Articles, insights, and posts about Child Development, early detection, and new methods in diagnosis and treatment.
Lissencephalies and Other Brain Malformations FDNA collaborated with the American Brain Foundation, sponsored by Fabric Genomics, to promote awareness of Lissencephalies and other brain malformations throughout the month of August as part of FDNA’s Year Of Discovery. About Baraitser-Winter Syndrome Baraitser-Winter Syndrome is an incredibly rare disease with less than 50 cases reported in medical […]
Spotlight On Congenital Heart Defect Syndromes, Aortopathies, and other Inherited Heart Conditions As part of FDNA’s Year of Discovery, GeneDx and the Children’s Heart Foundation helped FDNA advance research into July’s featured category of syndromes – inherited heart conditions. The data collected during the initiative is being analyzed by a research team at FDNA in […]
Am J Med Genet C Semin Med Genet. 2017 Sep;175(3):320-328. doi: 10.1002/ajmg.c.31568. Epub 2017 Aug 2. Carey JC. Abstract: The designation, phenotype, was proposed as a term by Wilhelm Johannsen in 1909. The word is derived from the Greek, phano (showing) and typo (type), phanotypos. Phenotype has become a widely recognized term, even outside of the genetics community, in recent years […]
Jean Tori Pantel, Max Zhao, Martin Atta Mensah, Nurulhuda Hajjir, Tzung-Chien Hsieh, Yair Hanani, Nicole Fleischer, Tom Kamphans, Stefan Mundlos, Yaron Gurovich, Peter M. Krawitz . Access the full article at BioRXIV or doi: https://doi.org/10.1101/219394 Abstract Significant improvements in automated image analysis have been achieved over the recent years and tools are now increasingly being used in computer-assisted syndromology. However, the recognizability of the facial gestalt might depend on the syndrome and may also be confounded by the […]
“Morgan is so expressive. She smiles and she lights up the room. She just loves watching what’s happening and singing songs.” said Morgan’s mother, Trish. Morgan, now 5 years old, was born to two thrilled and loving parents, seemingly healthy. “We came home and had many months of pure bliss. We were just in love […]
The American Society of Human Genetics 67th Annual Meeting (ASHG 2017) Orange County Convention Center · Orlando, Florida October 17-21, 2017 Orlando, FL – The Face2Gene team has started packing to attend the 67th ASHG Annual Meeting in sunny Orlando, FL. ASHG is the world’s largest gathering of human genetics professionals, bringing in members and […]
The Division of Genetics and Genomics Department of Medicine at Boston Children’s Hospital will present its exciting new Fall Precision Medicine Summit. The event will last for five days from September 18, through September 22. FDNA, an event sponsor and invited speaker, is scheduled to present its leading application, Face2Gene, at the gathering. Face2Gene’s artificial […]
Disorder: The Rare Disease Film Festival will be held October 2 & 3, 2017 in Boston, MA. This is a new event showcasing films from around the world that address the challenges of life with a rare disease. It will be held Oct. 2 & 3, 2017 in Boston, MA. Most, but not all, of the films […]