FDNA Launches “Year of Discovery” for Rare Disease Day

Boston-based health and tech start-up calls on patients and clinicians to share their stories to help make new discoveries needed to diagnose and treat rare genetic diseases

BOSTON--()--Today, FDNA announces the launch of its Year of Discovery initiative. Beginning in March, the Year of Discovery initiative will unite clinicians, labs and patients worldwide to make rare disease discoveries, with a special focus on specific rare disease categories each month of 2017. Every patient and doctor who treats rare disease patients is invited to participate.

The initiative is designed to create the world’s largest source of rare disease “big” data that is analyzed by artificial intelligence and made available to clinicians and researchers to more efficiently diagnose rare diseases. Currently, 1 of 10 people in the U.S. suffers from a rare disease.

“We’re just at the very beginning of understanding the genetics behind rare diseases,” says FDNA CEO Dekel Glebman. “By aggregating data from clinicians and laboratories worldwide, the hope is to identify new genes and phenotypes that will lead to the diagnosis, and ultimately treatment, of new syndromes and conditions.”

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.

The analysis will be completed using FDNA's platform, Face2Gene Suite, using facial analysis, deep learning and artificial intelligence to analyze patient facial characteristics, phenotypes and genes to discover links with syndromes and genetic variants.

As a special benefit, partnering patient advocacy organizations will receive donations from partner labs in the amount of $1 for every case added to the analysis each month*. The initiative kicks off in March with Blueprint Genetics sponsoring RASopathies.

“The Year of Discovery is all about gaining new insights and advancing our knowledge about how to diagnose and treat all rare diseases,” says Dekel Gelbman, CEO of FDNA. “Every patient has their own story, journey, symptoms, and genes. With the Face2Gene technology, we can learn from those stories to develop practices to efficiently recognize these syndromes and find solutions faster.”

Participation in the Year of Discovery campaign will work as follows:

For Patients:

1. Download and fill out the patient form at FDNA.com/YearOfDiscovery
2. Submit the form to your doctor for review
3. Doctors will upload the information to FDNA’s Face2Gene platform where it will be analyzed

For Clinicians:

1. Log in or register for a free Face2Gene account at Face2gene.com or through the app on your mobile device
2. Submit your patient photos, diagnoses and phenotypes for analysis

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.

*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.

About Face2Gene and FDNA

Face2Gene is a clinical warehouse platform with 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.


Ashley McIntyre, 1-859-537-2331


Ashley McIntyre, 1-859-537-2331