Genetic Disease Research

The division 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.

Barbara Burton, MD, studies the treatment and sequelae of phenylketonuria, and therapy for patients with mucopolysaccharidoses. Joel Charrow, MD, is engaged in studies of therapies for Pompe disease, and long-term outcomes in Gaucher disease.

Our current areas of study include:

  • Natural history of plexiform neurofibromas in children and adults with neurofibromatosis
  • Treatment of optic pathway tumors and plexiform neurofibromas in children with neurofibromatosis
  • 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

Select the links below to learn more about our clinical trials.