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When most people think about places advancing rare disease diagnostics, sequencing, and treatments, big U.S. centers like Rady Children’s Institute for Genomic Medicine or Boston Children’s Hospital come to mind. But clinician scientists Vorasuk Shotelersuk, MD, and Shahida Moosa, MD, PhD, are showing what rare disease genomics can look like when it is driven from…

East Carolina University graduate student Holly Maschenik’s research may provide treatments for patients with health concerns ranging from bacterial infections to cancer. With the mentorship of physics professor Dr. Yong-Qing Li, she is pursuing research that tricks harmful cells into dropping their defenses, making them easier to kill

Short-read sequencing (SRS)-based disease-targeted NGS gene panels have revolutionized rare disease diagnostics but often leave autosomal recessive cases unsolved when only one pathogenic allele is detected. Missing variants may reside in deep intronic regions or involve structural variants (SVs) undetectable by SRS. To improve diagnostic yield, we implemented a cost-effective target capture-based long-read sequencing (LRS)…