Articles, insights, and posts about Child Development, early detection, and new methods in diagnosis and treatment.
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 […]
Title: P09.022B – Interest of searching dysmorphic features in Autism Spectrum Disorder: Comparison of clinical geneticists and Face2Gene photos analyses Keywords: autism; dysmorphology; Face2Gene Authors: S. Tordjman1, C. Robert2, N. Fleischer3, C. Baumann4, L. Burglen5, D. Cohen6, D. Héron7, N. Pichard8, A. Verloes4, C. Quelin9, F. Demurger9, M. Fradin9, L. Pasquier9, S. ODENT9,10; 1Pôle Hospitalo-Universitaire de […]
Title: P14.075C – Automated patient matching from facial photos – initial feasibility study Automated patient matching from facial photos – initial feasibility study Keywords: photos; facial Authors: N. Ekhilevitch1,2, T. Hershkovitz1, A. Kurolap2, M. Steinberg1, H. N.Baris1,2, N. Fleischer3;1The Genetics Institute, Rambam Health Care Campus, Haifa, Israel, 2The Ruth and Bruce Rappaport Faculty of Medicine, […]
Title: P14.083C – From Face to Gene – Identifying the Genotype of RASopathies with FDNA Keywords: RASopathies; Facial Dysmorphology Novel Analysis technology Authors: S. B. Kamphausen, M. Zenker;Institute of Human Genetics, Magdeburg, Germany. Abstract: Introduction: RASopathies comprise a group of disorders caused by germline mutations in RAS-MAPK pathway genes. Characteristic features are growth retardation, heart defects […]