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Brigham Center for Endocrine Genetics

The Brigham Center for Endocrine Genetics is a comprehensive clinical care center that provides a patient-centered approach to the diagnostic evaluation and clinical management of patients with endocrine disorders that have a known or suspected genetic etiology. Our clinic was inspired by a wish to help patients with suspected endocrine genetic disorders obtain exceptional clinical care in a single institution.

Given the complexity and wide range of symptoms associated with endocrine genetic disorders, we have assembled a multidisciplinary team to provide comprehensive medical care and facilitate appropriate diagnostic genetic testing. The Brigham Center for Endocrine Genetics is comprised of physicians, nurses, and genetic counselors with the complementary expertise and specialty skills necessary to provide compassionate and exceptional care to patients with endocrine genetic disorders. We work directly with surgeons, radiologists, pathologists, medical oncologists from Dana Farber Cancer Institute and colleagues from Boston Children's Hospital (BCH) to facilitate referrals and coordinate clinical decisions. Members of our center are also part of the BWH – BCH Transition of Care Clinic that provides continuity of care to patients with endocrine genetic disorders as they transition from pediatric to adult specialty care.

We are involved in specialty clinical care as well as cutting edge research related to endocrine disorders, and undiagnosed diseases. Our team of expert endocrinologists and genetic counselors are uniquely qualified to aid in the diagnosis and management of patients with different endocrine genetic disorders.

Some of the diagnoses indicated for the Center for Endocrine Genetics include:

  • Multiple Endocrine Neoplasia syndromes
  • Monogenic Diabetes
  • Hypophosphatasia
  • Inherited bone disorders, such as Osteogenesis Imperfecta and Osteopetrosis
  • Familial Hypocalciuric Hypercalcemia
  • Inherited disorders of mineral metabolism, such as X-Linked Hypophosphatemia and Pseudohypoparathyroidism
  • McCune Albright Syndrome
  • Familial Pituitary Adenomas
  • Sex chromosome disorders, such as Turner Syndrome and Klinefelter Syndrome
  • Prader-Willi Syndrome

Our team includes faculty of the Harvard Medical School with expertise in different sub-areas of endocrinology. The co-directors of the center are Dr. Ana Paula Abreu Metzger and Dr. J. Carl Pallais. Elizabeth Fieg, MS, CGC is the Lead Genetic Counselor.

Co-Director: Dr. Ana Paula Abreu Metzger, MD, PhD Dr. Abreu Metzger is an Associate Physician at BWH and has expertise in neuroendocrine, reproductive and a range of genetic disorders. Her research focuses on understanding the molecular mechanisms regulating the reproductive axis; identifying genes associated with pubertal and reproductive disorders and exploring genetic drivers of pituitary tumors. Her research has contributed to the understanding of the regulation of puberty initiation and she has identified the most common genetic cause of early onset of puberty caused central activation of the reproductive axis. Her ultimate goal is to use the research data to expand the knowledge about neuroendocrine disorders and develop tools for their management.

Co-Director: Dr. J. Carl Pallais MD, MPH. Dr. Pallais is the Master Clinician in Endocrinology at BWH and has extensive expertise in the evaluation of genetic endocrine disorders with a focus on skeletal diseases and abnormalities in mineral metabolism. He is a senior consultant for the Harvard clinical site of the Undiagnosed Diseases Network with broad expertise in the evaluation of complex endocrine patients. His genomics research of rare diseases, exploration of novel imaging modalities to advance clinical care, and participation in the international hypophosphatasia registry have helped advanced the clinical care of patients with rare genetic endocrine disorders.

Lead Genetic Counselor: Elizabeth Fieg, MS, CGC: Elizabeth Fieg is a certified clinical genetic counselor at Brigham and Women's Hospital. In addition to her clinical roles in Endocrine Genetics Clinic, Adult Genetics Clinic, and Pharmacogenomics Clinic, Elizabeth is the site coordinator and genetic counselor for the Harvard clinical site of the Undiagnosed Diseases Network, a research study designed to identify a diagnosis and causative etiology for cases of rare disease. She is also the program manager of Brigham Genomic Medicine, a research project through Brigham and Women's Hospital and Harvard Medical School related to genomic sequencing and novel gene discovery.

To make an appointment or for more information, please contact us:

Address: 221 Longwood Ave, Boston, MA 02115
Phone: (617) 732-5666
Fax: (617) 265-5220

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