Articles, insights, and posts about Child Development, early detection, and new methods in diagnosis and treatment.
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, […]
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 […]