Our laboratory has identified mutations in RIT1 as novel molecular cause of Noonan syndrome and replicated the human phenotype in a Zebrafish model. We recruited additional patients with a clinical RASopathy phenotype without mutations in known disease genes and identified additional likely candidate genes, including SOS2. Ongoing work includes functional characterization of variants, development of molecular screening tools and animal models.
Complexity of Clinical Phenotypes
Our laboratory, in collaboration with the Department of Laboratory Medicine diagnoses individuals with MPS (Mucopolysacharidoses) and studies the metabolic and inflammatory pathways involved in the disease process using a multiple OMICs approach. The goal is to understand phenotypic variability among identical genotypes with the potential to identify therapeutic targets.
Precision Medicine and Preterm Birth (PMAP) study
We currently collect longitudinal data on the complex interplay of the environment, microbiome, proteome, metabolome, transcriptome, methylome and genome during term and preterm pregnancies, and post-natal infancy to understand the pathophysiology of preterm birth using a systems biology approach