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Clean correction of a patient's genetic mutation
Date:10/12/2011

doption of the technology.

In the final step of the project, they took cells directly from a patient with alpha1-antitrypsin deficiency and corrected the mutation exactly as they had with the established cell line. The corrected cells produced normal alpha1-antitrypsin protein.

"As there is currently no cure for this disease other than liver transplantation, and given the increasing strains being placed on the national liver transplant programme as a result of the sharp increase in the frequency of liver disease, alternative therapies for genetic and other liver diseases are urgently being sought," says Professor David Lomas, Professor of Respiratory Biology at the University of Cambridge and Consultant Physician at Addenbrooke's and Papworth Hospitals (who has worked on the mechanism of alpha1-antitrypsin deficiency for 20 years and looks after patients with this condition). "Our research is a critical step to developing enhancing or life-saving treatments these individuals.

"It is a quite remarkable series of results, founded on strong research and the generous participation of our patients. One of the next steps will be exploring the use of this technique in human trials."
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Contact: Don Powell
press.office@sanger.ac.uk
44-012-234-96928
Wellcome Trust Sanger Institute
Source:Eurekalert

Page: 1 2 3

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