FDNA Launches Global Genomics Collaborative for Rare Genetic Diseases

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by Alice Melão |

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Neuren Pharmaceuticals

Boston-based FDNA has launched a new global initiative to promote medical research collaborations and to develop new precision approaches for diagnosing and treating disease, including Angelman syndrome, the company said.

The initiative, called Genomics Collaborative, uses computer analysis and artificial intelligence technologies to integrate genetic information with the physical and biological characteristics of a particular disease. This process is known as next-generation phenotyping, or NGP. It can be used to improve knowledge about disease genetics and to identify risk factors and potential therapeutic targets.

According to FDNA, “the Genomics Collaborative is fundamentally driven by the fact that we know that once you understand a disease, you can change the patient’s outcome for the better.”

FDNA allows collaborators to access its advanced computer technologies to analyze different sources of information, including clinical records, images, and voice and video recordings. The integrative strategy was designed to promote the discovery of new correlations between patient data and disease.

The company will work directly with collaborators to design specific studies to ensure accurate analysis of patient health data.

“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,” Ilana Jacqueline, coordinator of the genomics collaborative and manager of patient advocacy at FDNA, said in a press release.

“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 added.

Several institutions already have joined the initiative including Bridge the Gap, an advocacy group in Cypress, Texas, that is working with patients, clinicians, and FDNA to evaluate SYNGAP1 gene variants related to autism spectrum disorders such as Fragile X and Angelman syndrome. The project aims to use facial analysis and other NGP approaches to help clinicians with early diagnosis and personalized intervention.

Greenwood Genetic Center in Greenwood, South Carolina, plans to use NGP to identify and recognize potential correlations between specific biomarkers and patterns of facial features associated with various genetic syndromes.

Those interested in learning more can visit www.genomicscollaborative.com.