Spotlight on Michael Collins, MD

Dr. Michael Collins is not just a champion of hope, he is a champion of action.  As a globally renowned expert in the clinical care and treatment of fibrous dysplasia and McCune-Albright syndrome (FD/MAS), Dr. Collins has been a driving force for the FD/MAS patient community and for the Fibrous Dysplasia Foundation (FDF) since the inception of the organization in 2004. He continues to volunteer his time as an integral advisor to a small, determined group of patients who advance the vision of FDF.

Dr. Collins is a physician-scientist who trained in Endocrinology and Metabolism at the National Institutes of Health (NIH). He is currently a tenured Senior Investigator and Chief of the Skeletal Disorders and Mineral Homeostasis Section at the National Institute of Dental and Craniofacial Research at the NIH. His research is broadly focused on bone biology and mineral biology and FD/MAS is one of his major areas of focus.  He and his team have spent decades leading studies that have improved our understanding of the pathophysiology of FD/MAS and defined the standard of care for treatment.  His contributions have touched the lives of countless patients and families all over the world, who will continue to benefit for years to come. His ongoing work in this field serves as a beacon of hope to the FD/MAS community in their search for new knowledge and treatments.

In addition to his scientific work, Dr. Collins is committed to communicating with the patient community by spreading accurate and up-to-date information. Some of the many ways he volunteers his time include planning and appearing on free, live-streamed webinars on important topics for the FD/MAS community. He encourages other researchers and clinicians by collaborating with his colleagues around the world. He serves as a member of the Medical and Scientific Advisory Boards of the FDF. In addition to all of this work, Dr. Collins avails himself to parents and patients at all times of the day and night.

In addition to donating his time to the FDF, Dr. Collins has served for 15 years as the lead investigator of a natural history study of FD/MAS at the NIH. This study has led to numerous important insights, including identifying specific risk factors that lead to worse outcomes for patients and treatments to prevent those outcomes.

Some of Dr. Collins’ major accomplishments include:

1. Identifying several endocrine conditions that are commonly associated with FD/MAS, such as low blood phosphate, growth hormone excess, and hyperthyroidism, that can worsen FD and lead to worse outcomes. Furthermore, he was able to show that early diagnosis and treatment of these conditions can improve the lives of patients. Based on this work, he has developed and published concise algorithms for diagnosis and treatment of the endocrine problems that are associated with FD/MAS and made sure they are freely available to patients and families. This has led to an improvement in the lives of patients with FD/MAS on a global scale.

2. Collins’ team’s identification that hypophosphatemia, an important complication of FD/MAS, was caused by the overproduction by FD cells of the newly discovered hormone FGF23 was not only a breakthrough in the understanding of FD/MAS, but it was also a seminal contribution to the scientific bone field. It led to the discovery that bone is normally the source of FGF23, the master regulator of phosphate levels.

3. One of Dr. Collins’ major contributions was to develop a simple tool to measure the burden of FD that a patient has. This tool was instrumental in establishing the age- and skeletal region-specific acquisition of new FD lesions. Using this tool, he was able to prove that lesion acquisition is confined to early childhood and that few new lesions occur after childhood. This identified the age window during which FD prevention is confined and allows for significantly better prognostication for patients in families – no longer do parents need to worry that their child’s disease will continue to progress into adulthood. This tool has been widely adopted by investigators around the world.

4. Finally, a very important aspect of his work has been to identify treatments that do not work, including the potentially highly morbid surgical procedure of prophylactic optic nerve decompression and the orthopedic procedure of curettage and bone grafting.

Like many rare disorders, research and advocacy in FD/MAS present unique challenges, and Dr. Collins has worked tirelessly to overcome these barriers in his pursuit to improve the lives of patients with FD/MAS. Despite the extreme rarity of FD/MAS (estimated prevalence <1/100,000), he has amassed over 300 FD/MAS patients in the NIH’s natural history study, the world’s largest cohort of such patients. He succeeded in this accomplishment largely due to his dedication to the patient community. By spending countless hours communicating with individual patients and clinicians, Dr. Collins has achieved a rare level of trust and recognition, making participation in his studies highly sought-after in the FD/MAS community.

Clinical and research practices can vary greatly in different parts of the world, which can make it challenging to find the best ways to advance care for patients with rare diseases. To overcome these barriers, Dr. Collins has been instrumental in building an international community in FD/MAS.  He helped organize the first international conference on research and treatment of FD/MAS that was held in Washington DC in 2010 under the auspices of NIH and the FDF. This conference produced both a global consensus agenda for research and an agreed-upon set of published best practices to guide clinical practice. Dr. Collins is a founding member of the FD/MAS International Consortium, which includes researchers and clinicians from Italy, the Netherlands, Spain, Chile, and other countries. A major recent achievement of this group was to develop an updated set of guidelines for the diagnosis and treatment of FD/MAS that can be used all over the world. Dr. Collins served as the senior author for this high impact, open-access publication in

Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium. 

Dr. Collins also serves on the Scientific Advisory Panel of the Rare Bone Disease Alliance, where he further champions the care and treatment of patients with FD/MAS and other skeletal disorders.

Dr. Collins has been a source of loving counsel to hundreds of patients and their families on every aspect of this rare disease. He is the greatest source of hope for the treatment of hundreds of patients and the shining source of hope that someday soon FD/MAS will be a case study on how to cure a rare and very challenging disease.