AI and facial diagnosis company FDNA sets up genomics coalition

FDNA's Face2Gene app is central to several projects. (FDNA via BusinessWire)

Boston biotech FDNA has teamed up with several research organizations to create a consortium that will try to apply artificial intelligence and machine learning to the development of new medicines—and it's looking for other partners.

The Genomics Collaborative launched with the aim of using computational techniques to analyze genotype and phenotype data and try to tease out physiological relationships that could lead to new drug targets and, it says, “help millions of undiagnosed patients globally”.

FDNA said it is making its AI and "deep learning" technologies—which can analyze (anonymously) data gleaned from diverse sources such as images, clinical notes and voice and video recordings—to organizations signing up to the program.


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So far, the offer has enticed South Carolina’s Greenwood Genetic Center (GGC), Lausanne University Hospital in Switzerland and Seattle Children’s Hospital to start research projects using FDNA’s next-generation phenotyping or NGP platform. Two patient advocacy groups—Bridge the Gap representing patients with Fragile X, Angelman and other related syndromes as well as Kabuki syndrome group All Things Kabuki—have also come on board.

FDNA is arguably best known for its Face2Gene technology, an app-based tool which tries to use "de-identified" facial features as a diagnostic for rare diseases. Clinicians can take a smartphone photo of a patient and reference the image against a database, which presents a list of possible diseases along with the degree of probability for reach one.

Face2Gene is central to the project with GGC, according to the facility’s director Steve Skinner, M.D., The team at Greenwood will use the app and other tools to link facial features to metabolite profiles for a range of genetic syndromes.

Meanwhile, researchers led by Andrea Superti-Furga, M.D., head of genetic medicine at Lausanne, are focusing their efforts on working out the relationships between bone structure and genomic data in patients with skeletal dysplasia disorders. Meanwhile, Seattle’s William Dobyns, M.D., is contributing clinical data on brain abnormalities to help FDNA find correlations with genetic variations.

The Bridge the Gap and All Things Kabuki projects intend to carry out facial analysis studies to improve the diagnosis of patients and hopefully result in early, personalized treatments.

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,” according to the Collaborative’s coordinator Ilana Jacqueline, who is also FDNA’s head of patient advocacy.

 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,” says Jaqueline.

The new project is launching with an open call for additional collaborations with patient advocacy groups, clinicians, labs, life sciences companies and others. FDNA is already working with a number of groups including GeneDx, Blueprint Genetics, Ambry Genetics, Variantyx and Fulgent Genetics, among others.

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