RARE INSIGHTS |
Making the RARE voice heard
 May 04, 2018 – BOSTON, Mass. – 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 behavioural issues such as anxiety, ADHD, and depression. The child often faces numerous medical issues, significant learning dysfunction, and serious neurodevelopmental challenges and behavioural disturbances.
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. Learn more about The Focus Foundation and how to donate to their cause. About FDNA and Face2Gene FDNA is the developer of Face2Gene, a suite of next-generation phenotyping applications that facilitates comprehensive and precise genetic evaluations. Face2Gene uses facial analysis, deep learning, and artificial intelligence to transform big data into actionable genomic insights to improve and accelerate diagnostics and therapeutics. With the world’s largest network of clinicians, labs, and researchers creating one of the fastest growing and most comprehensive genomic databases, FDNA is changing the lives of patients with genetically caused diseases. For more information, visit www.FDNA.com. Face2Gene is a registered trademark of FDNA INC. About The Focus Foundation
Based out of Davidsonville, MD and founded in 2005 by Dr. Carole Samango-Sprouse and Jackie Bucksbaum, The Focus Foundation has the largest group of 49,XXXXY patients, as well as over 1000 patients followed with 47,XXY or Klinefelter syndrome (KS). The promise of The Focus Foundation is to promote innovative and novel research throughout the world on X & Y chromosomal variations, dyslexia, and developmental dyspraxia. One in every 500 children are born each day with an additive X or Y chromosome(s), but 75% of all cases will remain undiagnosed in their lifetime. The Focus Foundation seeks to spread the awareness and increase the earliest diagnosis possible and targeted treatment to allow each child to reach his or her full potential and receive the optimal treatment.
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