Multidisciplinary clinical and translational approach for optimizing management for complex and rare conditions using Kabuki syndrome as example
Leen Khalife,
Rachel Gottlieb,
Tara Daly,
Xiaoting Ma,
Asma Rashid,
Bridget Funk,
Emanuela Gussoni,
Christina Hung,
Olaf Bodamer
Affiliations
Leen Khalife
Division of Genetics and Genomics, Boston Children’s Hospital, 300 Longwood Ave, Boston, MA 02115, USA; Corresponding author.
Rachel Gottlieb
Division of Genetics and Genomics, Boston Children’s Hospital, 300 Longwood Ave, Boston, MA 02115, USA
Tara Daly
Merrimack College, 315 Turnpike St, North Andover, MA 01845, USA
Xiaoting Ma
Division of Genetics and Genomics, Boston Children’s Hospital, 300 Longwood Ave, Boston, MA 02115, USA
Asma Rashid
Division of Genetics and Genomics, Boston Children’s Hospital, 300 Longwood Ave, Boston, MA 02115, USA
Bridget Funk
Division of Genetics and Genomics, Boston Children’s Hospital, 300 Longwood Ave, Boston, MA 02115, USA
Emanuela Gussoni
Division of Genetics and Genomics, Boston Children’s Hospital, 300 Longwood Ave, Boston, MA 02115, USA; Harvard Medical School, 229 Longwood Ave, Boston, MA 02115, USA
Christina Hung
Division of Genetics and Genomics, Boston Children’s Hospital, 300 Longwood Ave, Boston, MA 02115, USA; Harvard Medical School, 229 Longwood Ave, Boston, MA 02115, USA
Olaf Bodamer
Division of Genetics and Genomics, Boston Children’s Hospital, 300 Longwood Ave, Boston, MA 02115, USA; Harvard Medical School, 229 Longwood Ave, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Merkin Building, 415 Main St, Cambridge, MA 02142, USA
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.
