A domestic knowledge-based company has produced a device that detects metabolic diseases in newborns through a blood test at the time of birth.
Mobtakeran Agah Hadaf Company’s development of the device using new technologies helps stop certain diseases in the early stages, the news portal of Vice Presidency for Science and Technology reported.
Metabolic disorders are hereditary biochemical diseases in which the metabolic pathways of various substances in the body are disrupted, mainly due to the dysfunction of an enzyme or its cofactor, a receptor, substance transporter, membrane, or structural component.
Inherited metabolic disorders fall into different categories, depending on the specific substance involved and whether it builds up in harmful amounts (because it’s toxic and can't be broken down), it's too low or it's missing.
Some metabolic disorders can be diagnosed by routine screening tests done at birth while others are identified only after a child or adult shows symptoms.
These diseases are mostly inherited in an autosomal recessive manner, which means a family marriage, or a history of related death, or a similar disease in the family. Other types of inheritance, especially through mitochondrial genes, are also seen among patients sufferng from these diseases.
Congenital metabolic disorders can have irreparable impacts on people's quality of life and sometimes lead to irreparable damage such as mental and physical retardation, and in some cases cause the death of babies.
Diagnosing these diseases at birth and then taking simple measures such as adjusting the diet can eliminate the effects resulting from these diseases in most cases and moderate the huge costs imposed on the patient and the society.
Accordingly, fast and reliable tests are needed to ensure timely and error-free diagnosis of these diseases, especially by the time of birth.
Also, these tests should be able to simultaneously track all metabolic diseases in one analysis, so that immediately after the diagnosis of the metabolic disease, preventive measures can be taken to control it from the birth of the baby.
The domestic device for this issue has all the essential features and can track all the metabolic diseases in one test.
Mainly designed for medical centers and hospitals, the domestic device can prevent a significant currency outflow needed to import foreign counterparts.
Simple, Smart and Efficient DNA Extraction Kit Developed
Another domestic company had developed a simple and smart DNA extraction kit using saliva with high efficiency, which is a suitable alternative to the DNA extraction method using blood.
Considering the many applications of DNA extraction and its genetic analysis in several fields, including research, medicine and forensic science, using a reliable method is of high importance.
In cases where it is necessary to conduct genetic tests in people with special conditions, like old people, children under three years and people with special diseases, blood sampling becomes problematic and, at times, impossible.
Saliva sampling is an easy and reliable method employed by the DNA extraction kit produced by Zista Gene Afarin Company, which is based on sedimentation and column methods, and uses silica.
The saliva sample contains buccal cells and white blood cells, in addition to bacteria. Therefore, stabilizing and inhibiting the growth of natural bacteria in the saliva are important to increase the share of human DNA compared to bacterial DNA.
To solve this problem, the company has designed a saliva retention buffer that helps stabilize the sample at ambient temperature for at least six months and at -20 degrees Celsius or -80 degrees Celsius for more than a year. This part is not included in the kit and can be bought separately.
The domestic kit allows the extraction of genomic DNA from at least one milliliter of a saliva sample.
In general, this method extracts DNA of high molecular weight and higher purity, which can be used in many downstream molecular reactions and analyses, including polymerase chain reaction, DNA sequencing and genotyping.
