OUR PARTNERS
Who We Work With
At Kabuki UK, we are proud to work with esteemed partners that enable us to enhance our support for families, advance research efforts, and foster a global community united in raising awareness and improving the lives of those affected by Kabuki syndrome.
Manchester Rare Conditions Centre
The Manchester Rare Conditions Centre is a leading institution dedicated to improving the lives of individuals with rare diseases through coordinated clinical care, research, education, and community engagement.
A key figure at MRCC is Dr. Siddharth Banka, the UK’s only Kabuki syndrome specialist and clinician. Dr. Banka’s work focuses on advancing our understanding of Kabuki syndrome and exploring potential treatments, making him an invaluable resource for families navigating this rare condition. For a referral to see Dr. Banka, please contact your GP.
Manchester University NHS Foundation Trust
Manchester University NHS Foundation Trust (MFT) is one of the largest and most respected healthcare providers in the UK. As a leading centre for genomic medicine and paediatrics, MFT plays a vital role in the diagnosis, care, and research of rare genetic conditions—including Kabuki syndrome. MFT is home to Dr. Siddharth Banka, the UK’s only Kabuki syndrome specialist and a key partner of Kabuki UK.
The University of Manchester
The University of Manchester is a world-renowned institution recognised for its excellence in teaching, research, and innovation—especially in the field of genetic and rare diseases. As a centre of cutting-edge scientific discovery, the University plays a key role in advancing our understanding of conditions like Kabuki syndrome.
EpiGenRare
EpiGenRare is a UK-wide research initiative focused on understanding the role of epigenetics in rare diseases, including Kabuki syndrome. Led by the University of Exeter and supported by institutions such as the University of Manchester and Manchester University NHS Foundation Trust, EpiGenRare brings together researchers, clinicians, and patient organisations to explore how changes in gene regulation contribute to rare conditions.
Kabuki Syndrome Foundation
The Kabuki Syndrome Foundation is a global research leader dedicated to improving the lives of people with Kabuki syndrome by funding and accelerating research that will lead to treatments.
KSF offers a regularly updated collection of research publications that are highly sought after by families, covering topics including: behaviour, growth & muscles, immune system and diagnosis. They also provide information on currently recruiting research opportunities that are both in-clinic and home based.
Síndrome Kabuki España (Spain)
Síndrome Kabuki España is a Patient Advisory Group dedicated to supporting individuals and their families in Spain affected by Kabuki syndrome. They offer vital support, community, and information to those dealing with the disease. AEFA-Kabuki Syndrome also collaborates with the Kabuki Syndrome Foundation to advance the Global Kabuki syndrome census: Kabuki Count. We were delighted to welcome them to our 2024 Information Day.
Stichting Kabuki Syndroom (Netherlands)
The Dutch Kabuki Network is a patient advisory group dedicated to collaborating with Dutch researchers to enhance the quality of life for individuals living with Kabuki syndrome. They recently published significant research on the use of growth hormone to treat both short stature and hypotonia associated with Kabuki syndrome. We were delighted to have Professor Connie Stumpell, the author of the study, present virtually at our 2024 Information Day. You can watch her full presentation here.
Kabuki Syndrome Support Japan
Kabuki Syndrome Support Japan was established with the aim of creating a space where patients and their families can connect, share experiences and information, and support each other. Furthermore, Kabuki Syndrome Support Japan aim to expand understanding of and support for Kabuki syndrome by collaborating with related fields.
The Scandinavian Kabuki Association
Kabukiföreningen Skandinavien (The Scandinavian Kabuki Association) was founded in 2022 by four mothers of children with Kabuki syndrome to offer families community, support and belonging, including an annual family gathering. It also raises awareness of Kabuki syndrome among the public and professionals, and campaigns for more research funding to improve the lives of those living with the condition.
