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FDNA Launches Genomics Collaborative® with Multiple Research Partners Globally.


FDNA ( today announces the launch of the Genomics Collaborative ( along with multiple medical research collaborations as part of a new global initiative. Collaborators are using FDNA’s artificial intelligence and deep learning technologies to develop new precision medicine approaches for diagnosing and treating disease, and improving patients’ quality of life.

As a part of the announcement, FDNA is holding an open call for collaboration with patient advocacy groups, clinicians, labs and life sciences stakeholders.

Projects in the Genomics Collaborative are focused on using computational techniques that integrate phenotypic data into the analysis of human genetics. This process, known as “next-generation phenotyping,” or NGP, captures, structures and interprets complex physiological information.

This NGP-generated data can then be used to interpret patient genomic data to help recognize current and future health risks, as well as identify therapeutic targets that will maximize quality and length of life.

To accomplish these goals, FDNA has offered collaborators access to its technologies, which use deep learning neural networks to de-identify and analyze patients’ phenotypic information captured in images, clinical notes, and voice and video recordings to discover correlations between patient data and disease.

As part of the Genomics Collaborative launch, multiple collaborators are announcing projects and support.

Greenwood Genetic Center (GGC) in Greenwood, South Carolina has announced plans to evaluate the use of NGP in identifying and recognizing relationships between certain biomarkers and disease. One planned exploration is of the potential to correlate patterns of facial features with metabolite profiles for various genetic syndromes.

"GGC looks forward to developing new approaches to understanding our patients' health through analysis of metabolites and related genomic data," said Dr. Steve Skinner, Director of GGC. "FDNA's next-generation phenotyping technologies will support GGC in this through advanced capture and analysis of the phenotype, and use of that data to understand the patient's genome as it relates to diagnosis and care."

Dr. Andrea Superti-Furga, Head of Genetic Medicine at Lausanne University Hospital in Switzerland, is working with FDNA in the Genomics Collaborative to analyze correlations between bone structure and genomic data in hopes of yielding discoveries that will support earlier recognition and intervention for patients with skeletal dysplasia disorders.

“We are excited to analyze the characteristics of bone shape and growth for patients affected by one of the more than 400 distinct skeletal dysplasia disorders,” said Superti-Furga. “Next-generation phenotyping technologies have potential to help clinicians recognize underlying genetic or developmental problems earlier in life, allowing for more rapid diagnosis, personalized intervention and improved quality of life.”

Dr. William Dobyns at Seattle Children’s Hospital is contributing clinical data on brain abnormalities to help FDNA determine if such data correlates to genetic variations.

“FDNA has a track record of developing helpful solutions that make a real impact on patient lives,” said Dobyns, who is a medical geneticist and a pediatric neurologist. “I am pleased to help continue that tradition through contributing this data to the Genomics Collaborative.”

Bridge the Gap, an advocacy group in Cypress, Texas, is working with patients, clinicians and FDNA to study SYNGAP1 gene variants related to Fragile X, Angelman, and other related syndromes. The project aims to advance the use of facial analysis and other NGP approaches to help clinicians provide diagnosis and early personalized intervention.

The advocacy group All Things Kabuki is announcing a project to increase recognition of the Kabuki syndrome phenotype and its related gene variants. This will include facial analysis studies to enhance the capabilities already known within Face2Gene.

The successful launch of the Genomics Collaborative is credited to numerous partners, including FDNA’s Centers of Excellence in Research, which began projects with FDNA in 2017 and will continue as part of the Genomics Collaborative.

Current progress can be seen at

“The patient is our greatest asset for the future of precision medicine,” said Ilana Jacqueline, Coordinator of the Genomics Collaborative and Manager of Patient Advocacy for FDNA. “The Genomics Collaborative is making it possible to look at patients in a safe, secure way to help understand how doctors can better diagnose and treat patients, based on their unique traits.”

“We’re interested in working with others to develop technologies that easily capture and analyze that data to help health care providers have all the facts when they are evaluating patients,” Jacqueline continued, “When it comes to having the means to make a faster and more accurate diagnosis, physicians should have every advantage.”

FDNA will work with collaborators to design specific studies and securely capture and analyze patient health data that relates to the proposed research hypotheses. Data will be collected using secure portals and patient questionnaires, when applicable. Collaborators can gather and analyze a variety of data relating to the patient’s symptoms, signs, lifestyle, medical history, and genetic data.

Interested advocacy groups, clinicians, patients and researchers can visit for more information.

About the FDNA Genomics Collaborative

The Genomics Collaborative is an FDNA initiative to accelerate breakthrough in precision medicine using deep learning and artificial intelligence (AI).

Collaborators are using FDNA’s next-generation phenotyping (NGP) technologies, to analyze patient clinical data and next-generation sequencing (NGS) data. The result will be real-time discovery of disease biomarkers, advancement of clinical and molecular technologies, and big genomic data that will increase the ability of genetic testing to provide meaningful answers to difficult health questions.

About Face2Gene and FDNA

FDNA is the developer of Face2Gene* ( ), a suite of phenotyping applications that facilitates comprehensive and precise genetic evaluations. FDNA uses artificial intelligence to detect physiological patterns that reveal disease-causing genetic variations. 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 game for precision medicine.

*Face2Gene is a search and reference tool provided for informational purposes and not intended to replace the clinician’s judgment or experience, nor should it be used to diagnose or treat medical conditions.

Contact information

Ilana Jacqueline

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