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Dr. Emily Germain-Lee is an Associate Professor in the Division of Pediatric Endocrinology in the Department of Pediatrics at the Johns Hopkins University School of Medicine. She is the Director of the Johns Hopkins Pediatric Bone and Mineral Clinic and runs a General Endocrine clinic as well. She is Vice President and on the Board of Directors of the Human Growth Foundation. Dr. Germain-Lee received her Bachelor's degree in Biochemistry from Harvard University and her M.D. degree from Johns Hopkins University School of Medicine. Her internship and residency in Pediatrics as well as her fellowship in Pediatric Endocrinology were also completed at Johns Hopkins. She is Board Certified in both Pediatrics and Pediatric Endocrinology.

A main focus of Dr. Germain-Lee's research is Albright hereditary osteodystrophy (AHO), a rare genetic condition characterized by short stature, obesity, bony deposits under the skin, bone and tooth abnormalities, and developmental problems. There are two sub-types of AHO: pseudohypoparathyroidism type 1a characterized by resistance to certain hormones and pseudopseudohypoparathyroidism without hormonal resistance. Dr. Germain-Lee's research focuses on improving the overall health and quality of life of patients with AHO by developing new treatment modalities. She has spearheaded clinical trials for this condition. Dr. Germain-Lee's laboratory is currently examining a mouse model of AHO to understand more fully the etiology of the various clinical problems. Her goal is that the investigations utilizing the mouse model will provide insights into AHO which will lead to additional new treatments for patients with this condition.

Dr. Germain-Lee also works on Sturge-Weber Syndrome and has initiated efforts to characterize the growth hormone deficiency and other hormonal abnormalities that can occur in this syndrome. She is also part of a large multi-center trial investigating treatments for McCune-Albright Syndrome.


 
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