Rare Daily Staff

FDNA said its collaboration with The Focus Foundation has successfully developed recognition of the facial phenotype of 49,XXXXY syndrome, also known as 49ers syndrome, a rare genetic disorder with distinctive facial features.

49ers syndrome occurs in 1 in 85,000-100,000 male births in all races, ethnic groups, and countries equally throughout the world. Its symptoms vary, but may include intellectual disability, low muscle tone; hypogonadism; infertility; delayed growth; and a variety of birth defects that may affect the heart, bones, brain and/or kidneys, according to the National Institutes of Health.

FDNA said the ability to successfully identify the facial phenotype of boys with 49ers syndrome earlier in their development enables more precise and personalized treatments and leads to improved quality of life. The company said early diagnosis can mean the difference between being verbal or non-verbal, social behavior or autistic-like traits, and results in greater potential for independence and community participation.

The collaboration with The Focus Foundation is part of the FDNA’s Genomics Collaborative initiative to accelerate breakthroughs in precision medicine using deep learning and artificial intelligence.

“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 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 technologies that capture, structure, and interpret complex physiological information, are used in analyzing patient clinical data and next-generation sequencing 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.”

May 4, 2018