I am the director for the biochemical genetics laboratory and clinical biochemical genetics fellowship at Cincinnati Children's Hospital Medical Center. I am also the chair for the newly created Matthew Steele Metabolic Annual Symposium at Cincinnati Children's. I have expertise in management of metabolic and lysosomal storage disease as well as participation in clinical trials of new therapies including gene transfer.
I am also the Director of the RASopathies program at Cincinnati Children’s, I have developed a comprehensive multidisciplinary program for the diagnosis, management, and treatment of patients with RASopathies. The focus of our efforts is to develop novel therapeutic approaches for genetic diseases.
Contribution to Science
Discovery and characterization of novel genetic disorders. I have discovered several novel genes associated with human disease including SLC25A46, VAMP2, CSDE1, and TAF1, and. Our group has a well-integrated clinical management program with gene discovery, and we have developed strong partnerships across the institution and international groups. We have also expanded the spectrum of known genetic disorders by the early adoption of exome sequencing in our clinical practice including disorders like galactosialidosis and more recently NAA10, NAA15, and DNMT3A.
Clinical and translation studies of the RASopathies. I have focused my clinical interest in studying the natural history of the RASopathies and the outcomes of current screening and management recommendations. I am particularly interested in understanding the biochemical and cellular abnormalities leading to different phenotypic manifestations. This will be the basis for biomarker identification and the development of prediction testing