The University of Melbourne and Murdoch Children's Institute in Australia have jointly developed a new blood testing technology that can quickly diagnose rare genetic diseases in infants and young children. The latest technology not only allows children to avoid expensive and invasive examinations, but also enables them to obtain treatment plans earlier. The relevant research results were published in the latest issue of the journal Genomics. Although genome sequencing technology has promoted the diagnosis of rare diseases, its diagnosis rate is only about 50%. The remaining cases require additional functional testing to confirm the association between gene mutations and disease, which often takes months or even years. Moreover, most functional tests only target a single or a few rare diseases, which has significant limitations. In response to this situation, the research team has innovatively developed a blood testing method. Experimental data shows that this technology can simultaneously analyze the pathogenicity of thousands of gene mutations within a few days, and can quickly detect abnormal indicators of about 50% of known rare genetic diseases, which is expected to replace thousands of existing functional testing schemes. In comparative experiments, the new detection technology demonstrated significant advantages in the diagnosis of mitochondrial diseases. These rare diseases can lead to cellular energy metabolism disorders, causing multiple organ failure and even death. The results show that compared with traditional enzyme detection methods, the new method has higher sensitivity, accuracy, and timeliness. Diseases with a prevalence rate below one in two thousand are considered rare diseases. Among the more than 7000 rare diseases known worldwide, the vast majority are hereditary and mostly severe and progressive. The latest technology can provide clinical diagnosis for 50% of patients who have not been diagnosed through genome sequencing, which is of great significance. This means that the child does not need to undergo invasive tests such as muscle biopsy. For infants and young children, such examinations that require general anesthesia always carry risks. In addition, through rapid diagnosis, patients can receive targeted treatment in a timely manner, significantly improving their chances of survival. Even if a child unfortunately passes away due to an undiagnosed genetic disease, this technology can still detect tissue samples and identify pathogenic gene mutations. This not only provides answers for family members, but also helps parents who have undergone IVF technology to give birth to children who do not inherit this disease. (New Society)