BlueGnome announced today that it has completed the acquisition of the intellectual property for Karyomapping – a powerful new approach for pre-implantation genetic diagnosis (PGD).

PGD is used, in combination with IVF approaches, where there is a risk of severe genetic disorders being inherited from parents. PGD screening is used to identify embryos that do not carry defective genes and to identify those that can be safely implanted.

There are estimated to be over 4000 diseases caused by single gene defects. The most frequently diagnosed autosomal recessive disorders are cystic fibrosis, beta-thalassaemia and sickle cell disease. Current methods rely on PCR (polymerase chain reaction), however, the complexity of the test means that it is expensive, time consuming and only available at a small number of very specialist laboratories.

Karyomapping, developed by Professor Alan Handyside while at the Bridge Fertility Centre, addresses this by identifying the parental and grandparental origin of chromosome segments which may contain the defective gene. Because karyomapping is a genome wide method, there is no need to develop specific PCR assays for each gene defect which should make PGD more widely available and applicable to a broader range of disorders.

In 1989 Prof. Handyside with Prof. Lord Robert Winston led the team at Hammersmith Hospital that culminated in the birth of the first child following PGD. Prof. Handyside will join BlueGnome’s Cambridge development team as Head of PGD. Speaking on his appointment Prof. Handyside said “I am delighted that both I and my Karyomapping technology are moving to BlueGnome. Their 24sure platform has already established itself as the standard for screening the very large scale chromosomal imbalances that are thought to be a major cause of infertility. We now have an opportunity to extend this approach to the inheritance of some truly debilitating genetic disorders”. Prof. Handyside will also continue in his post at the Bridge Fertility Centre.

Commenting on the appointment, Nick Haan, CEO of BlueGnome, said “Alan’s appointment cements BlueGnome’s position as the leaders in the application of the very latest molecular techniques in the exploding field of human reproduction. Working closely with Alan and other leaders in the field we expect to make a major contribution to the treatment of infertility and inherited disease.”