WHAT IS THE ROYA KABUKI PROGRAM?

 

Dr. Olaf Bodamer established the Roya Kabuki Program at Boston

Children's Hospital in 2017. The program was created with the dual

intention of meeting patient needs in the clinic as well as advancing

research of Kabuki syndrome (KS).

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WHAT IS THE ROYA KABUKI CLINIC?

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The Roya Kabuki Clinic was created to prevent families from having to

connect the dots regarding medical care for their child with Kabuki syndrome. At Boston Children's Hospital we have identified a 'Kabuki Champion' in each of the specialties typically seen by KS patients. By implementing this interdisciplinary clinical care approach for KS, patients are able to see a collaborative team of physicians who have experience in treating KS.

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WHAT IS THE GOAL OF THE RESEARCH?

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Our research is aimed at improving knowledge about the natural history of Kabuki syndrome, mechanisms that lead to the symptoms and to use that knowledge to develop specific therapies and improve outcomes. The ultimate goal is to develop a cure for this condition. This research is approved by the Institutional Review Board of Boston Children's Hospital.

 

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HOW CAN PATIENTS / FAMILIES PARTICIPATE?

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The first step is to contact the study coordinator (details below) to receive more information regarding clinical care, research participation, or both.  

 

Research participation can be completed remotely or at BCH. You will receive an information package, including research questionnaires, consent forms, blood and urine sample kits and mailing materials. There are no out-of-pocket costs for research participants. Research participation is voluntary and consent can be withdrawn at any time.

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For additional information, please contact the Program Coordinator and visit the links below.

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Program Coordinator:

Boston Children's Hospital

Division of Genetics and Genomics

Email: kabuki@childrens.harvard.edu

Tel: 857-218-5254

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Program Director:

Olaf Bodamer MD PhD

Boston Children's Hospital

Division of Genetics and Genomics