Research updates
3 - Cystic fibrosis: the quest for a cure page 1
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1. Introduction Link to the Medical Research Council web site
 
 
Cystic fibrosis is one of the most common genetic disorders, and arises from a defect in a single gene. Gene therapy, in which the defective gene is replaced by a healthy one, offers promise of a cure. Clinicians and scientists are working to develop safe techniques which they hope will make this possible.

 

Figure 1
Figure 1. Following a first degree in Genetics at Newcastle, Dr Julia Dorin completed her doctorate and has for several years been a Research Fellow in the MRC Human Genetics Unit in Edinburgh. In collaboration with Dr David Porteous and other members of his research group, Dr Dorin uses mice genetically engineered to have cystic fibrosis. This is enabling her to develop improved protocols for the treatment of CF in humans by gene therapy. Dr Dorin successfully combines a full time research post with raising a young family. 'A demanding combination,' she remarks, 'but one which is certainly rewarding and made possible by my supportive colleagues.'
Background
Until recently, most children inheriting cystic fibrosis (CF) died in infancy. There is presently no cure for the disease - a gloomy picture. However, researchers such as MRC-supported clinical scientist Duncan Geddes of the Royal Brompton Hospital, London, are turning the dream of gene therapy into reality and may soon be able to offer brighter prospects for people with CF. In order to understand this potential cure for the disease, we must first look at the symptoms and causes of cystic fibrosis.
 
 
 
Question 1

Cystic fibrosis (CF) is the most common inherited disease in children of white European descent. It is caused by a recessive mutation in a single gene.

The CF allele is inherited in a typical Mendelian fashion. Carriers of the disease show no symptoms. Using appropriate symbols for the dominant and recessive forms of the CF gene, give the genotypes for:

a) a person with CF;

b) a CF carrier;

c) a normal individual.

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