Articles, insights, and posts about Child Development, early detection, and new methods in diagnosis and treatment.
Sandra Mesri, founder of the advocacy group Apehi, suffers from a condition called Acromegaly, a rare disorder that occurs when your body produces too much growth hormone (GH). Just as it often happens with rare diseases, she struggled to find the diagnosis. It took her more than three years to finally get an answer as […]
Lauren’s birth was déjà vu for her parents. She had extra fingers, the same as her 7-year older brother Tyler when he was born. This made them think that they might have a genetic condition since they also shared similar symptoms such as developmental delay. It would take 3 more years for them to be […]
The experienced Genetic Counselor based in Florida tells us how her clinic uses Face2Gene in the workflow as a collaborative tool. “Our clinic is made up of a combination of five geneticists and five genetic counselors. We’re very fortunate to be able to see people of all ages throughout their lifetimes and have no real […]
FDNA team is gearing up for conferences and meetings in 2023, and we are excited to share with you new developments and updates. Check out below the events we will be attending, and if you have any questions contact us to schedule a meeting. 14th International Congress of Human Genetics – ICHG 2023 FEBRUARY 22-26 […]
Collaborate on Shared Cases with your colleagues leveraging cumulative knowledge Using Face2Gene as a TEAM allows you to securely share cases and analyze them together with your colleagues while considering the different analyses the tool offers. This means that for every case, you can decide whether it is a case to share (TEAM CASE) or your […]
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 […]