New Delhi, 26 May (IANS). Scientists in Australia have developed a new and fast examination method to identify rare diseases found in children and newborns.
There are about 7,000 rare diseases worldwide, caused by more than 5,000 gene changes. About 30 crore people are affected by these diseases.
At the moment, about half of the patients who are expected to have a rare disease are not detected properly of the disease, and the tests that take place are quite slow.
Researchers at Melbourne University have created a new examination technique with the help of blood, in which thousands of proteins can be analyzed simultaneously.
Dr. Daniella Hawk, a senior postdorctor student, while presenting research at the annual conference of the European Society of Human Genetics in Germany, said that most of the genes make proteins through DNA, and these proteins work in our body cells.
Hawk said, “Our new test can identify more than 8,000 proteins in peripheral blood mononuclear cells (PBMCS). It covers more than 50 percent of known genetic and mitochondrial diseases and can also identify the genes of new diseases.”
This technique is special because it analyzes protein, not genes. This helps to understand how the change in a gene affects the protein work and how the disease is caused. If a change in a gene can be proved the cause of the disease, then this technique can be useful for thousands of diseases, and new diseases can also be detected.
The best thing is that this investigation occurs in very little blood (just 1 ml) and children getting treatment in critical condition can get reports within three days.
According to Hawk, if this examination is done on the blood samples of the parents and the children, it is called “Trio Analysis”. This new investigation not only saves time, but also gives correct results from the same investigation instead of many expensive and different investigations, which also reduces the expenses of both the patient and the hospital.
-IANS
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