Articles, insights, and posts about Child Development, early detection, and new methods in diagnosis and treatment.
Dr. Karen Gripp, MD, Chief of the Division of Medical Genetics at Nemours Children’s Health in Wilmington, has been at the forefront of groundbreaking research into what is now termed Fetal Fentanyl Syndrome—a novel condition observed in children exposed to fentanyl in utero in the context of a maternal opioid use disorder. This emerging syndrome […]
We spoke with Dr. Gholson Lyon about his article that shows the utility of facial analysis to diagnose 25 KBG Syndrome patients from 8 different countries. Published in the esteemed peer-reviewed journal European Journal of Human Genetics, the paper titled “KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients” […]
Manchester, Md. – KBG Foundation, a U.S.-based nonprofit organization working to improve the lives of people with KBG Syndrome, is again collaborating with FDNA to grow its Face2Gene platform, a valuable tool that can lead to earlier diagnosis of rare genetic disorders. The platform uses facial analysis technology to make it easier for physicians to […]
Rare diseases affect roughly 30 million Americans, yet only 5 percent of the estimated 7,000 known rare diseases have cures or treatments approved by the FDA. Each February, clinical, tech, and advocacy communities around the world pause to reflect on this fact and take time to recognize the strides we’ve made and what is to […]
Change in healthcare comes in many forms. Some say it’s legislature. Some say it’s technology. Some will cite time and patience–but those with an inside view on rare disease advocacy know that the driving force behind change usually comes in the shape of a mother who has just been told her child’s life will never […]
Today is World Rare Disease Day 2018. At FDNA, we recognize that one day is simply not enough time to raise awareness for the plight of rare and undiagnosed patients. Their diseases impact their lives and the lives of their families every day. Their symptoms, their struggles, their fight for more awareness–both socially and in […]
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 […]