Singapore: BGI Europe, one of BGI's affiliates, and GENNET, a center for genetics, fetal medicine and assisted reproduction, signed a memorandum of understanding (MOU) on genetic screening for Mendelian disorders. This partnership aims to encourage collaborative initiatives in the area of monogenic disease.

Under the MoU, BGI Europe and GENNET will use whole exome sequencing technology to identify gene mutation related to known Mendelian disorders. The technology will be employed in in vitro fertilisation (IVF) and Preimplantation genetic diagnosis (PGD) to help them prevent the threat of Mendelian disorders, such as haemophilia, cystic fibrosis, sickle-cell anaemia, colour blindness, phenylketonuria, Thalesemia etc. GENNET was established in 2005.

Mendelian disorders usually refer to a disease caused by single-gene mutation. It is estimated that there are about 5,000 known mendelian genetic disorders in human. Next-gen sequencing (NGS) technologies have revolutionized life sciences, allowing researchers to efficiently identify the genetic variants underlying Mendelian disorder through whole-exome or whole-genome sequencing. Using genetic testing, parents can accurately determine if they are carriers for any of these disorders and can calculate the chances of having a child with the disorder.

"With the cost of DNA sequencing steadily plummeting in price, people will be able to understand their own genetic information in the near future. Until now, BGI has made many research achievements in the clinical application of genetic testing technologies, such as the genetic testing of Chromosome diseases, Monogenic disorder, Hereditary hearing loss, among others. We are very delighted to further the collaboration with GENNET on the basis of the well-established partnership of non invasive fetal trisomy test (NIFTY). We hope our joint effort will yield more achievements to benefit human health," said Dr Ning Li, director of BGI Europe.

Dr Matej Stejskal from GENNET said, "We are enjoying very much working together with BGI and have the possibility to use their expertise for our patients. After very successful implementation of NIFTY project, we think this is just a next logical step in our fruitful cooperation. With such a strong scientific partner, we are able to offer to our patients more in 2013."