Articles, insights, and posts about Child Development, early detection, and new methods in diagnosis and treatment.
December Discoveries – Skin Disorders 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. About Skin Disorders Abnormalities of the hair, skin, sweat glands, nails, and teeth are frequently associated with various […]
Photo from the National Foundation for Ectodermal Dysplasias (NFED) website. FDNA focused on skin disorders in December for the Year of Discovery. We are uniting healthcare, advocacy, and technology for rare disease advancements. Every time a case is analyzed by Face2Gene, the de-identified case data can train the system to recognize new phenotypes, facial characteristics and genes. […]
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 […]
October Discoveries – Skeletal Dysplasias 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. About Skeletal Dysplasia Although they are some of the less common genetic disorders, there are over 200 types […]
September Discoveries – Craniosynostosis and Craniofacial Conditions 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. About Craniofacial Conditions One in every 10,000 children is born with a craniofacial malformation. When these conditions are classified as severe, survival often […]
November Discoveries – Seizure and Epilepsy-related Conditions 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. About Seizure and Epilepsy Disorders Seizure and epilepsy-related conditions fall […]
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 […]