BOSTON--(BUSINESS WIRE)--Today, FDNA (www.FDNA.com) announces its collaboration with two of the most reputable genomics testing labs in the world, GeneDx and Blueprint Genetics. The collaboration will fully integrate FDNA’s analysis into the genetic testing workflow of these labs by enabling clinicians to share phenotypic data with these labs in real time. This marks the first time clinicians will have the ability to send phenotypic data, including facial analysis collected through FDNA’s Face2Gene suite, directly to labs, paving the way for a new precision medicine industry standard.
“Trying to diagnose patients with genetic sequencing is like searching for a pin in a 22,000-needle haystack,” said Dekel Gelbman, CEO of FDNA. “By providing accurate phenotypic and clinical data to the lab directly at the point of genetic interpretation, we are truly realizing the promise of precision medicine. And, with the power of artificial intelligence behind it, clinicians will be pointed toward potential diagnoses that they may have never otherwise considered. GeneDx and Blueprint Genetics are both examples of innovative and renowned labs adopting technology that will lead the way in pinpointing rare disease and promote further medical advancements.”The results of PEDIA, a recent study led by the Berlin Institute of health and Charité University of Medicine, displayed exciting results of this collaboration on the accuracy of genetic sequencing. “We estimate that the addition of phenotypic features [encoded in HPO terms] increases the diagnostic yield to about 60% [from 25% without]. When adding facial analysis, FDNA’s technology, to that process, the diagnostic yield increases to more than 85%,” explained Dr. Peter Krawitz, Principal Investigator of PEDIA.
One in 10 people worldwide suffer from a rare genetic disease, and often the search for answers is a tiresome journey. With hundreds of millions of patients having their phenotypic information buried in paper files and unstructured data, it is challenging to integrate this information to support the variant interpretation process. With the Face2Gene LABS application, all of this information is available immediately to support the analysis of genetic testing to help clinicians pinpoint the disease-causing genetic variants as they draw clearer and more efficient conclusions.
“This is an important collaboration for several reasons,” said Dr. Ben Solomon, Managing Director of GeneDx and practicing clinical geneticist. “It’s a great way to leverage clinical and genetic information and machine learning approaches to find answers for the clinicians, patients and families GeneDx serves. Aside from providing answers, this integration will make the diagnostic testing process easier, smoother and more enjoyable for clinicians.”
“Since 2012, Blueprint Genetics has been developing technological innovations in sequencing and clinical interpretation to improve the quality and performance of rare disease diagnostics,” said Dr. Tero-Pekka Alastalo, PhD and Chief Medical Officer of Blueprint Genetics. “It’s great to see how these innovations are now helping the genetics community and patients suffering from inherited disorders. Combining these technological innovations with our transparent approach to diagnostics and next generation phenotyping tools like Face2Gene represents the next steps forward in molecular genetic diagnostics.”
About FDNA and Face2Gene
FDNA is the developer of Face2Gene, a clinical suite of 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 rare disease patients. For more information, visit www.FDNA.com.
GeneDx is a world leader in genomics with an acknowledged expertise in rare and ultra-rare genetic disorders, as well as one of the broadest menus of sequencing services available among commercial laboratories. GeneDx provides testing to patients and their families in more than 55 countries. GeneDx is a wholly-owned subsidiary of BioReference Laboratories, an OPKO Health, Inc. company. For more information, visit www.genedx.com.
About Blueprint Genetics
Blueprint Genetics is a genetic diagnostic laboratory that provides comprehensive genetics testing services through innovative technologies. This includes DNA sequencing and clinical interpretation in human rare diseases that enable improved quality and performance, faster lead-time and overall cost efficiency. With IBM Watson-powered CLINT technology, Blueprint Genetics’ expert team of geneticists and clinicians provide top-quality clinical interpretation and reporting, changing the standards of molecular diagnostics. For more information, visit www.blueprintgenetics.com.
Jen Sadowski, 617-379-5247
Rare disease charity the AKU Society are hosting a comedy night at the Hot Water Comedy Club on June 29th to fundraise for those who have the rare disease alkaptonuria (AKU).
With a strong presence in Liverpool, the AKU Society was founded by Liverpool man Robert Gregory in 2003. Patients who have AKU regularly visit the Royal Liverpool University Hospital where the National Alkaptonuria Centre is based; to receive treatment for their disease and access to an innovative new drug. The comedy night will raise money to fund an International Patient Workshop, which will support and benefit people with AKU from all over the world.
Robin Marshall, Admin & Events Officer from the AKU Society says:
“The Stand Up For AKU Comedy Night will be a fantastic event with some great local Liverpool comics performing throughout the night. With close ties to Liverpool with the National Alkaptonuria Centre being based at the Royal Liverpool University Hospital, we are very excited to put on an event in the heart of the city.”
“The money raised will go towards putting on a Patient Workshop next year. These workshops are an invaluable way for patients to hear from world leading experts on AKU, and give them a chance to speak to other AKU patients.”
