Multidisciplinary clinical and translational approach for optimizing management for complex and rare conditions using Kabuki syndrome as example

Abstract

Rare diseases are a group of complex conditions with challenging diagnosis and management. One example is Kabuki Syndrome (KS), a rare and complex genetic condition necessitating multidisciplinary specialized care. The wealth of data supporting a multidisciplinary clinic approach as the gold standard for management of many complex conditions led us to explore the efficacy of this approach in KS. In this paper we present the Roya Kabuki Program’s multidisciplinary care clinic as a model for delivering optimized and individualized clinical care, a modality for integration of translational research and a platform for connecting and supporting the Kabuki Syndrome community. This model may serve as a blueprint for management of complex rare conditions.

Keywords

• Multidisciplinary clinic
• Rare disease
• Kabuki syndrome
• Coordinated care
• Translational research