Articles, insights, and posts about Child Development, early detection, and new methods in diagnosis and treatment.
Disorder: 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 […]
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 […]
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 […]
This month in the Year of Discovery, FDNA spotlights overgrowth syndromes. Every case uploaded in April will be matched with a $1 donation sponsored by Invitae and benefiting the Child Growth Foundation.* Every time a patient’s case is analyzed by Face2Gene, the de-identified information will train the system to recognize new associations between phenotypes, facial […]
In March, 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 RASopathies, in partnership with Blueprint Genetics and the Noonan Syndrome Foundation. A research team at FDNA, dedicated to making new discoveries with this data, has released […]