His research and practice are focused on rare diseases in children, including:

Neurogenetics and developmental disorders
Neurometabolic disorders in general
Niemann-Pick disease, type C
Other lysosomal diseases (including glycoproteinoses)
Mitochondrial cytopathies
Congenital disorders of glycosylation
These are areas in which he has published more than 300 peer-reviewed papers and book chapters. He has presented widely throughout the United States and internationally, both to professional and lay organizations. Dr. Patterson has received funding support from NIH, industry and private foundations. He is currently an editor for the Journal of Inherited Metabolic Disease. He became editor-in-chief of the Journal of Child Neurology on Jan. 1, 2014, and subsequently editor-in-chief of its open-access sister journal, Child Neurology Open.