Articles, insights, and posts about Child Development, early detection, and new methods in diagnosis and treatment.
Face2Gene is a suit of technologies that aims to help clinicians to fasten the time of diagnosis of rare and ultra-rare genetic conditions. You might know the best-of-its-class Next-Generation Phenotyping ai facial recognition use of this app, but there are more tools at your disposal that facilitate comprehensive and precise genetic evaluations. Check out all […]
ThinkGenetic recently hosted a panel discussion among researchers involved in the Genomics Collaborative, an FDNA initiative connecting researchers, clinicians, patients, laboratories, and advocacy groups to further disease discovery. Panel members presented their work with the collaborative, followed by a Q&A session moderated by Dawn Laney, all of which is available to watch at the bottom […]
Note: This talk was presented at the 2018 ACMG annual meeting. The video can be seen below, or at this link> Dr. Christine Stanley, Head of Clinical Laboratory for WuXi NextCODE, US and CLIA medical director for Q&A Diagnostics, discusses next-generation phenotyping for improved variant interpretation through integration of Face2Gene LABS with WuXi NextCODE’s variant interpretation […]
Note: This talk was presented at the 2018 ACMG annual meeting. The video can be seen below, or at this link> HISTORY Since the 1960s, the field of medical genetics has been evolving rapidly with regard to phenotype delineation and analysis. A disease phenotype requires a multi-faceted analysis. Besides defining the phenotype with diagnostic criteria, […]
Note: This talk was presented at the 2018 ACMG annual meeting. The video can be seen below, or at this link> Starting in 1996, a select few clinicians began identifying a small group of patients with similar phenotypic features: Down-syndrome-like facial features, short stature, intellectual disability, cataracts and sensorineural hearing loss. Among these clinicians was […]
FDNA’s CEO, Dekel Gelbman, joined two distinguished members of the genetics community—Dr. John Carey (University of Utah) and Dr. Christine Stanley (WuXi NextCODE)—on redefining phenotyping for clinical advancements and variant prioritization. Dr. Carey. a highly-practiced clinician, currently at the University of Utah’s Department of Medical Genetics, kicked off the webinar with a comprehensive background on […]