Pediatric Genetic Disorders Research

The clinical research team in the Division of Genetics works on a variety of research studies. These include natural history studies which document the course of disorders before treatment and during treatment. We are also involved in Phase I (first in human) through Phase IV (post-FDA approval) clinical trials. The focus of these trials is to develop new therapies and improve existing therapies. Genetic disorders that are studied include:

  • Phenylketonuria (PKU), and other amino acid disorders
  • Neurofibromatosis
  • Fatty acid oxidation disorders
  • Urea cycle disorders
  • Achondroplasia
  • Lysosomal storage disorders
    • Mucopolysaccharidoses (MPS)
    • Metachromatic leukodystrophy (MLD)
    • Pompe disease
    • Fabry disease
    • Gaucher disease.

Questions or inquiries for any of the clinical research trials can be directed to Rachel Katz, Clinical Research Manager, at

Recent Genetic Disorder Research