“Researchers in Australia have developed a new blood test that can rapidly diagnose genetic disorders in children. Using as little as 1 milliliter of blood, the test can identify abnormalities associated with up to 50 percent of known rare genetic diseases,” reports The Doomslayer.
The University of Melbourne explains:
Researchers from the University of Melbourne and Murdoch Children’s Research Institute (MCRI) have developed a blood test capable of rapidly diagnosing rare genetic diseases in babies and children, eliminating the need for costly and invasive procedures and giving families earlier access to treatment.
Genome sequencing has advanced the diagnosis of rare diseases, however this test is only successful for half of all cases. The remaining half of patients must undergo additional functional tests to confirm if a gene mutation is causing the disease. This diagnostic process can take months or years with no guarantee of a result, as most functional tests are only applicable to a single or handful of rare diseases.
Now new research, published in the journal Genome Medicine, reveals a new blood test can rapidly detect abnormalities in up to 50 percent of all known rare genetic diseases in a matter of days by analysing the pathogenicity of thousands of gene mutations at once, potentially replacing thousands of other functional tests.
Dr. Daniella Hock says that a “recent health economics analysis” shows that the new “test could be offered at a similar cost to the enzyme test that is currently offered clinically for mitochondrial diseases,” even though the new “test is much more cost-effective as it can test for thousands of different genetic diseases, whereas other functional tests are mostly targeted to a small number of genetic disorders.”
Researchers are currently recruiting 300 patients with a variety of different genetic disorders to participate in a study to investigate the full efficacy of their diagnostic test.
Scientists expect that the blood test will eventually be provided as a diagnostic service at Victorian Clinical Genetic Services.
“Surgeons and scientists have developed a world-first blood test for brain cancer that experts say could revolutionize diagnosis, speed up treatment and boost survival rates,” according to a report last year in The Guardian. Despite advances in fighting other kinds of cancer, “brain tumors have remained notoriously difficult to diagnose. They affect hundreds of thousands of people worldwide each year, and kill more children and adults under the age of 40 … than any other cancer.”
Robots may also help remove brain cancers. Robots can fit in small spaces in people’s bodies that a surgeon can’t reach without cutting through living tissue.
Scientists have developed tiny robots made of human cells to repair damaged cells. Nanorobots are also being used to fight cancer: “In a major advancement in nanomedicine, Arizona State University scientists…have successfully programmed nanorobots to shrink tumors by cutting off their blood supply.”
A recently-developed brain implant lets people control Alexa with their mind. Skull implants could fight depression.
Brain implants are also being used to restore cognitive abilities wiped out by traumatic brain injuries, enabling people to work again, and once again do things they couldn’t do because of their brain injury, such as reading, avoiding getting speeding tickets, and grocery shop.
