Influence of microbiota on innate immune responses and heterotopic ossification in fibrodysplasia ossificans progressiva (FOP)

Awardee: Daniel Perrien

Institution: Emory University

Award Amount: $40,000

Funding Period: February 1, 2021 - January 31, 2022


Summary:

Fibrodysplasia ossificans progressiva (FOP) is a currently untreatable genetic disease in which skeletal muscle repair is misdirected to endochondral bone formation (heterotopic ossification, HO) causing pain, muscle destruction, and joint fusion, leading to progressive immobilization and eventually premature death.  Despite the monogenetic cause of FOP (gain-of-function point mutations in ACVR1/ALK2), disease severity and progression vary widely among patients with the same mutation, suggesting additional factors such as background genetics, environmental, or nutritional influences can modify the course of disease. Exciting preliminary data demonstrate that ablation of the gut bacteria (microbiota) in FOP mice reduces injury induced EHO. This project will determine whether introduction of specific anti-inflammatory bacteria to the gut microbiota can regulate the severity of injury-induced flares in FOP mice. Unlike commercially available supplements, the probiotics in these studies will include highly potent live bacteria specifically selected for their newly discovered roles in regulating musculoskeletal diseases.  If our hypothesis is proven correct, these studies may form the foundation for a clinical trial in FOP patients and multiple applications for NIH funding.

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Role of the GM-CSF Pathway in Heterotopic Ossification Associated with Fibrodysplasia Ossificans Progressiva (FOP) and Novel Therapeutic Strategies to Suppress the Inflammatory Response

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JAK1/2 as a Central Regulator of iMCD Pathogenesis and Novel Therapeutic Target