CACP Research Foundation

Overview

The CACP Research Foundation is a nonprofit organization focused on investigating camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome, a rare genetic disorder affecting the joints. The foundation works to explore the disease's characteristics, progression, and potential treatments.

Mission

The mission of the CACP Research Foundation is to advance understanding and management of CACP syndrome by supporting research into its causes, diagnosis, and treatment options. This involves studies on the genetic and molecular aspects of the disease, aiming to improve the lives of those affected.

Research Focus

• CACP Syndrome: The primary focus is on camptodactyly-arthropathy-coxa vara-pericarditis syndrome, a rare condition characterized by joint abnormalities and systemic complications.
• Genotype-Phenotype Studies: Investigating how genetic mutations lead to different symptoms and disease progression in patients.
• Treatment Development: Exploring potential treatments for CACP syndrome, including therapeutic interventions for joint and systemic manifestations.

Publications and Findings

The foundation has contributed to several publications documenting the clinical and genetic characteristics of CACP syndrome. These studies highlight the importance of proper diagnosis to avoid misdiagnosis, particularly with conditions like juvenile idiopathic arthritis. Additionally, research has identified the PRG4 gene, encoding the protein lubricin, as crucial in the pathogenesis of CACP syndrome.

Impact

The work of the CACP Research Foundation contributes to the broader understanding of rare genetic disorders and their management. By promoting research and awareness, it helps improve patient care and supports the development of targeted therapeutic strategies.