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 inchildren 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.