by NIH/National Human Genome Research Institute National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care. Credit: Julia Fekecs, NHGRI National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care. This approach contrasts with the typical phenotype-first approach to...
An AI-powered, virtual platform is being developed to improve care for patients living with genetic disorders, as part of a Digital Health CRC project led by Peter MacCallum Cancer Centre and the Swinburne University of Technology. The online cloud-based platform, named GENIE, will initially focus on familial cancers and cardiac conditions, providing patients with guidance on...
by Elsevier Credit: Unsplash/CC0 Public Domain Using nanopore sequencing, a rapid third-generation cytogenetic analysis tool, investigators are now able to accurately detect specific genomic disorders in a fraction of the time it takes to conduct traditional and molecular cytogenetic testing. This facilitates earlier diagnosis of genetic disorders and accelerates appropriate clinical management for patients and...
by Iqbal Pittalwala, University of California – Riverside Credit: Myriam Zilles on Unsplash. Nonsense-mediated RNA decay, or NMD, is an evolutionarily conserved molecular mechanism in which potentially defective messenger RNAs, or mRNAs, are degraded. By reducing errors in gene expression, it serves as an RNA quality control and gene regulatory mechanism. Its disruption can lead to neurological...
by Rutgers University Credit: CC0 Public Domain Rutgers researchers have linked the genetic disorders Fragile X and SHANK3 deletion syndrome—both linked to autism and health problems—to walking patterns by examining the microscopic movements of those wearing motion-sensored sneakers. The method, published in a new study in the journal Scientific Reports, detects gait problems 15 to 20...
Dr. Maximilian Muenke has a superpower: He can diagnose disease just by looking at a person’s face. Specifically, he can spot certain genetic disorders that make telltale impressions on facial features. “Once you’ve done it for a certain amount of years, you walk into a room and it’s like, oh, that child has Williams...
