Update on CVID Research


 

Update On CVID Research  - ADHB communication

Members will be interested to read the latest information on the CVID research IDFNZ helped Associate Professor Rohan Ameratunga and his team initiate a few years ago. Marvellous progress – well done!

“An international collaboration between Prof Bodo Grimbacher in Germany, Dr Vanessa Bryant and Professor Jo Douglass’s group in Australia and a team in New Zealand has identified a new gene, NFkB1, which causes a rare immune defect. Common Variable Immunodeficiency Disorder (CVID) affects 1:25,000 or around 160 individuals in New Zealand. The NFkB1 mutation appears to be found in a small number of CVID patients. The group in New Zealand is led by Auckland DHB immunologists Associate Professor Rohan Ameratunga and Dr See-Tarn Woon. They have identified the gene independently in a New Zealand family. The results were then combined with two other European/ Australian families published in the American Journal of Human Genetics.

For the individual New Zealand family concerned, this has very significant implications. For those affected family members it presents the possibility of earlier diagnosis and so treatment options can be deployed earlier, before primary immunodeficiency disorders advance to the stage of causing significant organ damage. It also means that they have the opportunity to undertake pre-implantation genetic diagnosis so avoid the gene presenting in future generations of their direct descendants.

This research used Whole Exome Sequencing, where all genes in the body are analysed to identify new gene mutations which cause disease. The team in Auckland consists of clinicians and scientists from Auckland City Hospital’s LabPlus division and Associate Professor Klaus Lehnert from the University of Auckland’s School of Biological Sciences.

Associate Professor Ameratunga said it is hoped the experience gained with this research technique will soon be available to other patients suffering from primary immunodeficiencies in New Zealand. He also said the New Zealand research team wanted to express it gratitude to the family for participating in this cutting edge research. Auckland DHB Chief Executive Ailsa Clare said she spoke on behalf of the DHB in congratulating Associate Professor Ameratunga and Dr See-Tarn Woon and joined with them in thanking the Auckland Medical Research Foundation and the A+ Trust for their grant support.”

On the web:

AMRF http://www.medicalresearch.org.nz/

A+ Trust http://www.aplustrust.org.nz/

Auckland Academic Health Alliance http://www.aaha.org.nz/

University of Auckland Faculty of Medical and Health Science http://tinyurl.com/orv6o6r