Articles, insights, and posts about Child Development, early detection, and new methods in diagnosis and treatment.
For the young and undiagnosed, having a doctor who can recognize their disease can make the difference between entering a life-saving clinical trial or missing out. It can make the difference between gaining access to therapies that may make them more functional versus missing the window for a critical opportunity of growth. An earlier diagnosis […]
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 […]
NOTE: This post is based on a presentation made at the March 2018 ePharma conference in New York City. As with every element of the medical and scientific world, the pharmaceutical industry has nearly endless options for digital technology tools. The challenge becomes how to maximize those digital technologies during three critical stages: discovery, development, […]
The American College of Medical Genetics (ACMG) Annual Clinical Genetics Meeting 2018 Charlotte Convention Center · Charlotte, North Carolina · April 10-14, 2018 Charlotte, NC – The wait for ACMG is finally over! FDNA’s Face2Gene team is heading to Charlotte over the next few days and is growing anxious to share with you all that we have planned […]
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 […]
In its 44 year history, Greenwood Genetic Center (GGC) has seen over 80,000 patient cases. That’s a lot of data. And hiding in the mountains of information are insights sometimes invisible to the human eye, insights that artificial intelligence like the Face2Gene technologies can tease out from obscurity. At the Microsoft booth at HiMSS, Anthony […]
HIMSS Conference, Microsoft booth Thursday, March 7 3:40 PM PST Las Vegas, Nevada As over 40,000 health IT professionals, clinicians, executives, and vendors from around the world gather at this year’s HIMSS Annual Conference & Exhibition, speaker Anthony Antonuccio, VP of Product at FDNA shares FDNA’s experience with one of the leading clinics, Greenwood Genetic […]