Articles, insights, and posts about Child Development, early detection, and new methods in diagnosis and treatment.
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 […]
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 […]
FDNA’s Year of Discovery Initiative is taking on a different genetic syndrome group each month as part of its mission to accelerate advancements and discoveries for all rare diseases. FDNA launched the Year of Discovery on February 28, 2017 to use cutting-edge technologies to advance rare disease research. In April, FDNA is partnering with Invitae […]
published as part of Access A.I.’s publication: “AI and Business: a Practical Guide.“ Our world is filled with data. Data on your shopping habits. Data on your physical health. Data on your genetics. The challenge of gaining insights lies not in a lack of data, but in a lack of using that data in a […]
This month in the Year of Discovery, FDNA spotlights syndromes categorized as RASopathies. Every case uploaded in March will be matched with a $1 donation sponsored by Blueprint Genetics and benefiting the Noonan Syndrome Foundation.* Every time a patient’s case is analyzed by Face2Gene, the de-identified information will train the system to recognize new associations […]
Dekel Gelbman, CEO of FDNA, was featured in Health Data Management discussing the value for hospitals of using clinical data warehouses for the storage and analysis of genomic and phenotypic information. Below is an excerpt: There are more than 7,000 rare diseases for physicians to consider when diagnosing a patient. For even the most experienced […]
Dekel Gelbman, CEO of FDNA, was featured in the Medical Device and Diagnostics Industry, discussing the value of facial analysis technology and phenotyping in discovering rare disease diagnoses. Below is an excerpt: Diagnosing rare and ultra-rare genetic diseases can be extremely difficult for geneticists. The diagnostic odyssey, from the primary point of care, through the […]
Dekel Gelbman, CEO of FDNA, was featured in Becker’s Hospital Review, discussing the value of phenotyping to hospitals involved in rare disease workflows. Below is an excerpt: Diagnosing rare diseases is like solving a puzzle, with physicians trying to fit together many complex clues. Unfortunately, the 10% of the population who suffer from a rare […]