The ROSSA company was the first in Uzbekistan to develop and register a kit for identifying orphan diseases


The ROSSA company has achieved a significant breakthrough in the field of medical diagnostics, becoming the first in Uzbekistan to develop and register kits for the detection of a number of orphan diseases, including spinal muscular atrophy (SMA), for neonatal screening of newborns for SMA and primary immunodeficiencies (SMA/PID) and allele 27 of the human major histocompatibility complex locus B (HLA-B27) by real-time polymerase chain reaction (PCR).

Development value:

Spinal muscular atrophy (SMA): This is a rare genetic disorder that causes progressive muscle weakness and wasting. Thanks to a new set of diagnostic tests, doctors will be able to determine the presence of this disease much faster and more accurately, which will allow timely treatment to begin and improve the quality of life of patients.

Primary immunodeficiencies (PIDs): PIDs are characterized by disturbances in the immune system, making the patient more susceptible to infections. Early detection of these disorders using the new diagnostic kit will help in timely diagnosis and initiation of therapy, thereby preventing serious complications.

HLA-B27 allele: Associated with a number of autoimmune diseases such as ankylosing spondylitis. A kit to detect this genetic marker will allow doctors to diagnose these diseases earlier and more effectively treat them.

Technological features:
Kits from the ROSSA company use the real-time polymerase chain reaction (RT-PCR) method, which provides:

High sensitivity and specificity: Allows detection of even minimal amounts of genetic material.
Fast results: Diagnostics can be completed within a few hours.
Real-time monitoring: Provides highly accurate and reliable results.

Impact on healthcare
Screening and detection: New kits could be included in national newborn and adult screening programs, making it easier to detect genetic diseases at an early stage.
Personalized Medicine: Accurate and timely diagnoses will enable personalized treatment plans for patients, improving the efficiency of care.
Research: These kits will open up new opportunities for research work, which could ultimately lead to the development of new therapeutic methods.

The developments of the ROSSA company will not only have a positive impact on the healthcare of Uzbekistan, but will also strengthen the country’s position in the international arena in the field of medical diagnostics and biotechnology. This success is an important step forward in improving the health of millions and improving the level of health care services in the country.