent study revealed a protein called ‘Rpl3l’ may play a role in the pathological changes associated with DMD. Ms Kao’s fellowship aims to elucidate the role of Rpl3l in DMD and speculates that it could be targeted as a treatment for this devastating disease.
Sex-dimorphic brain development and disease: the role a non-coding RNA encoded within the Anti-Müllerian hormone locus
Shedding light on the nature of neurodevelopmental disorders depending upon the sex of the child
Susceptibility to many common neurological and psychiatric conditions differs and shows a dramatic sex basis – whether the person is male or female. Formation of the human brain during foetal development follows a slightly different path depending upon the sex of the child. These differences arise even before sex-hormones are produced. By determining how male and female sex impacts on the developing brain we hope to shed light on the nature of how sex differences to neurodevelopmental disorders arise.
Modelling Huntington’s Disease: Using direct cell reprogramming to study the mechanisms underlying a complex genetic neurodegenerative disorder
Creating a model of Huntington’s disease from patient skin cells to further understand the underlying mechanisms and cell death involved in this disorder
Huntington’s Disease (HD) is a highly debilitating genetic neurodegenerative disorder which is characterised by the progressive loss of specific brain cells. What drives this specific cell loss remains largely unknown, and consequently there is no treatment for this disease. Ms Monk’s project aims to generate a model of HD by reprogramming skin cells from patients into the specific brain cell type lost in this condition. This model will provide a novel platform for elucidating the complex mechanisms contributing to brain cell death, and will play an important role in the development of treatments for HD.
Recent onset transient or episodic headaches with concerning features: risk prediction, pre-test probability, and imaging selection
Differentiating patients with headache to identify serious and life-threatening brain bleeds
Episodic headaches are a widely experienced complaint. While the majority are due to benign processes, some headaches can herald serious and life‐threatening diseases. One such cause is a type of brain bleed known as a subarachnoid haemorrhage that can present initially as a ‘sentinel bleed’. This research aims to investigate the proportion of patients presenting with transient headache and concerning features that are later confirmed to have these serious brain bleeds. This information will help to identify these patients so that they receive the appropriate scans and treatment in a timely fashion that reduces potential serious illness.
Investigating inflammation in the Alzheimer’s Disease Olfactory Bulb
Investigating early inflammatory changes and their influences in the progression of Alzheimer’s Disease
While the most widely known symptom of Alzheimer’s disease (AD) is short term memory loss, one of the earliest symptoms is often a loss of the sense of smell. This symptom, known as anosmia, is thought to be due to olfactory neuron degeneration or insufficient replacement of olfactory neurons throughout life. Ms Swanson’s research will test the hypothesis that AD pathology is triggered by inflammatory processes in the olfactory bulb by studying post-mortem human brain tissue from the Neurological Foundation Human Brain Bank and using cultured cells. Ultimately, this research will provide insight into early changes occurring in the AD brain which will aid early detection and therapeutic intervention.