|
Features
Rachael, a civil servant and part-time student, tells how a genetic condition called primary ciliary dyskinesia affects her life. 10/12/09
|
|
News
Research reveals a potential target for the treatment of fragile X syndrome. 03/08/07
|
|
|
|
News
A new drug bypasses mutations found in diseases such as muscular dystrophy and cystic fibrosis. 17/08/07
|
|
Background
Duchenne and Becker muscular dystrophy are two inherited muscle-wasting diseases caused by mutations in the same gene on the X-chromosome. 09/03/05
|
|
|
|
Background
A progressive neurodegenerative disorder that usually strikes in middle to late adult life. 27/01/05
|
|
Background
Disorders of blood clotting caused by mutations in one of two closely linked genes on the X chromosome. 14/12/04
|
|
|
|
Background
The commonest form of inherited mental retardation. 22/09/04
|
|
Background
An inherited disorder of bone development that results in short-limb dwarfism. 02/08/04
|
|
|
|
News
Study finds lower than expected uptake of screening among relatives of patients and carriers. 18/12/03
|
|
Background
An inherited disorder in which the body accumulates too much iron. 05/11/03
|
|
|
|
Background
A common inherited disorder that leads to breathing difficulties, chronic respiratory infections and problems with digestion. 30/07/03
|
|
Background
Dominant diseases are single gene disorders that occur when there is only one defective copy of the relevant gene. 16/04/03
|
|
|
|
Background
Single gene disorders caused by defective genes on the X chromosome. 16/04/03
|
|
