Articles, insights, and posts about Child Development, early detection, and new methods in diagnosis and treatment.
Two mothers from two different countries share a similar story: a 10 year long journey to find a diagnosis for their sons. Early photographs of their sons uploaded to Face2Gene indicated a high match with the syndromes they were later diagnosed with. Nicolas (left) and Bug (right) 3-year-old portraits match on Face2Gene to their eventual […]
With this new update, healthcare providers can use Face2Gene to search for genes within the phenotypic results. A form of Reverse Phenotyping that provides yet another tool to help clinicians diagnose patients with rare and ultra-rare genetic disorders- even in cases where the results were VUS (variants of unknown significance). With exome and whole genome […]
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” […]
The FDNA team is excited to be at the American Society of Human Genetics (ASHG) Annual Meeting, October 25-29 in Los Angeles. ASHG is the world’s largest gathering of human genetics professionals, bringing in members and scientists from all over the world to share their research. You can see our top picks of what to […]
For ten years Maria Rayane knew something was not right with her son Nicolas. She was told by different specialists that his developmental delay was caused by birth complications and as such, made her feel guilty for a long time. Yet deep down, she had a feeling the specialists were wrong. The years passed by […]
Check out the new and improved AI capabilities designed to help you diagnose patients earlier (October 2022 updates): Instantly extract features from a dictated clinical note No time to write the clinical note? Simply say it and it will be written down. By clicking “Extract Features”, the relevant traits/features (HPO terms) will be suggested for […]
Dr. Himanshu Goel utilized FDNA’s Artificial intelligence that instantaneously matches rare disease patients’ photos with other patients’ photos around the world to allow even the rarest of genetic diseases to be identified. Dr. Himanshu Goel, a clinical geneticist in Newcastle, Australia, used the help of Face2Gene photo-based GestaltMatcher technology to diagnose a 26-year-old patient with […]
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 […]
Dr. Tinatin Tkemaladze is the Head of the Department of Molecular and Medical Genetics at Tbilisi State Medical University, the largest medical university in Georgia. She also is a practicing clinician with expertise in rare diseases, especially those presenting dysmorphisms and neurodevelopmental delay. Recently, she was selected to be a board member of the European […]