AKU patient Maureen McClure describes Patient Workshops as “a great way to meet people and learn more about AKU”.
Tickets for the event are £12, please visit the event page on the Hot Water Comedy website to purchase: https://www.hotwatercomedy.co.uk/event/491/#event
Cambridge-based healthcare company Sobi has been publicly recognised by Great Place to Work® as one of the UK’s Best Workplaces™ in the Small [20-49 employees] category in their annual ranking. The Best Workplace™ awards, announced last night, are considered the 'gold standard' of employer awards and publicly recognise Sobi as a great employer, brand and business.
Sobi earned the rare achievement that 100% of Sobi employees said that theirs is a ‘great place to work’. The company also received a score of 93% in the Trust Index, a growth of 9% over the previous year. The methodology behind the ranking is one of the most rigorous available, comprising an employee survey and an audit into organisations’ management and HR practices.
Neil Dugdale, UK General Manager at Sobi said: “We are enormously proud to be formally recognised for our commitment to developing our people and introducing numerous initiatives to improve employee performance, work-life balance and well-being. Whilst this success makes us immensely proud we will continue to listen to our employees and find ways to further improve to continue to help many people affected by rare diseases.”
2016 at Sobi saw the introduction of many initiatives including an innovative employee forum managed by, and confidential to, its employees. Actions were taken to improve work-life balance such as a review of travel and nights away from home. In addition, employee well-being was enhanced through mindfulness training, optional weekly yoga in head office and a comprehensive private health check and health action plan.
CEO of Great Place to Work® Tom O’Byrne said: “It is a validation of the strength of Sobi’s leadership and their commitment to creating the kind of culture which attracts and retains the best talent and where people have pride in what they do and want to do their best. The hallmark of a great workplace like Sobi is that their policies and practices are designed around the employee; this employee focus helps attract and retain the talent essential for driving and sustaining competitive performance. It is no coincidence that high trust organisations like Sobi also tend to perform better than their peers.”
Sobi is an international specialty healthcare company dedicated to rare diseases. Sobi’s mission is to develop and deliver innovative therapies and services to improve the lives of patients. The product portfolio is primarily focused on Haemophilia, Inflammation and Genetic diseases. Sobi also markets a portfolio of specialty and rare disease products across Europe, the Middle East, North Africa and Russia for partner companies. Sobi is a pioneer in biotechnology with world-class capabilities in protein biochemistry and biologics manufacturing. In 2016, Sobi had total revenues of SEK 5.2 billion (USD 608 M) and about 760 employees. The share (STO: SOBI) is listed on Nasdaq Stockholm. More information is available at www.sobi.com
About Great Place to Work®
Great Place to Work® UK is a consultancy specialising in workplace culture, helping organisations to create exceptional, high performing workplaces where employees feel trusted and valued. They help employers improve recruitment, retention and productivity by putting employees at the heart of the organisation, analysing what they think and feel and identifying the real issues that need to be addressed. Part of a global organisation, they apply data and insights from over 7,000 organisations across the world to benchmark individual performance and advise employers on how to continuously improve employee engagement and wellbeing and so help build and sustain business performance. They run the Best Workplaces™ awards to enable the organisations they work with celebrate their achievements, build their employer brand and inspire others to take action. They share their learnings through research and publications at national, regional and global level, as well as through conferences and events.
To see the 2017 Best Workplaces™ list and to learn more about how to build a high-trust, high-performing workplace culture, visit www.greatplacetowork.co.uk
FDNA and The Focus Foundation Join Forces to Help Children with Sex Chromosome Disorders Using Facial Analysis
Millions of people worldwide are living with X and Y Chromosomal Disorders, often called Sex Chromosome Disorders, and don’t even know it. These disorders commonly cause issues such as anxiety, ADHD and depression when untreated, with symptoms beginning as early as the first year of life with speech and motor delays. Many of these children may be misdiagnosed as mildly autistic or autistic-like without considering if they have an additive X or Y chromosome. The result of these disorders remaining undiagnosed is that these children become victims of bullying and social isolation, as well as experience academic failure, reading disorders, and needless suffering from numerous health issues throughout their lives.
These neurodevelopmental difficulties can be resolved or significantly reduced if individuals are properly diagnosed and receive targeted biological treatment based on their chromosomal disorder.
Today, The Focus Foundation (http://www.thefocusfoundation.org) announces a collaboration with Boston-based FDNA (http://www.FDNA.com) to accelerate the identification of people affected by X and Y Chromosomal Disorders. By training FDNA’s facial analysis software to pinpoint subtle physical presentations, there will be a greater opportunity for early detection, allowing affected individuals the chance to seek medical interventions that have the potential to be literally life changing.
