Articles, insights, and posts about Child Development, early detection, and new methods in diagnosis and treatment.
By Dr. Karen Gripp, Chief Medical Officer at FDNA Next-generation phenotyping (NGP) is characterized by the use of computer learning tools to assess a patient’s presentation (phenotype). For precision medicine to reach its full potential, it requires the combination of NGP with the large data sets derived from next-generation sequencing (NGS). Before new technologies can […]
2019 was a year of activism, shifts in political ideology, and tech innovation, all resulting in a pause for reflection on how we interact with our planet, one another, and technology. At FDNA, we found ourselves amidst, and on track with, the seemingly daily advancements in the health and technology sphere. Our small (but mighty!) […]
The world is bearing witness to a technological revolution that fundamentally changes how we do everything from creating music, to driving a car, and even online shopping. Opinions of AI vary as to whether the technology is an actual benefit to the world as a whole or a potential threat to personal and national security. […]
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 […]
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 […]