Articles, insights, and posts about Child Development, early detection, and new methods in diagnosis and treatment.
Big data, next-generation phenotyping, and the possibilities for precision medicine This post is based on a presentation given at the Precision Medicine World Conference. You can skip to the video by clicking here. As researchers and clinicians expand their investigation of the relationship between phenotypes and genotypes, the importance of accurate phenotypic analysis grows. That […]
A flock of researchers from around the globe shared their findings in dysmorphology and molecular genetics at this year’s ESHG as a part of FDNA’s corporate satellite talk and various scientific posters. Karin Weiss (Rambam Health Care Campus, Haifa, Israel) presented her further work on Sifrim Hitz Weiss Syndrome (SIHIWES), a recently described form […]
The European Society of Human Genetics (ESHG) 42nd Annual Meeting 2018 MiCo – Milano Congressi · Milan, Italy · June 16-19, 2018 Milan, Italy – I don’t know about you, but here at FDNA, we are extremely excited for an action-packed week full of presentations, posters, meetings, and, of course, gelato! Take a look […]
“When you talk about precision medicine every disease can become somewhat of a rare disease because you’re going to increasingly segment down the different subtypes of that disease.” That’s host Simon Smith’s takeaway from the inaugural episode of BenchSci’s Artificial Intelligence in Drug Discovery podcast, a show offering knowledge and inspiration from leaders in the […]
Artificial intelligence has increasingly become the basis for advancing precision medicine. Tomorrow, at the ReWork Deep Learning in Healthcare Summit in Boston, MA, FDNA CEO Dekel Gelbman will be featured among other thought leaders—Cansu Canca, Founder and Director of the AI Ethics Lab, and Adrian Gropper, CTO at Patient Privacy Rights—to discuss balancing ethics and […]
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 […]