Blood test developed that could speed up diagnosis of rare diseases in babies | Medical research
A new blood-based test has been developed that can help accelerate the diagnosis of children born with rare genetic disorders by researchers in an attempt to provide answers-perpetuations-urgent.
Rare genetic disorders include a group of cases, from cystic fibrosis to mitochondria -cells – cells. However, obtaining the diagnosis can be difficult.
“In most cases, people suspected of a rare disease are undergoing genetic tests, which revolutionized their diagnosis, but usually leads to a diagnosis of about 50 % of time,” said Dr. David Strood, the co -author of the University of Melbourne.
He added: “Those who do not receive a diagnosis of genetic tests often undergo a long -to -year” Odyssey “Odyssey from months to years as they are countless other tests in an attempt to explain any of the many genetic changes that have been discovered in genetic tests that cause disease.” “Some of these tests are very invasive, for example muscle biopsies, which require general aesthetic children, have their own risks.”
Writing in the Jinnom Medicine JournalStrud and his colleagues are about how they sought to complete the genetic tests with another approach: examining the countless proteins found in certain types of blood cells taken from a patient, and comparing them with those in healthy people.
“Since genes are the instructions that make proteins, we then use this information to understand any of the thousands of changes in many different genes that have been discovered in the patient leading to damaged protein and which is benign,” Strud said.
The team says that the approach means that the effects of many different genetic mutations can be analyzed simultaneously and lead to at least three days.
Among the other results, the researchers found that the new approach excels in standard gold -gold tests for mitochondria diseases that are used along with genetic tests, and enabling the diagnosis of diseases that the genetic test alone was unable to do so.
“Genome is an front lines test and can solve the diagnosis in about 30-50 % of patients suspected of a rare disease. We believe that one protein test can increase this diagnostic return to 50-70 % of suspected patients,” said Professor David Thorporne, another author of Melbourne University.
While the study focuses on using a mitochondria diseases test, Strud said it already applies to about half of the 7,000 rare diseases, although more work is needed to prove this.
Strud added that for mitochondria diseases, at least 1 ml of blood from the new baby is required for the procedure, while the current techniques involve the muscle biopsy.
Moreover, while the version that focuses on the mitochondria of the test has a similar cost to current technologies, it is not specific to one type of rare disease. This not only makes it more effective, but also noticed, also means that patients can avoid having to perform other unnecessary tests.
“This has clear benefits for both the patient’s system and health care,” he said.
Diagnosis not only sheds light on the disease, and in some cases – potential treatments. It also helps parents who think about having more children by increasing the possibility of taking genetic tests before birth.
Michal MinCzuk, professor of mitochondria genetics, in
The University of Cambridge, who did not participate in the study, welcomed the research.
“In general, the paper represents a very important step forward in diagnostic practices by introducing a strong, fast and gas method to confirm and characterize genetic disorders.” “This can significantly boost patient care by expanding the tools available to doctors and genetic medicine researchers.”
