What is it?
Purpose and Rationale
Usher syndrome is a major cause of deafblindness in the UK and is caused by a set of recessively inherited genes. Every year between 3% and 6% of people born deaf and partially hearing may also develop this progressive loss of vision.
Currently, up to 11 different genes are known to cause Usher syndrome. There are at least three forms of the condition, which differ in severity and time course, called type 1, type 2 and type 3. Seven different genes can cause Usher type 1; three different genes can cause Usher type 2; and one gene causes type 3.
A diagnosis of Usher raises many questions for the affected child and young person.
- What type of Usher syndrome is it?
- How long will my vision last?
- Are there other related problems e.g. poor balance?
- Will my hearing deteriorate further?
- When I have children will they be affected?
- Are my hearing brothers and sisters carriers?
Yet this information can be difficult to obtain, because the answers to these questions may be related to the genetic subtype if Usher, which cannot be tested at present in the UK.
The aim of this research project is to provide better information about the variability in vision, hearing and balance in Usher syndrome and whether this is accounted for by the different genetic subtypes. The research will last three years and Sense will publicise the results afterwards.
For more information on the three forms of Usher Syndrome, follow this link.
Objectives
The research will be based on the detailed study of 200 individuals with Usher syndrome in the UK. The group will be asked to allow the collection of aspects of clinical information including:
- Information to determine their genetic Usher Syndrome subtype (i.e. a blood sample)
- Detailed information on hearing, balance and vision (the individuals will be asked to come to London for two afternoons of testing)
It is possible that, at a later stage, there will be a call for more people to give a blood sample, without having any other tests.
This information will then be put together to:
- see whether genetic subtypes cause different clinic problems,
- allow modification of the genetic analysis based on the research findings,
- and modification of clinical testing (hearing, balance and vision) and follow-up of deaf and hearing impaired individuals in order to diagnose Usher syndrome early. By the end of this study we hope to have established protocols for the evaluation of newly diagnosed individuals with Usher and to set up a blueprint for an expert multidisciplinary team approach to the clinical evaluation of hearing impaired children that would lead to an early diagnosis of Usher Syndrome.
Partnership
This work is a unique collaboration between Sense and two clinical and academic centres:
- Institute of Child Health (and Great Ormond Street Hospital)
- Institute of Ophthalmology and Moorfields Eye Hospital
The researchers involved will be Dr Maria Bitner-Glindzicz, Prof Linda Luxon, Dr Mazal Cohen, Dr Dorothy Thompson and Miss Isabelle Russell-Eggitt from ICH/GOSH, Prof Alan Bird, Dr Andrew Webster and Prof Tony Moore from Moorfields Eye Hospital.
How will it work?
The Community Fund (National Lottery) and BRPS have given funds to employ a family co-ordinator at Sense, an opthalmologist, a scientist and an audiologist. The family co-ordinator will be the person who explains the study to the family, either by a home visit or at a meeting organised by Sense, or through correspondence with families.
Families will be given an information sheet which explains the study in some detail. Parents and siblings of the Usher person will also be given an information sheet and asked to sign a consent form to confirm that they have read the information and wish to participate in the study. Parents and siblings are asked only to give a blood sample.
Recruitment for the study
You can read the information sheets here.
If you have read the information sheet and think that you would like to participate in the study, or if you want more information, please e-mail the family co-ordinator.
Disclaimer - Information about the research on these pages
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