Achondroplasia

The genetic disorder Achondroplasia stands as the leading cause of dwarfism which results in abnormal bone development that produces disproportionate shortness in affected individuals. Protheragen stands out as a leading research services provider in this field through its dedication to expanding understanding while working alongside scientists to discover new insights and create innovative treatments for those with this condition.

Genetic Characteristics of Achondroplasia

Mutations in the FGFR3 gene which regulates bone growth and maintenance cause Achondroplasia. One specific gene mutation disrupts normal cellular signaling at the bone growth plate which blocks the standard transformation of cartilage into bone tissue, especially in long bones. The genetic disorder manifests through autosomal dominance because a single mutated gene copy suffices to produce the condition. Although the majority of achondroplasia cases arise from new mutations, people can also inherit the condition from a parent who has it.

Advancements in Diagnosis and Treatment

Diagnostics Progress

Clinical Diagnosis: The diagnosis depends on detecting specific physical traits including short extremities disproportionate to body size, enlarged head circumference, and genetic background.
Genetic Testing: Advancements in FGFR3 mutation testing have become pivotal by improving the accuracy of diagnostic methods.
Imaging: X-rays provide postnatal confirmation of diagnosis by showing characteristic bone shapes after prenatal detection of skeletal abnormalities with ultrasound.

Treatment Advances

Growth Hormone Therapy: This therapy supports height development but produces different outcomes for each person.
Surgical Solutions: Limb lengthening along with spinal corrections enhance both functional abilities and physical appearance.
Emerging Medications: Investigations into ghrelin agonists focus on promoting bone development through metabolic regulation.

Fig. 1 Computed tomography (CT) imaging of a child with achondroplasia following a whiplash injury. (Nedomová B, et al., 2025)

Our Services

Diagnostic Method Development Services for Achondroplasia

Our comprehensive genetic testing services enable early achondroplasia detection. The laboratory utilizes PCR amplification alongside Sanger sequencing and next-generation sequencing (NGS) as well as multiplex ligation-dependent probe amplification (MLPA) for genetic testing.

Therapy Development Services for Achondroplasia

Gene replacement strategies
Targeted gene editing approaches
Adeno-associated virus (AAV) vector applications
Cellular replacement therapy innovations

Model Development Services for Achondroplasia

In Vitro Models

Utilizing human induced pluripotent stem cells (iPSCs) to simulate achondroplasia-related bone development anomalies.

In Vivo Models:

Mouse Models: The development of FGFR3 G380R mutation knock-in models enables researchers to study human achondroplasia pathology and investigate bone growth disorders as well as treatment strategies.
Zebrafish Models: Gene editing technology targets hoxa1a to study craniofacial skeletal development.
Other Animal Models: Achondroplasia genetic pathways research utilizes Drosophila and C. elegans as model organisms.
Imaging and Biomechanical Models: Advanced MRI combined with 3D reconstruction technology serves to study skeletal anomalies and measure treatment effects for achondroplasia patients.

Protheragen dedicates its efforts toward driving advances in achondroplasia research and development. Contact us now to learn how our services can strengthen your research projects and drive progress in achondroplasia research.

Reference

Nedomová B, et al. Multidisciplinary Management of Acute Tetraparesis in an Infant with Achondroplasia, with a Focus on Anesthetic Strategies: A Case Report. Children (Basel). 2025 Jan 29;12(2):164.

All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.

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