Articles, insights, and posts about Child Development, early detection, and new methods in diagnosis and treatment.
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 […]
“When you know, when it has a name, even if it doesn’t have a cure, you can find a new family” Now a young adult, it took 10 years for Bug to be diagnosed, when a simple photo in Face2Gene could have pointed his doctor to the right diagnosis When Glenn “Bug” Maughan was […]
Check out now the recording of the webinar that took place on June 3rd, 2022 about matching ultra-rare cases in the clinic. On the first video, Dr Karen Gripp talks about the use of the GestaltMatcher algorithm in Face2Gene CLINIC. On part 2, Prof Peter Krawitz dives into the technology that makes this possible. Follow […]
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 […]
The FDNA team is gearing up for ACMG meeting 2022 and we’re excited to share with you new developments and updates to Face2Gene since last year’s conference! Interested in learning more about all of the new functionalities in Face2Gene? Visit us at booth #509 or contact us to schedule a meeting. While at the conference, […]