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Continue reading FDNA Presents Rare Disease Technologies at the 2017 Precision Medicine Summit at Boston Children’s Hospital
Continue readingThe Division of Genetics and Genomics Department of Medicine at Boston Children’s Hospital will present its exciting new Fall Precision Medicine Summit. The event will last for five days from September 18, through September 22. FDNA, an event sponsor and invited speaker, is scheduled to present its leading application, Face2Gene, at the gathering. Face2Gene’s artificial […]
Disorder: The Rare Disease Film Festival
Continue readingDisorder: The Rare Disease Film Festival will be held October 2 & 3, 2017 in Boston, MA. This is a new event showcasing films from around the world that address the challenges of life with a rare disease. It will be held Oct. 2 & 3, 2017 in Boston, MA. Most, but not all, of the films […]
Izzy’s Journey with 22q and CHD
Continue readingFDNA 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 […]
Spotlight on Inherited Heart Conditions for the Year of Discovery
Continue readingFDNA 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 […]
Facial Analysis Discoveries for CHARGE Syndrome in the Year of Discovery
Continue readingThe 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 […]
Tyler and Lauren’s Journeys with Bardet Biedl Syndrome
Continue readingFDNA 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 […]
Emma and Naomi’s Journeys with Bardet Biedl Syndrome
Continue readingSpecial 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 […]
Facial Analysis Discoveries for Sanfilippo Syndrome B (MPS IIIB)
Continue readingIn 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 […]
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