Articles, insights, and posts about Child Development, early detection, and new methods in diagnosis and treatment.
As part of FDNA’s Year of Discovery, FDNA collaborated with the National Foundation for Ectodermal Dysplasias, sponsored by GeneDx, to research and promote awareness of Skin Disorders throughout the month of December. Abnormalities of the hair, skin, sweat glands, nails, and teeth are frequently associated with various genetic diseases. The list of rare skin disorders […]
Genetic sequencing is becoming a more popular diagnostic tool; however, even with all the advancements, it only reaches a diagnosis for 1 of 4 patients. Listen to GeneDx’s Kyle Retterer and FDNA’s Dekel Gelbman discuss how next-generation phenotyping (NGP) technology/precision phenomics is making way for a new era in precision medicine, driving up genetic testing […]
As part of FDNA’s Year of Discovery, FDNA collaborated with the Little People of America, sponsored by EGL Genetics, to research and promote awareness of Skeletal Dysplasias throughout the month of October. Although they are some of the less common genetic disorders, there are over 200 types of skeletal dysplasias. Achondroplasia, along with other forms […]
FDNA collaborated with the World Craniofacial Foundation, sponsored by Blueprint Genetics, to promote awareness of Craniosynostoses and other craniofacial conditions throughout the month of September. One in every 10,000 children is born with a craniofacial malformation. When these conditions are classified as severe, survival often depends on one or more procedures, most of which are […]
As a part of FDNA’s Year of Discovery, FDNA collaborated with the C.U.R.E: Citizens United for Research in Epilepsy, sponsored by Allele Diagnostics, to research and promote awareness of seizure and epilepsy-related conditions throughout the month of November. Seizure and epilepsy-related conditions fall under the broad and prevalent category of neurological disorders. When there is […]
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. Baraitser-Winter Syndrome is an incredibly rare disease with less than 50 cases reported in medical literature. The development of several areas of the […]
Spotlight On Congenital Heart Defect Syndromes, Aortopathies, and other Inherited Heart ConditionsAs 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 an […]
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 […]