Searching for new genes that cause congenital muscular dystrophies and congenital myopathies.
Many individuals with congenital muscular dystrophy and congenital myopathy do not have a genetic diagnosis. A precise diagnosis allows patients to be given more accurate information about their condition, helps them to make choices when it comes to family planning and will contribute to the development of treatments in the future. In this project Professor Muntoni and his PhD student at University College London will search for new genes causing these conditions.
Contents:
- What are the researchers aiming to do?
- How will the outcomes of the research benefit patients?
- Grant information
- Further information and links
What are the researchers aiming to do?
The congenital muscular dystrophies and myopathies are a diverse group of conditions whose common link is that symptoms are present from birth or very early in life. Numerous gene mutations have already been found to cause these conditions, however, there are still many people for whom a precise genetic diagnosis cannot be given.
This project aims to using cutting edge technology, called next generation sequencing that reads the DNA code to search for new causative genes. Professor Muntoni and his student will examine DNA from the blood of 100 people who have a clinical diagnosis of either congenital myopathy or a congenital muscular dystrophy but do not have a mutation in one of the genes known to cause these conditions.
All of the more than 20,000 genes in the body will be decoded and examined for changes that do not occur in people without congenital muscular dystrophy or myopathy. There are literally millions of DNA sequence changes from person to person, so the challenge will be to identify those changes that cause disease. Sophisticated computer analysis will be used to narrow down the changes to those that are most likely to be the cause. The next part of the project will then be to test, in cells grown in the laboratory and in animal models, whether these differences are the cause of these conditions.
How will the outcomes of the research benefit patients?
Being able to give a precise genetic diagnosis has immediate benefit for families. It enables them to have genetic counselling and a more accurate prediction of how the condition will progress allows them to plan for the future. Knowing the genetic cause will also allow the identification of therapeutic targets.
Grant information
Project leader: Prof Francesco Muntoni
Location: University College London
Conditions: Congenital muscular dystrophy, congenital myopathy
Duration: 4 years
Total project cost: £118,500
Official title: Identifying new genes responsible for congenital muscular dystrophies and congenital myopathies
Further information and links
Find out more about congenital muscular dystrophy and myopathy.
Read about another congenital myopathy project we are funding.
Learn more about next generation sequencing in the December 2010 edition of Target Research
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