Fibrodysplasia Ossificans Progressiva (FOP)
The progressive and rare genetic disorder known as fibrodysplasia ossificans progressiva (FOP) presents a unique challenge in the field of medical research and therapeutic. Our commitment to advancing FOP research through innovative approaches, and to support your research with our professional technicians and advanced technology.
Overview of FOP
Characterized by the formation of heterotopic bone, FOP significantly impacts the quality of life of individuals affected by the condition. With a prevalence of 0.5 cases per million individuals, from skeletal dysplasia to joint immobility and respiratory disorders, FOP presents a multifaceted symptom that necessitates a comprehensive approach to diagnosis and therapeutic.
Fig.1 Schematic representation of human ACVR1, its various domains and locations of the mutations that have been causally linked to FOP. (Kaliya-Perumal, A. K., et al., 2020)Pathogenesis of FOP
The underlying pathogenesis of FOP is associated with a mutation in the ACVR1 gene, which plays a critical role in bone and tissue development. This mutation triggers an abnormal signaling pathway that leads to the formation of extra bone in soft tissues, ultimately restricting movement and causing a myriad of complications such as speech and swallowing difficulties, airway limitations, and respiratory disorders.
Fig.2 Pathological pathway leading to heterotopic ossification and possible therapeutic strategies. (Smilde, B. J., et al., 2022)Diagnostics Development of FOP
Genetic testing serves as a valuable tool in confirming the presence of the ACVR1 mutation and guiding therapeutic decisions. Molecular genetic testing methods, ranging from gene-targeted testing to comprehensive genomic sequencing, offer insights into the underlying genetic mechanisms driving FOP.
Therapeutics of FOP
Small Molecule Drugs Therapy
Gene Therapy
Cell Therapy
Our Services
As a dedicated player in the field of rare disease research, our company stands at the forefront of FOP research and development. Our animal models and therapeutic development platform support you in exploring the mechanism and evaluating the therapeutic effect of FOP.
Therapy Development Platforms
Animal Models of FOP
Amidst the research landscape, animal models of FOP play a pivotal role in unraveling disease mechanisms, evaluating therapeutic modalities, and advancing scientific understanding. Our company can provide you with a variety of FOP models to help you understand the pathophysiology of FOP and test new therapeutic strategies.
| Physical-induced Models | ||
| Researchers induced ectopic ossification in animals by causing traumatic injuries or tissue damage, such as muscle injury or bone fracture, in specific experimental conditions. | ||
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| Genetically Engineered Models | ||
| Leveraging transgenic and gene editing techniques such as CRISPR/Cas9, researchers have been able to replicate genetic mutations seen in human individuals, providing a valuable tool for studying FOP pathophysiology and testing novel therapeutic strategies. | ||
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| Optional Species | Mice, Rats, Zebrafish, Fruit flies, Non-Human Primates, Others | |
With a team of skilled technicians and cutting-edge technology, we offer a comprehensive suite of services spanning all stages of research, from mechanistic exploration to therapeutic evaluation, including pharmacokinetics analysis and drug safety evaluation. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
References
- Smilde, Bernard J et al. "Monitoring and Management of Fibrodysplasia Ossificans Progressiva: Current Perspectives." Orthopedic research and reviews 14 (2022): 113-120.
- Kaliya-Perumal, Arun-Kumar et al. "Fibrodysplasia ossificans progressiva: current concepts from bench to bedside." Disease models & mechanisms 13.9 (2020): dmm046441.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.