Dr. Emily L. Germain-Lee, a world-renowned pediatric endocrinologist, has been recruited to UConn School of Medicine and Connecticut Children’s Medical Center from Johns Hopkins School of Medicine and the Kennedy Krieger Institute in Baltimore, Maryland.

On Oct. 28 she will join UConn Health as a professor in the Department of Pediatrics and chief of the Division of Pediatric Endocrinology at Connecticut Children’s Medical Center. Her research laboratory will be located at UConn Health and her clinical care performed at Connecticut Children’s.

Germain-Lee is an NIH-funded physician-scientist specializing in the clinical care and translational research of genetic and metabolic bone diseases. Her research at UConn Health and Connecticut Children’s will continue to focus on Albright Hereditary Osteodystrophy (AHO) and Osteogenesis Imperfecta (OI), two rare genetic bone disorders. Both conditions often lead to short stature, and AHO frequently involves severe hormonal dysfunction.

Germain-Lee has a distinguished history of caring for children and adults from around the world with Albright disease, a condition including two subtypes termed pseudohypoparathyroidism type 1a and pseudopseudohypoparathyroidism. Over the past two decades, she has built extensive clinical and research programs focused on AHO and currently follows the largest population of these patients worldwide. Her research interests also include other rare diseases leading to bone and/or endocrine abnormalities such as skeletal dysplasias and Sturge-Weber Syndrome.

“I am thrilled to become a part of the combined power of UConn School of Medicine and Connecticut Children’s Medical Center for advancing children’s health and discovering new treatments of disease through research,” says Germain-Lee. “My goal is to develop new therapeutics for children and adults living with genetic and metabolic bone disorders, thereby improving their overall health and quality of life. Together we can learn from our pediatric patients and laboratory discoveries to translate our comprehensive knowledge into the future treatments, prevention techniques, and cures needed for debilitating bone diseases.”

She adds, “I am greatly looking forward to my role in contributing to the training of future generations of physician-scientists at UConn and Connecticut Children’s, as well as working with such dedicated and high-caliber colleagues.”

AHO is caused by a defect in a key regulatory component of hormonal regulation that is important and ubiquitous in everyone. According to Germain-Lee investigation of this disorder, albeit a rare one, could potentially lead to therapies for many common conditions.

Germain-Lee has built a multi-faceted translational research program that combines both clinical studies and associated basic science research. Using a bedside-to-bench approach, she has been a leader in elucidating the pathogenesis of AHO, and she has then used these insights into disease mechanisms to improve standard of care for these patients. One of her major breakthroughs was the demonstration that defective intracellular signaling involving G proteins can lead to growth hormone deficiency in many AHO patients, and she has been the principal investigator on two clinical trials supported by R01 grants from the FDA aimed at investigating the potential benefits of growth hormone treatment in these patients. The results thus far are promising. She is continuing to investigate potential therapeutic strategies in AHO and other diseases using both clinical approaches and mouse models. In Sturge-Weber Syndrome, caused by another G protein defect, she has uncovered an increased prevalence of several hormonal deficiencies.

“Dr. Germain-Lee is a highly-accomplished physician-scientist and we are excited about her future leadership and contributions to the UConn School of Medicine and Connecticut Children’s,” says Dr. Bruce T. Liang, dean, UConn School of Medicine and director of The Pat and Jim Calhoun Cardiovascular Center at UConn Health. “Her joint recruitment to our institutions reflects our strong partnership and commitment to put our patients and the advancement of science first.”

“She has redefined the field of pediatric-endocrinology. Patients and families travel from all over the world seeking Dr. Germain-Lee’s care,” says Dr. Juan Salazar, chair of the Department of Pediatrics at UConn School of Medicine and chief of pediatrics at Connecticut Children’s. “We are excited a physician-scientist of her rank is joining our mission to offer top-notch clinical care and research excellence at UConn School of Medicine and Connecticut Children’s. Her recruitment symbolizes the committed bridge to cures partnership of UConn and Connecticut Children’s and our investment in the future health and bioscience breakthroughs for the children of our state and the world.”

“Dr. Germain-Lee is a world-class clinician-scientist,” says Dr. Jim Shmerling, CEO at Connecticut Children’s Medical Center. “We are honored that she has decided to join us and move her Albright specialty care center to Connecticut enhancing the health of pediatric endocrinology patients and biomedical research in our state.”

Germain-Lee joins from Johns Hopkins where she served as professor in the Department of Pediatrics. She was faculty at Johns Hopkins since 1992 and then also joined the Kennedy Krieger Institute in 2010, where she was the director of the Bone and OI Department, as well as the director of Bone Research and The Albright Clinic, which she established as the first clinic dedicated to the care of patients with AHO.

She attended Harvard for her undergraduate degree graduating magna cum laude in biochemical sciences and Johns Hopkins University School of Medicine for her medical degree. She completed both her internship and residency in pediatrics at Johns Hopkins along with her fellowship training in pediatric endocrinology. Germain-Lee has been very active in the teaching of medical students and received a Johns Hopkins Department of Pediatrics award for her dedication and outstanding contribution to medical student teaching.  She is also a long-time member of the Institutional Review Board at Johns Hopkins and co-director of the combined endocrine and genetics clinic in the Johns Hopkins Institute of Genetic Medicine. In addition, outside of Johns Hopkins and Kennedy Krieger, she serves as vice president and a member of the board of the Human Growth Foundation, acting as an advocate for patients with growth disorders. She is also a past editorial board member of the Journal of Clinical Endocrinology and Metabolism.