FDNA’s Year of Discovery Initiative will spotlight a different genetic syndrome group each month as part of their mission to accelerate advancements and discoveries for all rare diseases.
Boston, MA. March 9, 2017— FDNA launched the Year of Discovery on February 28th, 2017 to unite clinicians, labs and patients for rare disease advancements. March, the first month of the initiative, spotlights developmental syndromes classified as RASopathies, with support from Blueprint Genetics, a genetic knowledge company using Next-Generation Sequencing for clinical genetic diagnostics.
Clinicians and patients are encouraged to get involved to help advance understanding of syndromes in this category. As an incentive to get involved, Blueprint Genetics will donate $1* to the Noonan Syndrome Foundation for every case uploaded in March to FDNA’s free application designed for healthcare professionals, Face2Gene. The Noonan Syndrome Foundation seeks to support, educate, and advocate for those with a RASopathy condition known as Noonan Syndrome.
“Uploading case information to Face2Gene will improve our understanding of rare diseases and directly impact the lives of patients and families for years to come. Currently, 1 of 10 people in the U.S. suffers from a rare disease.” said Dekel Gelbman, CEO of FDNA. “The initiative is designed to create the world’s largest source of rare disease ‘big’ data that is analyzed by artificial intelligence to make discoveries that are immediately available to clinicians and researchers to more efficiently diagnose rare diseases.”
Doctors can make a direct impact by loading their patient phenotypes, facial photos and diagnoses to be analyzed by a HIPAA-compliant deep-learning technology that can make new discoveries. Patients are invited to request that their own information be included in the analysis.
Participation in the Year of Discovery campaign will work as follows:
For Clinicians:
- Log in or register for a free Face2Gene account at Face2gene.com or through the app on your mobile device
- Submit your patient photos, diagnoses and phenotypes for analysis
For Patients:
- Download and fill out the patient form at FDNA.com/YearOfDiscovery
- Submit the form to your doctor for review
- Doctors will upload the information to FDNA’s Face2Gene platform where it will be analyzed
Learn more about the Year of Discovery or get more detailed instructions at Face2Gene.com/tutorial
Below is the list of the ten targeted disease categories for 2017. Cases from other rare diseases can be shared as well during 2017, and they will be included in the search for discoveries as resources permit.
- March – RASopathies
- April – Overgrowth syndromes
- May – Metabolic conditions, including storage disorders
- June – Eye disorders
- July – Congenital heart defect syndromes, aortopathies, and other inherited heart conditions
- August – Lissencephalies and other brain malformations
- September – Craniosynostoses and Craniofacial conditions
- October – Skeletal dysplasias
- November – Seizure and epilepsy-related conditions
- December – Skin disorders
Today, 30 million people in the United States are living with a rare disease. Each case added thanks to the Year of Discovery initiative will provide invaluable information that will improve the overall understanding of rare diseases, affecting the lives of millions every day.
About Face2Gene and FDNA
Face2Gene is a suite of phenotyping applications that facilitates comprehensive and precise genetic evaluations. FDNA uses facial analysis, deep learning and artificial intelligence to transform big data into actionable genomic insights to improve and accelerate diagnostics and therapeutics. With the world’s largest network of clinicians, labs and researchers creating one of the fastest growing and most comprehensive genomic databases, FDNA is changing the lives of rare disease patients. For more information, please visit www.fdna.com.
About Blueprint Genetics
Blueprint Genetics is a genetic knowledge company that provides comprehensive genetic testing services and is based in San Francisco, Helsinki and Dubai. Blueprint Genetics provides the most comprehensive clinical-grade NGS offering on the market and is distinguished from others with gapless sequencing and high-quality medical statements. For more information, please visit www.blueprintgenetics.com.
About the Noonan Syndrome Foundation
The Noonan Syndrome Foundation (NSF) is the leading 501(c)(3) non-profit, charitable Noonan syndrome (NS) organization. Their mission is to Support, Educate, and Advocate for those with Noonan Syndrome.
For more information, please visit www.teamnoonan.com.
*All donations are provided directly by the participating sponsor in such month and at its sole responsibility. Amounts may be capped to a maximum in each month, at the participating sponsor’s sole discretion.