Research
The Division of Genetics is deeply committed to research and is currently involved in a number of clinical research projects related to the natural history, treatment and long-term outcomes of genetic diseases.
Examples include:
- Natural history of plexiform neurofibromas in children and adults with neurofibromatosis – 1.
- Treatment of optic pathway tumors and plexiform neurofibromas in children with neurofibromatosis – 1.
- Natural history of Gaucher disease, and the relationship between genotype and phenotype.
- Enzyme replacement therapy for children and adults with lysosomal storage diseases (Gaucher, Pompe and Fabry diseases).
- Long-term follow up of treatment for phenylketonuria (PKU).
- Identification of genes involved in the development of neural tube defects, such as spina bifida.
- Long-term follow up of children and adults with Marfan syndrome.