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. Brad Angle, MD, was involved in a multicenter study of genetic copy-number variants in genomic disorders with extreme phenotypic heterogeneity. 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.