Blueprint Genetics joins FDNA’s Year of Discovery, uniting clinicians globally with deep learning technology to make rare disease discoveries

Published on February 27, 2017

We are inviting clinicians worldwide to participate in FDNA’s Year of Discovery. Clinicians are invited to submit patient photos, diagnoses, and phenotypes to the HIPAA-compliant Face2Gene CLINIC system for analysis. March is the month for RASopathies. Blueprint will match each RASopathy case uploaded during the month with a $1 donation to related advocacy.
The Face2Gene deep learning technology will de-identify and analyze the shared cases to identify new phenotypes, facial characteristics and genes that are associated with rare diseases—advancing our understanding and hope for the future.


How it works?

  1. Register for a free Face2Gene account at or through the app on your mobile device
  2. Login
  3. Add a new case
  4. Upload the patient photo
  5. Enter the patient information and phenotypic traits
  6. Confirm the patient’s clinical and/or molecular diagnosis

Get a more detailed overview at


In total Blueprint Genetics will be sponsoring three months: March, May and September.

  • March – RASopathies
  • May – Metabolic conditions, including storage disorders
  • September – Craniosynostoses and Craniofacial conditions

Blueprint Genetics is sponsoring a $1 donation to related advocacy groups, up to $2,500 per month. 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. Find the whole discovery schedule and get involved at




Blueprint Genetics & FDNA

Last modified: 09.11.2017


New in ophthalmology panels

Published on March 16, 2018

We are proud to introduce our new improved panels. Since March 1st, a total of 157 panels have been updated and 21 new panels launched. Among the updated panels are ophthalmology genetic diagnostic panels, where we have significant improvement of quality and performance of genetic diagnostic testing for patients with…

Read more

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