FDNA is calling all patient advocacy groups, clinicians, labs and life sciences stakeholders to join the Genomics Collaborative, a group of collaborative research efforts focused on using computational techniques and phenotypic data to analyze human genetics.
Those who participate in the collaboration will use FDNA’s artificial intelligence and deep learning technologies to develop new models of precision medicine to increase the accuracy of diagnosis and create more effective treatments, overall improving quality of life for rare disease patients.
“We realized that there are a lot of advocacy groups, a lot of hospitals, a lot of labs, a lot of different research out there that is happening that could benefit from artificial intelligence and deep learning and facial analysis technology,” explained Jeff Daniels, Director of Marketing from the FDNA, in an exclusive interview with Rare Disease Report
. “We came up with the idea to build up a framework that’s separate from our product development to allow our core technology to benefit all of that research.”
FDNA’s next-generation phenotyping (NGP) will be used by collaborators to capture the structure and interpret complex physiological information. This advanced technology will allow researchers to take clinical notes and audio video recordings of phenotypes captured in images to find correlations between patient data and disease types. FDNA’s role in this collaboration is to facilitate studies and ensure researchers capture patient health data by securing patient portals and questionnaires.
Several research institutes have already announced their participation in the Genomics Collaborative. In South Carolina, Greenwood Genetic Center will evaluate the efficacy of NGP in recognizing correlations between certain biomarkers and disease. The research center will analyze patterns of facial features to identify various genetic syndromes.
Lausanna University Hospital in Switzerland will also work with FDNA by analyzing bone structure among disease patients with the hope of being able to diagnose and treat patients early on, while researchers at Seattle Children’s Hospital will analyze brain abnormalities and find correlations among patients.
Additionally, advocacy groups have also began working with the initiative by taking on the role of recruiting patients for studies.
Bridge the Gap is an advocacy group out of Cypress, Texas that is working with patients and the FDNA to study SYNGAP1 gene variants in Fragile X, Angelman, and other disorders. All Things Kabuki, an advocacy group raising awareness of the title syndrome, will support research efforts in identifying the Kabuki syndrome phenotype and gene variants associated with the condition. Both advocacy groups will focus on facial recognition to improve diagnosis of these diseases.
“A lot of these groups are run and driven by the parents and caregivers of children with these different diseases. There’s no one who knows these syndromes and disorders the way that they know it,” Daniels concluded. “They know all the symptoms and nuances and the experiences and the different tests and all that information. They are by far the most expert people to work with in these areas. Their advice is paramount to us to be successful in actually developing new technologies and discovering new patterns that can help other patients in the future.”
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