KABUKI SYNDROME:
RESEARCH OPPORTUNITIES
Contribute to Kabuki Syndrome Research
At Kabuki UK, we work closely with the research community to bring information and opportunities to our families. Our aim is to make it easier for you to learn about research studies happening right now and how you can get involved if you choose to.
Taking part in research is completely voluntary, but it can be a powerful way to help shape the future of Kabuki syndrome care and understanding. On this page, you’ll find up-to-date information on research opportunities that are currently looking for participants, along with details on what’s involved and how to take part.
DELineating the NEuropsychologicAl phenoTypEs of rare developmental genetic conditions (DELINEATE)
Researchers at the University of Manchester are running a study investigating the cognitive, behavioural, emotional, and social functioning of people who are affected by rare developmental genetic conditions.
They are looking for people living with rare developmental genetic conditions such as Kabuki syndrome to complete a neuropsychological assessment and review of their medical history. You will be asked to complete some simple assessments (puzzles and tasks).
If you are interested in taking part please contact: Aoife O’Sullivan (PhD Student under the supervision of Dr Rebecca Bromley and Professor Siddharth Banka at The University of Manchester).
An observational study of hypogonadotrophic hypogonadism in genetic neurodevelopmental conditions
Researchers at the University of Sheffield are conducting an observational study to better understand hypogonadotrophic hypogonadism, a condition in which the body produces lower than expected levels of sex hormones. This condition can occur in several genetic disorders, including Kabuki syndrome.
The aim of the study is to understand how common hypogonadotrophic hypogonadism is in individuals with certain genetic conditions and to explore why changes in specific genes may lead to hormonal differences. The research team hopes to include 10–15 children with changes in the KMT2D gene (Kabuki syndrome type 1) in this study.
Participation involves a single visit to either Sheffield Children’s Hospital NHS Foundation Trust OR Barts NHS Trust in London, which will last approximately 1–2 hours. During the visit:
A member of the research team will ask about your child’s medical history and overall health
A brief structured physical examination will be carried out to assess signs of puberty
A blood test will be taken to measure hormone levels
This study is led by Dr. Alisdair McNeill, PhD FRCP (Edin) DCH FHEA at the University of Sheffield. Reasonable travel expenses, accommodation, and food costs can be reimbursed for families travelling from across the United Kingdom and Europe. If interested in taking part, please contact Dr. Seda S. Zonuzi (Clinical Research Fellow).
BEOND: Behavioural and Emotional Outcomes in individuals with Neurodevelopmental Disorders
The Cerebra Network at the University of Birmingham is running an international survey study looking at behaviour, wellbeing, emotion, and physical and mental health in children and adults with rare genetic syndromes, including Kabuki syndrome. The survey will be repeated at intervals over the next 20 years, building a picture of how individuals develop over time.
Parents and carers are asked to complete a survey — online or by post — made up of 12 questionnaires, taking around 60 minutes in total. This can be completed in one sitting or across several. Afterwards, families can opt in to an additional short questionnaire or an interview with the research team. Every family who completes the survey receives an individualised feedback report summarising their responses, putting the information back into their hands. Over 300 families have taken part so far, and the survey is open until March 2027.
The study is led by the Cerebra Network, with Dr Rory O’Sullivan as the main point of contact. It has been approved by the Health Research Authority and Health and Care Research Wales (IRAS ID: 299757).
Turner syndrome with features of Kabuki syndrome
Researchers at the University of Iceland and Landspítali are running a study to better understand why some individuals with Turner syndrome also have clinical features associated with Kabuki syndrome.
They are looking to hear from individuals who have Turner syndrome — particularly involving a ring X chromosome or another structural X-chromosome difference — and who have been diagnosed with Kabuki syndrome or have features suggestive of it (such as immune deficiency, intellectual disability, or distinctive facial features), but have not had a disease-causing variant identified in the KMT2D or KDM6A genes.
If you are interested in taking part, please contact the research team, led by Hans Tómas Björnsson, MD, PhD, and genetic counsellor Arnhildur Tómasdóttir, CGC. They can provide further information and help determine whether the study is relevant to you.
An outpatient study of dental health in children with rare genetic conditions
We want to understand if children with rare genetic conditions associated with issues such as learning difficulties or autism also have issues with tooth development. We would also like to find out about oral and dental health in general in children with these rare genetic conditions.
You and your child will be asked to visit Sheffield Children’s Hospital NHS Foundation Trust, on a single occasion. This visit is likely to last 1 – 2 hours. Your child/relative will be assessed in a room specially designed for dental examination of children. A member of the research team will ask you, and your child, in detail about their health. A specific questionnaire on aspects of dental health will be administered.
This study is led by Dr. Alisdair McNeill PhD FRCP (Edin) DCH FHEA at The University of Sheffield. Reasonable travel expenses (one return trip for two parents/carers and your child/relative), accommodation for one night (parents/carers and your child/relative) and food can be reimbursed. A £50 gift voucher will be offered to recognise your time taking part in the study.
Kabuki Count
Do you have a clinical Kabuki syndrome diagnosis, or care for someone who does?
Register for Kabuki Count: a Global Census that will help us understand how many people around the world have Kabuki syndrome.
So far over 1200 families from 60+ countries have registered, including 166 from the United Kingdom!
