My research focuses on the biology of the parathyroid glands, in particular on: (1) understanding the genetic basis of familial hypoparathyroidism; (2) defining the mechanisms by which the newly identified genes and pathways impact parathyroid function; (3) using these insights to improve treatment for parathyroid disorders.
Key discoveries of my group include dominant-negative mutations in the master transcription factor GCM2 in humans and the first description of germline activating mutation in the G protein Ga11 in patients with hypoparathyroidism. This led to our current studies on the target genes and protein-binding partners of GCM2 using a novel knockin mouse model, and the mechanisms by which Ga11 mutations affect the parathyroid cells.
The clinical and translational aspect of our research includes the analysis of one of the largest patient series in hypoparathyroidism. This study reveals significant shortcomings of our current therapy. Thus we established an agenda to find more effective ways of treatment. I have been the lead author on the first phase 3 clinical trial using PTH as a replacement therapy in hypoparathyroidism, which was awarded the Translational Research Award at the 2014 MGH Clinical Research Day. In addition, I am the PI for an NIH sponsored project that will enable the introduction of a long-acting PTH analog, which was developed in the Endocrine Unit at the MGH, into the clinic.