We are currently studying a number of diseases:
We recently identified a mutation in a gene HYOU1 that is associated with a distinct, heritable form of Renal Failure that displays early onset and often leads to the need for dialysis and transplantation. We are now developing cell culture models to study the impact of this gene mutation on cellular function.
We have identified the genomic region that is likely to hold the mutation responsible for a heritable form of Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC). Unfortunately genetic mapping, whole-exome sequencing and even whole genome sequencing have not yet revealed the underlying mutation. To delve further into the underlying cause of this disease, we are now developing induced pluripotent stem (iPS) cell models from blood cells (B-lymphocytes) and from these generating cardiomyocytes. This allows us to have a patient-derived cell model of ARVC to look for the genetic basis of the disease, using tools such as RNAseq, as well as a model to use in future screens for therapeutics to slow the progressive heart damage in patients.
Wilms’ Tumour is a common form of childhood cancer but heritable forms of this disease are quite rare. We have been studying a large extended family with a heritable form of the disease in search of the underlying genetic as well as epigenetic factors.
Gastric Cancer is among the leading causes of cancer related deaths worldwide. Again, heritable forms of the disease are rare, but understanding these rare forms is tremendously important to those at risk, and further can shed light on the disease more broadly. We recently identified genetic mutations in the MAK3K6 pathway responsible for a heritable form of this disease, and we are developing cellular models to better understand the disease process as a first step in the search for treatment strategies.
BRAF mutations are found in 7% of all cancers. Although specific drugs are available to target the mutated BRAF, not all cancers respond equally well to this despite testing positive for the mutation. We are investigating the utility of gene expression profiles as a possible prognostic tool in determining which tumours are likely to respond well to treatment.