Baylor Genetics is set to showcase groundbreaking innovations in RNA sequencing for rare disease diagnosis at the 2025 Advances in Genome Biology and Technology (AGBT) Precision Health Meeting, according to a recent announcement shared via The Manila Times. These advances promise to significantly enhance the ability of clinicians and researchers to identify and understand rare genetic disorders, leading to more accurate diagnoses and improved patient outcomes.
RNA sequencing, or transcriptome analysis, examines the complete set of RNA transcripts produced by the genome in specific cells or tissues. Unlike traditional DNA sequencing, which looks for genetic variants in the genome, RNA sequencing provides direct insight into how genes are expressed and how those expressions may be altered in disease states. This technology is especially valuable in diagnosing rare diseases, many of which result from complex disruptions in gene expression that standard DNA tests can miss.
At the AGBT Precision Health Meeting, Baylor Genetics will present their latest research and clinical applications demonstrating how RNA sequencing can uncover elusive genetic causes of rare diseases. Their approach integrates RNA sequencing with advanced bioinformatics and clinical interpretation, allowing for the detection of abnormal splicing events, gene expression changes, and other pathogenic mechanisms that are often invisible to DNA-based testing alone.
The company’s presentation will highlight several case studies where RNA sequencing enabled the diagnosis of patients with previously unexplained symptoms, even after extensive DNA testing. By identifying disease-causing mutations that impact RNA processing and gene expression, clinicians were able to deliver precise diagnoses and, in some cases, guide targeted treatment decisions.
Baylor Genetics’ advancements also include the development of streamlined protocols and clinical-grade assays, making RNA sequencing more accessible and reliable for routine clinical use. The integration of these tools into clinical genetics is expected to raise diagnostic rates for rare diseases, shorten the often years-long diagnostic odyssey for patients, and offer new insights into disease mechanisms.
The announcement underscores Baylor Genetics’ leadership in genomic medicine and their commitment to innovation in rare disease diagnostics. The company’s work aligns with a broader movement in precision health, where advanced genomic technologies are being harnessed to provide more personalized and effective care.
