Redcliffe Labs, a purpose-driven PAN India omnichannel diagnostics service provider, has achieved a significant breakthrough in understanding SENEBAC syndrome. The study, published in the American
Journal of Medical Genetics Part A, has documented a newly discovered genetic variant, c.720G>A,p.(Trp240*), in the NRROS gene. This discovery paves the way for earlier, more accurate diagnosis and personalized care approaches, instilling hope for improved patient outcomes.
The study focused on a 1-year-9-months female child whose symptoms began around nine months of age.To find the root cause of her condition, a team of doctors employed a focused genetic test called exome sequencing. This test examines specific areas of DNA responsible for making proteins. Through this
process, the team identified a previously unknown mutation in the NRROS gene, marking only the 12th
reported case of SENEBAC syndrome worldwide.
The SENEBAC syndrome is known to disrupt normal brain development and function, leading to serious symptoms such as frequent seizures, developmental delays, and the gradual loss of skills in young children. The syndrome is linked to mutations in the NRROS gene, which is crucial in protecting brain cells from damage caused by inflammation. In children affected by SENEBAC, a change in this gene weakens that protection, leaving the brain more susceptible to inflammatory harm that progressively impacts the child's neurological health.
The report highlights that when the gene is altered due to a mutation, the microglia lose their ability to guard neurons effectively, resulting in the damage seen in SENEBAC syndrome. By highlighting this mechanism, the research findings emphasize the potential for targeted care approaches to protect
children's brains that are better affected by inflammation, helping them manage symptoms and improve their quality of life.
Aditya Kandoi, CEO and Founder Redcliffe Labs, said, "We are dedicated to expanding our expertise across all the fields to provide society with the most advanced diagnostic solutions. Our focus is to broaden our specialized testing capabilities, including super-specialized pathology, to address the
increasingly complex needs of healthcare. Our team of experts actively contributes to medical knowledge,advancing diagnostic precision and patient care. We congratulate Dr. Himani Pandey for her crucial role in the recent SENEBAC syndrome research, which brings valuable insights into this rare neurodevelopmental condition. Contribution of Medical experts, Dr Himani Pandey and her team highlights the profound impact that focused research and expertise can have in shaping the future of diagnostics and patient care."
Dr. Himani Pandey added, "Genomics is more than decoding DNA—it's the foundation for breakthroughs that redefine patient care. At Redcliffe Labs, we drive this revolution by combining cutting-edge research with unparalleled accuracy, delivering insights that empower precision medicine
and transformative healthcare solutions." The importance of this discovery goes beyond just identifying a mutation. By recognizing the exact genetic change responsible, doctors can more confidently diagnose SENEBAC syndrome when observing similar symptoms in other children. This accuracy helps families avoid a lengthy and uncertain diagnostic process and enables more timely care. Furthermore, knowing the genetic mutation can guide discussions with families on whether the condition might affect other children or future generations, giving parents essential information about their family's health.
