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About the Lab
My research focuses on parathyroid function and disease. As a physician-scientist, I have the great fortune that my research spans the basic, translational, and clinical realms of the disease.
Our basic research focuses on the parathyroid-specific master regulator GCM2 and its mode of action as well as the alpha subunit of the G protein G11. Our translational projects include research on a long-acting PTH and its use in hypoparathyroidism. Our clinical studies focus on the long-term consequences of hypoparathyroidism and its current treatment, and on using PTH (1-84) for this disease
Mode of Action of GCM2, the essential parathyroid transcription factor
GCM2 is a transcription factor that is essential for the development of parathyroid glands. Our previous work showed that heterozygous mutations in GCM2 cause a familial form of hypoparathyroidism. We are currently investigating target genes and binding partners for this transcription factor, as well as the role of the continued expression of this transcription factor in adult parathyroid tissue.
Mutations in the alpha subunit of G11 and hypoparathyroidism
We found that heterozygous mutations in the alpha subunit of G11 can cause primary hypoparathyroidism; recent functional studies have shown that this mutant G protein fails to normally transmit the signal of the calcium-sensing receptor. Our research is aiming to unravel the function of G11 in the parathyroid glands.
Long-acting PTH for hypoparathyroidism
Dr. Mannstadt is the site-PI for the following clinical trials:
A 12-Month Open-label Study Investigating the Safety and Tolerability of NPSP558, a Recombinant Human Parathyroid Hormone (rhPTH [1-84]), for the Treatment of Adults with Hypoparathyroidism - A Clinical Extension Study (RACE). Learn more
A prospective, observational, natural history registry, designed to collect data on patients with chronic hypoparathyroidism. No study-defined procedures will be required, and if available, a select set of data will be collected at baseline and at least annually. Learn more
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