“It’s not that it’s nice to collaborate. It’s key.”

That’s what Marshall Summar, Chairman of the Board of Directors for the National Organization for Rare Disorders, said at NIH’s “Collaborating for Successful Research” panel on World Rare Disease Day this year. It’s also the underlying belief that prompted FDNA to announce their Genomics Collaborative the very same day.

“We all want to contribute to finding treatments, cures, or even just making the diagnostic odyssey for one patient a shorter and less arduous one,” said Ilana Jacqueline, Coordinator of the Genomics Collaborative and Manager of Patient Advocacy for FDNA. “By working together and sharing information, patients, clinicians, researchers and businesses can crowdsource their knowledge and resources to maximize their impact on the patients and families who need it most urgently.”

The global initiative to develop new precision medicine approaches builds on partnerships already underway in the research community. Participants have access to FDNA’s Face2Gene suite of technology, which facilitates comprehensive, precise genetic evaluations using artificial intelligence, and are using the tools to integrate phenotypic data into the analysis of human genetics using computational techniques. This process is known as next-generation phenotyping (NGP) and generates data that can improve genomic interpretation to improve patients’ quality and length of life.

Among the participants using NGP is Seattle Children’s Hospital, ranked as one of the nation’s best children’s hospitals 25 years in a row. It is there, that Dr. William Dobyns is contributing clinical data on brain abnormalities in search of their potential correlations to genetic variants.

“FDNA has a track record of developing helpful solutions that make a real impact on patient lives,” said Dobyns. “I am pleased to help continue that tradition.”

FDNA’s Face2Gene technology is being used in the clinical and laboratory workflows of many partnering collaborators, not only learning from analyzed cases but providing insights back to the clinicians. Greenwood Genetic Center’s Hannah Warren, MS, CGC, noted that collaboration with FDNA has resulted in “dozens of high priority, undiagnosed cases that have been flagged by Face2Gene due to their statistically significant facial analysis insights.”

In addition, a partnership with The KBG Foundation improved Face2Gene’s recognition of the KBG Syndrome phenotype and as a result, was able to more than triple the number of diagnosed cases globally.

“When it comes to having the means to make a faster and more accurate diagnosis, physicians should have every advantage at their disposal,” Jacqueline said in the press release.

To that end, FDNA and collaborators are working together to design studies and capture and analyze patient data–securely–using portals and questionnaires. The breadth and depth of data is one of the greatest strengths of the Genomics Collaborative, Jacqueline explained.

“Advocacy groups and patients have incredible amounts of information that can be helpful to researchers and clinicians, but they need a way to be connected. The Genomics Collaborative provides that link,” she added. “The initiative is making it possible to look at each individual patient in a safe and secure way to help understand how doctors can better diagnose and treat patients like them, based on their unique traits.”

The benefits of the patient-research feedback loop can be seen first-hand in the Roya Kabuki program at Boston Children’s Hospital. It is here that Dr. Olaf Bodamer is actively researching the underlying causes for, and patterns within the disease while offering patients access to a variety of specialists at a world-class institution. He is seeking collaboration with the Genomics Collaborative to analyse the Kabuki phenotype to support research being planned with the All Things Kabuki advocacy group.

In addition to an open call for new collaborators, FDNA announced ongoing projects with Centers of Excellence, including University of Manchester and University of Hong Kong. The former’s investigation will include chromatin remodeling disorders and the latter’s work improves Face2Gene’s recognition of disease phenotypes in a range of Asia-Pacific ethnicities.

As partnerships expand and discoveries appear, FDNA hopes earlier recognition and intervention will shorten the diagnostic odyssey for patient around the world.