Dr. Germain-Lee’s clinical research and laboratory investigations are focused on Albright hereditary osteodystrophy (AHO) and osteogenesis imperfecta (OI). In addition to conducting clinical trials, she is examining mouse models of both conditions. By combining clinical and laboratory studies, her goal is to develop new treatments for patients with AHO and OI.
Dr. Germain-Lee identified growth hormone deficiency to be common in patients with pseudohypoparathyroidism type 1a, a subtype of AHO, and she is evaluating the effects of growth hormone treatment on the overall health and quality of life of AHO patients in a large clinical trial. She is also examining the cognitive and behavioral disorders in this condition.
A major focus of Dr. Germain-Lee’s research is to determine the mechanisms of abnormal bone formation in both AHO and OI. These investigations have broad implications for all types of bone disorders.
Growth Hormone Use in Albright Hereditary Osteodystrophy
Clinical Trial Keywords:
Albright hereditary osteodsytrophy, pseudohypoparathyroidism, pseudopseudohypoparathryoidism
He L, Meng S, Germain-Lee EL, Radovick S, Wondisford FE. "Potential biomarker of metformin action." J Endocrinol. 2014 Jun;221(3):363-9. doi: 10.1530/JOE-14-0084. Epub 2014 Mar 17.
Muniyappa R, Warren MA, Zhao X, Aney SC, Courville AB, Chen KY, Brychta RJ, Germain-Lee EL, Weinstein LS, Skarulis MC. "Reduced insulin sensitivity in adults with pseudohypoparathyroidism type 1a." J Clin Endocrinol Metab. 2013 Nov;98(11):E1796-801. doi: 10.1210/jc.2013-1594. Epub 2013 Sep 12.
Siddique L, Sreenivasan A, Comi AM, Germain-Lee EL. "Importance of utilizing a sensitive free thyroxine assay in Sturge-Weber syndrome". J Child Neurol. 2013 Feb;28(2):269-74. doi: 10.1177/0883073812463606. Epub 2012 Oct 30.
Shapiro JR, Germain-Lee EL. "Osteogenesis imperfecta: effecting the transition from adolescent to adult medical care." J Musculoskelet Neuronal Interact. 2012 Mar;12(1):24-7.
Huso DL, Edie S, Levine MA, Schwindinger W, Wang Y, Jüppner H, Germain-Lee EL. "Heterotopic ossifications in a mouse model of albright hereditary osteodystrophy." PLoS One. 2011;6(6):e21755. doi: 10.1371/journal.pone.0021755. Epub 2011 Jun 29.