Articles, insights, and posts about Child Development, early detection, and new methods in diagnosis and treatment.
FDNA focused on congenital heart defect syndromes, aortopathies and other inherited heart conditions in July for the Year of Discovery. We are uniting healthcare, advocacy and technology for rare disease advancements. Every time a case is analyzed by Face2Gene, the de-identified case data can train the system to recognize new phenotypes, facial characteristics and genes. This information will improve […]
FDNA highlights inherited heart conditions in July for the Year of Discovery. We are uniting healthcare, advocacy and technology for rare disease advancements. Every case uploaded in July will be matched with a $1 donation sponsored by GeneDX, benefiting the Children’s Heart Foundation.* Every time a patient’s case is analyzed by Face2Gene, the de-identified information can train […]
The performance of FDNA’s facial analysis technology, Face2Gene, was recently put up to the challenge of recognizing facial features of children ages 2-6 with CHARGE syndrome compared to a control group of children with other syndromes. The results demonstrate that this technology successfully recognizes children with CHARGE syndrome with a high degree of accuracy (measured […]
FDNA highlights eye disorders in June for the Year of Discovery. We are uniting healthcare, advocacy, and technology for rare disease advancements. Every case uploaded in June will be matched with a $1 donation sponsored by Prevention Genetics, benefiting the Bardet Biedl Syndrome Foundation.* Every time a patient’s case is analyzed by Face2Gene, the de-identified information will train […]
Special thanks to Kathy Eby for sharing her daughters’ journeys and for co-authoring this post. Read her article on “Why Every Human Being Stands to Benefit from Rare Disease Research” at The Mighty. FDNA highlights eye disorders in June for the Year of Discovery. We are uniting healthcare, advocacy and technology for rare disease advancements. Every […]
In May, FDNA reached out to clinicians and patients globally as part of the Year of Discovery to collect and analyze patient data from a category of syndromes known as Metabolic Disorders and Lysosomal Storage Disorders (LSD) in partnership with Blueprint Genetics and the National MPS Society. As part of this research into new facial analysis and […]
FDNA highlighted metabolic disorders and LSDs during May for the Year of Discovery. We are uniting healthcare, advocacy and technology for rare disease advancements. Every case uploaded in May was matched with a $1 donation sponsored by Blueprint Genetics, benefiting the National MPS Society.* Every time a patient’s case is analyzed by Face2Gene, the de-identified information will train […]
In April 2017, FDNA analyzed patient data from syndromes categorized as Overgrowth Syndromes as part of the Year of Discovery, in partnership with Invitae and Child Growth Foundation. A research team at FDNA, dedicated to making new discoveries with this data, has released new results, in addition to the March RASopathy findings, in the ongoing […]
Special thanks to ThinkGenetic for contributing to this post. This month, the Year of Discovery spotlights metabolic disorder and LSDs. Uploading cases of MPS, Fabry and other syndromes in this category to FDNA’s Face2Gene application can help accelerate advancements. Every time a case is analyzed by Face2Gene, the de-identified case data will train the system to […]