Rare Disease Expertise

Rare diseases affect a very small number of people worldwide, usually with a prevalence of fewer than 1 in 2,000 people. Spectrum of rare diseases and their phenotypes is very wide and includes several different symptoms. Many rare diseases have a phenotype in bone, for example osteogenesis imperfecta (OI), hypophosphatasia, fibrodysplasia ossificans progressive (FOP), and osteopetrosis. Pharmatest uses the expertise on skeletal research to characterize bone phenotypes related to rare diseases.

Preclinical model of Osteogenesis imperfecta

We have an animal model of Osteogenesis Imperfecta, a rare genetic disorder that affects the production of collagen and causes brittle bones prone to fractures. Researchers have divided this heterogeneous disease into at least 17 subtypes. Autosomal dominant mutations in the genes encoding type I collagen (COL1A1 and COL1A2) cause most cases of OI and classify them into subtypes I and IV.

Pharmatest provides a preclinical mouse model for osteogenesis imperfecta (OI) where ‘Amish variant’ mice with a G610C mutation in the Col1a2 gene are used. These mice, particularly when expressing the heterozygous form of this mutation (+/G610C), closely replicate human type IV osteogenesis imperfecta with a mild-to-moderate severity. Their phenotype showcases characteristics akin to the human condition, displaying reduced bone mineral density and compromised bone strength.

This model serves as a crucial tool in studying the pathology of osteogenesis imperfecta and evaluating potential therapeutic strategies aimed at mitigating the effects of this genetic disorder on bone health. Preclinical efficacy studies with animal models of OI provide first-hand information about the effects of new possible therapies before proceeding to clinical trials.

New Model Development

Pharmatest’s expertise in bone research enable us to offer tailor-made models that meet your unique research needs. We understand that each research project is distinct, and our dedicated team is committed to helping you achieve your goals efficiently. Whether you require modifications to our existing services or the development of a completely new model, Pharmatest is your partner in advancing your preclinical drug discovery process. We commit to providing ongoing support throughout the course of your research process. Our experts are available to address any questions, concerns, or modifications required as your research progresses.

Explore our rare disease research and the potential for groundbreaking solutions in the field of skeletal diseases. Contact us for more information.

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osteogenesis imperfecta - Rare bone disease