Making the RARE voice heard
FDNA Releases New Findings for Sanfilippo Syndrome Resulting from Genomics Collaborative Partnership
Highlighting the continued success of an FDNA initiative accelerating breakthroughs in precision medicine
May 14, 2018 – BOSTON, Mass. – FDNA, in collaboration with Cure Sanfilippo Foundation and Jonah’s Just Begun Foundation, announces the successful recognition of the facial phenotype of patients with Mucopolysaccharidosis IIIB (MPSIIIB), also called Sanfilippo syndrome type-B. This effort is part of the Genomics Collaborative®, an FDNA initiative to accelerate breakthroughs in precision medicine using deep learning and artificial intelligence.
Collaborators are using FDNA’s next-generation phenotyping (NGP) technologies to analyze patient clinical data and next-generation sequencing data. The outcome is real-time discovery of disease biomarkers, advancement of clinical and molecular technologies, and big genomic data. Together, this information will increase the ability of genetic testing to provide meaningful answers to difficult health questions.
“Among the benefits of an early diagnosis for Sanfilippo patients is the ability to apply for ongoing clinical trials, community support, and resources for symptom management, rehab therapies and palliative care,” said Dr. Cara O’Neill, Scientific Director of the Cure Sanfilippo Foundation. “It is imperative that physicians learn to recognize the disease and that families get guidance as early as possible.”
Termed a “paediatric Alzheimer’s,” Sanfilippo syndrome type-B is a rare genetic disorder that may first present with developmental and behavioural symptoms in the toddler years. Roughly 1 in 70,000 newborns are born with the disease, and affected individuals can have severe neurological symptoms, including aggressive behaviour, seizures, deafness, and loss of vision. Numerous pharmaceutical firms such as Shire, Alexion, and BioMarin are investigating therapies to treat the disease, and thanks to the 614 patient-submitted photos, the Genomics Collaborative trained a facial analysis algorithm to aid clinicians globally in recognizing patients with undiagnosed Sanfilippo syndrome type-B.
“We are continuing to see how technology and advocacy can intersect to improve healthcare and are grateful to the families who volunteered case information to help make this study possible,” said Ilana Jacqueline, Coordinator of the Genomics Collaborative. “Their contributions will help advance this technology with the potential to change lives for the better. Awareness of how these diseases present in different ethnicities, ages, and genders can help the medical community intervene earlier and give families options they may not otherwise have had.”
Artificial intelligence is the leading force in digital health, and with the addition of this successful training, FDNA continues to solidify its position at the forefront of it. 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.
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 Cure Sanfilippo Foundation
Cure Sanfilippo Foundation is a 501(c)(3) organisation dedicated to advocating for and funding research directed towards a cure and treatment options for patients with Sanfilippo Syndrome. For more information about Cure Sanfilippo Foundation and Sanfilippo Syndrome, please visit www.CureSFF.org.
About Jonah’s Just Begun
Jonah’s Just Begun Foundation to Cure Sanfilippo Inc. is a 501(c)3. The organisation raises funds and then distributes them to academic researchers focused on Sanfilippo Type C. Their objectives include to first drive the science that will ultimately lead to a cure for Sanfilippo Type C and to raise awareness for all rare diseases. They also empower and encourage others affected by rare diseases to advocate for cures. Learn more atwww.jonahsjustbegun.org.
Rare Revolution Editor