These syndromes involve an abnormal number or structure of the X and Y chromosomes, and include syndromes such as 47, XXY (Klinefelter syndrome occurring in 1 in 650 live male births), 47,XYY (Jacob's Syndrome occurring in 1 in 1,000 live male births), 47,XXX (Triple X occurring in 1 in 900 live female births) and 45, X (Turner syndrome occurring in 1 in 2,000 live female births). According to The Focus Foundation, more than 500,000 people are believed to have 47, XXY disorders in the United States alone, with an equal distribution across all racial, ethnic and socio-economic groups.
FDNA’s Face2Gene suite of applications will create facial analysis algorithms that will be used by clinicians globally to help end the diagnostic odyssey for undiagnosed patients and foster early detection and much-needed treatments. Clinicians can also become involved by loading their retrospective XY chromosomal disorder cases into Face2Gene CLINIC, which is available to clinicians globally, at no cost, to facilitate comprehensive and precise genetic evaluations.
“By working with The Focus Foundation, clinicians will be able to detect disorders earlier, changing the course of patients’ lives,” said Dekel Gelbman, CEO of FDNA. “Too often, affected children are misdiagnosed as simply having speech or motor delays – this partnership will address this problem.”
Focus Foundation and FDNA Call on Patients to Join the Fight:
For the collaboration, patients are encouraged to work with The Focus Foundation to include their information in the analysis. The patient information will be de-identified, so the privacy of the patients is protected. FDNA will work with doctors affiliated with The Focus Foundation to analyse the data using the artificial intelligence engine inside FDNA’s application suite, Face2Gene, to develop an algorithm to detect facial correlations to these syndromes, as well as to discover other phenotypic and genetic differences that may help clinicians better recognize and diagnose these syndromes earlier.
“This initiative is the fulfilment of a major objective of The Focus Foundation: advocating for an end to the long patient journey undergone by families looking for a diagnosis,” said Dr. Carole Samango-Sprouse, Executive Director and Chief Science Officer of The Focus Foundation. “Our goal is for patients to receive a diagnosis as early as possible so they can access appropriate treatments and timely care.”
Researchers globally are also invited to learn more and use the Face2Gene RESEARCH application, available free of charge at http://www.Face2Gene.com, to make their own discoveries for other diseases as part of FDNA’s Year of Discovery initiative.
For more information, visit http://www.FDNA.com/YearOfDiscovery.
The Focus Foundation is dedicated to helping children and families affected by X and Y Chromosomal Variations. The Focus Foundation believes that through increased awareness, early identification and syndrome-specific treatment, children with these conditions can reach their full potential.
It is the first and only research-based agency exclusively dedicated to identifying and helping children who have developmental dyspraxia and dyslexia: conditions that lead to the identification and care of children who have X and Y Chromosomal Variations. These conditions also lead to language-based disabilities, executive dysfunction and attention-related issues.
It is a 501(c)(3), non-profit, human-service foundation specifically created to address the needs of the one in 500 children with these X and Y Chromosomal Disorders.
The Focus Foundation strives to help each child develop to his or her fullest potential by assisting in the transformation from vulnerable to powerful, from school failure to class leader, from disabled to able. The foundation advocates for, and facilitates, the research needed for providing the best care to affected children nationally and internationally. For more information, please visit http://www.thefocusfoundation.org
About Face2Gene and FDNA
Face2Gene is a suite of phenotyping applications that facilitates comprehensive and precise genetic evaluations. FDNA 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 rare disease patients. For more information, please visit http://www.fdna.com
Would you like to be part of this innovative and exciting project to deliver a special RARE Kids edition of Rare Revolution Magazine?
If you would like to sponsor or support this project and give Liberty and other young rare disease patients, carers and siblings a strong and powerful voice to be heard then we would love to hear from you.
Contact us now to discuss this wonderful project:
An annual rare disease magazine written for children by children!
Here at Rare Revolution we are passionate about providing a platform where rare disease can find a safe voice in a language that everyone can understand, making it truly accessible. To this end we are pushing the boundaries and leading in information innovation and are teaming up with part of the RareTogether initiative developed by British Paediatrics Surveillance Unit (BPSU) and Birmingham Children's Hospital, Rare Disease Centre to create a very special project.
We are opening up our magazine and letting the children take over once a year to produce an accessible, informative and engaging rare disease publication created specifically for children - by children! Our vision is to create a magazine where children can find information relevant to them, tell their stories in a safe environment, ask questions and take ownership of their RARE stories and experiences.
Our target audience is 8 to 18 years old. With a mix of professional and peer content we will enlist the help of a team of RARE Children to work with us on this special publication. From assistant editor, columnist, blogger, journalist, video content and photographer we want this to be a truly kid centric affair. Our aim is to engage and enlist our child team to help us with content that is relevant to them in the voice that matters - THEIRS!
Join the #RareRevolution
Rare Revolution Magazine is a free subscription, quarterly digital magazine. Free subscribe to receive our latest and future issues at www.rarerevolutionmagazine.com
Rare Revolution Editor