Finding cures for children's genetic diseases


Strategic partnership with European business Genomic Vision

A European company that specializes in diagnostics for the early detection of cancer and other diseases, has today announced a strategic scientific partnership with Children’s Medical Research Institute (CMRI).

Genomic Vision, who are based in France, announced the partnership on Thursday, 16th May.
The purpose of the partnership is to understand the effects of telomere length on cardiovascular diseases and cancers.

Telomeres are regions of repetitive nucleotide sequences at each end of the chromosome, which protect the ends of the chromosome from deterioration or from fusion with neighboring chromosomes. Human telomeres are linked with both cancer and ageing and potentially other health conditions.
Thanks to the excellence and expertise in telomere biology of CMRI, Genomic Vision’s platform will be used to measure telomere length in both children and adults to develop a novel assay. With access to CMRI’s extensive and broad-ranging clinical cohorts, this scientific collaboration aims to enable clinical diagnostic telomere length testing to identify disease risk and to direct treatment regiments for some of the most common human diseases.
Genomic Vision’s Executive Vice-President of Corporate Development, Stephane Altaba said the collaboration would be very unique.
Our new DNA combing technology will be the only one that enables the characterization and the distribution of any of the 92 telomeres in each cell,’’ Mr Altaba said.

“With this huge competitive advantage, we believe that our test will become the reference assay in Telomere Length Measurement. We are looking forward to sharing our DNA combing technology with the researchers at CMRI and creating a new diagnostic test that will contribute to the improvement of patients suffering from telomere-related diseases and other conditions.”

CMRI’s Head of Telomere Length Regulation Unit, Associate Professor Hilda Pickett, said telomere length was indicative of cellular health.

“Mutations in telomere-related genes underlie telomere biology disorders or short telomere syndromes, and are associated with pathologies such as dyskeratosis congenita, pulmonary fibrosis, liver fibrosis, and aplastic anemia,’’ Prof Pickett said.

“Short telomere lengths are also associated with an increased risk of diseases such as cancer and cardiovascular disease. With this partnership, we at CMRI are excited to use the Genomic Vision platform to establish a new test to measure telomere length. We are already looking forward to the next step of validating the new assay as a diagnostic tool for a range of diseases.”