Articles, insights, and posts about Child Development, early detection, and new methods in diagnosis and treatment.
The experienced Genetic Counselor based in Florida tells us how her clinic uses Face2Gene in the workflow as a collaborative tool. “Our clinic is made up of a combination of five geneticists and five genetic counselors. We’re very fortunate to be able to see people of all ages throughout their lifetimes and have no real […]
Check out now the recording of the webinar that took place on June 3rd, 2022 about matching ultra-rare cases in the clinic. On the first video, Dr Karen Gripp talks about the use of the GestaltMatcher algorithm in Face2Gene CLINIC. On part 2, Prof Peter Krawitz dives into the technology that makes this possible. Follow […]
Precision Medicine World Conference (PMWC)| September 24-25, 2018 | Duke University This post is based on a presentation given at PMWC Duke. Watch the full presentation here. At the Precision Medicine World Conference (PMWC) Duke meeting, Dr. Omar Abdul-Rahman, Friedland Professor and Director of Genetic Medicine at the University of Nebraska Medical Center, told the […]
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 […]
FDNA’s CEO Dekel Gelbman recently spoke to hundreds of leaders during the Stanford Big Data in Precision Health Summit. The article below is based on the information he presented at the conference. By now, AI is so commonplace it’s almost embarrassing if a tech company doesn’t use it. But as much as the sci-fi world […]
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 means the field needs a uniform understanding of what phenotypes […]
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 […]
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> 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, medical […]