Examples of Genetic Diseases |
Muscular Dystrophy
There are more than 20 types of muscular dystrophy, almost all of which are caused by
faults in genes which parents pass on their children. Muscular dystrophy results in
progressive muscle weakness as muscle cells break down and are gradually lost. Some 20,000 - 30,000
people in the UK have symptoms of muscular dystrophy or similar conditions.
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The boy in the picture suffers from Duchenne muscular dystrophy which only affects boys.
It is known to result from a defect in a single protein in muscle fibres called dystrophin.
About 100 boys a year are born with Duchenne muscular dystrophy in the UK. There are about 1500 sufferers
living in the UK at any one time.
Most sufferers die in their mid 20s and though much can be done to help limit the
effects of the disease unfortunately no cure has yet been discovered.
The genetic abnormality found in sufferers is also found in some mice and research using
these mice is providing clues to the condition and potential treatments.
Cystic fibrosis
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Cystic fibrosis (CF) is an incurable inherited (genetic) disorder that mainly affects the
lungs and digestive system. At the moment heart-lung transplants offer the only hope of long
term survival. CF occurs when a child inherits two copies of the defective CF gene, one from each parent.
Defective CF genes are relatively common but as most people with a defective gene will only have one copy
they will not suffer from CF but will be carriers of the disease.
About 1 in 2000 children in the UK are affected by CF and at any one time there approximately 7000
sufferers. Improving and comprehensive treatment programmes have improved the quality of life and the
life expectancy of people with CF and many people with CF are now living into their 20s and even into
their 30s.
CF is particularly devastating in the lungs where production of thick mucus causes increasingly severe
respiratory problems. CF also affects digestive functions making it extremely difficult for sufferers
to digest adequate nutrients.
Most CF sufferers eventually die from lung disease and at the moment the only hope of long term survival is a heart-lung transplant.
In recent years research teams in the US and the UK have bred mice with defects in their CFTR gene,
so called mouse models. These mice have been used to show that it is possible to introduce a
'good' copy of the CFTR gene to the lungs and restore normal lung function.
Trials in cystic fibrosis patients are continuing while research with cystic fibrosis mice continues
to find effective and safe ways to deliver 'good' CTFR genes to the lungs.
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