Articles, insights, and posts about Child Development, early detection, and new methods in diagnosis and treatment.
Face2Gene’s Pediatrician View is a tool that aids pediatricians in evaluating the potential benefits of genetic testing for their patients. Dr. Antonio Martínez Carrascal, the Head of Pediatrician Services at Hospital de Requena, Spain, has been at the forefront of incorporating this innovative tool into his practice. Through a series of enlightening videos, Dr. Carrascal […]
A recent case report published on Frontiers Genetics highlights the usefulness of Face2Gene as a tool for the identification of Tatton–Brown–Rahman syndrome (TBRS) and Say–Barber–Biesecker– Young–Simpson variant of Ohdo syndrome (SBBYSS), two extremely rare genetic disorders with less than 100 reported cases. Written by Park S, Kim J, Song T-Y and Jang D-H from the […]
In this case, Face2Gene helped Dr. Cyndy Curry by motivating targeted genetic testing for a family that had long gone undiagnosed, saving significant time and money in the process. WHO In this case, Face2Gene helped Dr. Cyndy Curry by motivating targeted genetic testing for a family that had long gone undiagnosed, saving significant time and […]
In this case, Face2Gene helped Dr. Lynne Bird focus analysis on a single variant in a setting where the patient had limited financial support for genetic testing. WHO Dr. Lynne Bird is a dysmorphologist and clinical geneticist at Rady Children’s and a long-time user of Face2Gene. She regularly uses the app to help in her […]
In this case, Face2Gene helped Dr. Li target the analysis of a gene that otherwise would not have been analyzed, ultimately identifying the diagnostic variant. WHO Dr. Hong Li is a clinical and biochemical geneticist at Emory University specializing in the diagnosis and treatment of inherited metabolic disorders, lysosomal storage diseases, genetic disorders with dysmorphic […]
After a successful experience using Face2Gene in his telehealth clinic in Scottsbluff, Dr. Abdul-Rahman decided to start another clinic using the same model, this time even further away in Gordon, Nebraska. WHO Dr. Omar Abdul-Rahman is the Director of Genetics at the Munroe-Meyer Institute. THE DILEMMA Here they saw a young child, only a few […]
In this case, Face2Gene helped Dr. Omar Abdul-Rahman get patients tested in a more rapid, targeted way, many times before a patient even walked through the door. WHO Dr. Omar Abdul-Rahman is the Director of Genetics at the Munroe-Meyer Institute. BACKGROUND For many years, the genetics team at the Munroe-Meyer Institute has provided genetic care […]