Our lab is interested in investigating the molecular basis of growth and its perturbations in patients with severe growth disorders. We use an integrated approach of cutting edge genomic techniques for novel gene discovery coupled with functional evaluation of genetic variants to understand the underlying mechanisms of growth failure. The identification of natural, pathophysiological mutations offers unique opportunities to better understand molecular mechanism(s) of actions, improve genotype-phenotype correlations which often are associated with co-morbidities, and, ultimately, provide a basis for improved therapeutic options and patient management.