If rare genetic diseases are rare, there are indeed more than 7,000 types of diseases caused by mutations in more than 5,000 known genes, which makes the diagnosis of each case difficult. However, in total,
These diseases affect around 300 million people worldwide.
The existing screening methods for these conditions are generally slow, targeted on a specific and not always sensitive disease. This may mean that their diagnosis can take years, or even decades of undecresting investigations and invasive tests. This slowness of the diagnosis and the numerous examinations constitute a source of distress for patients and their families.
This team of biologists from the University of Melbourne presents
A blood analysis method of thousands of proteins via a single and not targeted test.
This proteomic test is unique Because it sequences proteins rather than the genes themselves. The data collected makes it possible to understand how changes in the genetic sequence affect the function of the corresponding protein and lead to the disease. This test is applicable to thousands of different diseases and can even detect new ones by providing the necessary evidence identifying genetic modification, cause of the disease.
A quick and little invasive test because it only requires 1 ml of infant blood and the results are available in less than 3 days for intensive care patients. When the test is also carried out on parents’ blood samples,
We are talking about trio analysis.
In recessive hereditary diseases, this makes it possible to considerably differentiate the carriers, who have only one copy of the defective gene, of people affected, who carry two.
To faster access to suitable treatmentif it is available: for families, as for the patient, a diagnosis can mean access to medically assisted procreation options to prevent the occurrence of the disease.
And for health systems, replacing a battery of tests targeted by a single analysis should reduce health costs.
Researchers hope that their test will become a key element in the standard diagnosis of rare genetic diseases and other genetic diseases in the clinical laboratory. “The possibility of using so little blood from the infant and producing reliable results within quick time is a real revolution for families.”
