SHANGHAI, CHINA, April 10, 2024—Jiangsu Bioperfectus Technologies Co., Ltd. (BioPerfectus) is excited to announce that our latest product, the Survival Motor Neuron 1 (SMN1) Gene Detection Real Time PCR Kit, has obtained the CE marking. Additionally, we offer a total PCR solution for Prenatal & Neonatal Care, including our Automated Nucleic Acid Extraction Workstation, Real-Time PCR System, and PCR kits. This solution is tailored to empower and prioritize the health of mothers and newborns through efficient screening.
Spinal Muscular Atrophy (SMA) is a genetic disorder that affects approximately 1 out of every 10,000 people. Most cases of SMA occur when a segment of a gene called SMN1 is missing, resulting in the gene being unable to make protein. SMN1 is primarily responsible for making survival motor neuron (SMN) protein, which is required to maintain normal motor neuron function. Without enough SMN protein, motor neurons will degenerate, causing progressive loss of controlled muscle movement. There are different levels of SMA severity. Typically, the earlier the onset of the disease, the more severe the symptoms. SMA can affect a baby’s ability to swallow, breathe, sit, and walk. Without early treatment, SMA can also result in premature death.
To address this global burden more effectively, more organizations and foundations are giving greater attention to this disease. In the US, SMA was added to the “recommended uniform screening panel” (RUSP) in 2018. From the European Alliance for Newborn Screening in SMA, "There is no more time to waste for babies born with SMA - newborn screening programs for SMA in all European countries no later than 2025”.
Specializing in infectious diseases, women's health and children's health, BioPerfectus actively tackles challenges presented by rare diseases. We are dedicated to developing new diagnostic solutions and work diligently to provide a comprehensive range of Prenatal & Neonatal Care panels. By offering a comprehensive diagnostic solution, BioPerfectus is committed to aiding in the early-stage screening and diagnosis of Spinal Muscular Atrophy disease, ensuring accurate detection to prevent severe outcomes, and prioritizing the health of mothers and newborns.
Reference:
- www.sma-screening-alliance.org
- https://www.cdc.gov/nceh/dls/nsmbb_sma.html
- European Union Should Actively Stimulate and Harmonise Neonatal Screening Initiatives. Loeber, J. G. 2018, International journal of neonatal screening, 4(4), 32.
- Request Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Mercuri, E., Finkel, R. S., Muntoni, F., et al. 2018, Neuromuscular disorders: NMD, 28(2), 103–115.
- Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements, and immunizations; other organ systems; and ethics. Finkel, R. S., Mercuri, E., Meyer, O. H., et al. 2018, Neuromuscular disorders: NMD, 28(3), 197–207.
