The molecular genetics of inherited liver disease: asphyxiating thoracic dystrophy and phenotypic diarrhoea of infancy

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I am proposing to study two devastating inherited conditions affecting the liver: asphyxiating thoracic dystrophy (ATD) and phenotypic diarrhoea of infancy (PDI). ATD affects many parts of the body. It varies in severity, from death in the first weeks of life to survival into adulthood. The syndrome may affect cilia (part of a cell), so studying ATD will also help our understanding of other disorders where cilia are affected. With PDI, child often develop liver disease as babies, but the life-threatening symptom is diarrhoea. By understanding the cause of diarrhoea, therapies can be developed which could also be used in other diarrhoeal conditions, a leading cause of disease and death in children worldwide.The aim is to identify the specific genetic defects (mutations) in key genes, so providing a robust test when either of the conditions are suspected on clinical grounds. This will help in counselling families and will also provide a prenatal diagnostic test. Researching how the disease gene affects the cell will also identify areas for specific medicines to treat the conditions.