BOSTON--(BUSINESS WIRE)--FDNA, in collaboration with The Focus Foundation, announces the successful recognition of the facial phenotype of 49,XXXXY (“49ers”) syndrome, a rare genetic disorder that occurs in 1 in 85,000-100,000 male births in all races, ethnic groups, and countries equally throughout the world. The ability to successfully identify the facial phenotype of boys with 49,XXXXY earlier in their development enables more precise and personalized treatments, and leads to improved quality of life. Early diagnosis is the difference between being verbal or non-verbal, social behavior or autistic-like traits, and results in greater potential for independence and community participation.
This cooperative effort between FDNA and The Focus Foundation is part of the Genomics Collaborative®, an FDNA initiative to accelerate breakthroughs in precision medicine using deep learning and artificial intelligence.
Millions of people worldwide are unknowingly living with X & Y Chromosomal Disorders, often called Sex Chromosome Disorders. When untreated, these disorders commonly cause issues such as developmental delays and language-learning disorders, as well as behavioral issues such as anxiety, ADHD, and depression. The child often faces numerous medical issues, significant learning dysfunction, and serious neurodevelopmental challenges and behavioral disturbances.
“Because 49,XXXXY is such a rare disorder, having a tool such as Face2Gene trained in the recognition of the facial phenotype of this syndrome increases awareness and accessibility of an earlier diagnosis,” said Dr. Carole Samango-Sprouse, Executive Director and Chief Science Officer at The Focus Foundation. “With earlier detection of boys with 49,XXXXY, the necessary biological treatment is likely to be available and allows these boys to reach their optimal outcome.”
Through partnerships such as this, FDNA’s next-generation phenotyping (NGP) technologies that capture, structure, and interpret complex physiological information, are used in analyzing patient clinical data and next-generation sequencing (NGS) data. The outcome is real-time discovery of disease biomarkers, advancement of clinical and molecular technologies, and the creation of effective and personal treatments.
“With this breakthrough, patients all over the world affected with this disorder are now able to seek the appropriate treatment, and geneticists will have an improved understanding of how this disorder manifests,” said Dekel Gelbman, CEO of FDNA. “We’re looking forward to continued collaboration with The Focus Foundation to better identify the facial phenotype of this disorder and others.”
With the addition of this successful training, FDNA continues to solidify its position at the forefront of artificial intelligence, the leading force in digital health. FDNA’s growing database of over 10,000 diseases, combined with a global network of clinicians, labs, and researchers, serves to advance precision medicine for hundreds of millions of patients.