FDF recently added a new article to our collection, an especially exciting publication from two of the world’s most renowned experts and leading figures on FDF’s Medical Advisory Council, Drs. Michael Collins and Alison Boyce.
“Fibrous Dysplasia/McCune-Albright Syndrome: A Rare, Mosaic Disease of Gα s Activation”, published in Endocrine Reviews in April of 2020 is the most extensive summary to date on FD/MAS and the state of FD/MAS research. “A piece in Endocrine Reviews is often more akin to writing a book than it is to an article,” explained Dr. Boyce. “Not only does this piece cover clinical care, but it also addresses basic and translational science of the disease, as well as future opportunities for research development.”
One interesting aspect of this publication is how Drs. Collins and Boyce define FD/MAS.
Previously addressed as two distinct diseases resulting from the same genetic mutation, this article instead emphasizes that both FD and MAS are variations on a spectrum of disease expression. “We make the case that what ties both diagnoses together is the same genetic mutation, the pathway that activates G alpha S,” said Dr. Boyce, “The disease has all these distinct features, and what any one patient experiences depends on how much of the body has the activating G alpha S mutation, and which tissues it’s activated in.”
Drs. Collins and Boyce’s article is an incredible resource for those interested in understanding FD/MAS on a technical and scientific level as well as those wondering about where the science may lead researchers next. Not all readers will be interested in such in-depth analysis, and Dr. Boyce recommends that patients and caregivers who are looking for quick and easy to follow clinical guidelines continue to reference and share with their care providers the recently published Clinical Pathway.
A Well-Deserved Honor for Drs. Collins and Boyce
It’s a great honor for a disease to be represented in Endocrine Reviews and often a once in a career opportunity for the esteemed few who are selected to publish a piece within this Journal. “Those who have met Drs. Collins and Boyce are familiar with their expertise and compassionate care,” said Adrienne McBride, FDF’s Executive Director, “But the impact of these two experts goes far beyond their clinical caseload. Anyone who uses FDF as a resource is benefitting from the time, expertise, and leadership that they have generously shared with the FD/MAS community via the FDF.” In addition to being a comprehensive review, this notable publication is a remarkable achievement and a well-deserved honor for both Drs. Collins and Boyce.