Genetics, Genomics, and Metabolism Research Program

Within the Division of Genetics, Genomics, and Metabolism, researchers are investigating the underlying mechanisms of and treatments for genetic and congenital disorders such as birth defects, intellectual disabilities, achondroplasia, genetic syndromes, and metabolic disorders. They’re doing this through various types of studies, including natural history studies, which document the course of disorders before and during treatment, and Phase I through Phase IV clinical trials, which focus on developing new therapies and improve existing therapies. Learn more about the Genetics, Genomics, and Metabolism Research Program.

Research Topics

Phenylketonuria (PKU)
Fatty Acid Oxidation Disorders
Urea Cycle Disorders
Lysosomal Storage Disorders
Mucopolysaccharidoses (MPS)
Metachromatic Leukodystrophy (MLD)
Pompe Disease
Fabry Disease
Gaucher Disease


Rachel Katz, Clinical Research Manager

Principal Investigator

Carlos E. Prada, MD

Dr. Prada's clinical work focuses on improving health for individuals with rare diseases by developing individualized and integrated care across specialties to promote their wellbeing. He has conducted randomized clinical trials of lysosomal storage disorders, neurofibromatosis type 1, RASopathies, mTORopathies, and several natural history studies of genetic disorders in partnership with family groups and foundations.