RARE INSIGHTS |
Making the RARE voice heard
One of the first genomics software companies to receive internationally-recognised standard Demonstrates company’s emphasis on safety, quality and compliance Cambridge, UK – 28 February 2018 – Congenica, a global provider of clinical genomics interpretation software, announced today that it has received certification in ISO 13485:2016, a quality management system for medical devices that supports comprehensive policies and processes across the entire business. ISO 13485 is a global standard for medical devices and IVD production. In achieving this standard, Congenica has demonstrated that it meets the increasing needs of international healthcare providers, clinicians and patients. It also provides the standardised and stringently regulated quality-controlled products required by the emerging field of precision medicine, and supports the Company’s ongoing expansion in Europe, the US and Asia. Congenica’s recently appointed CEO Dr David Atkins said: “As we expand our international commercial operations and continue product development of our gold-standard Sapientia™ clinical genomics software platform, conforming to the ISO 13485 standard is a key step in preparing to access global markets. This will help us achieve our goal to accelerate accurate genomics-based clinical support, which will ultimately benefit patients and their care-givers worldwide.” Congenica’s Quality Assurance and Regulatory Affairs Manager, Dr Heather Carré-Skinner said: “Certification to ISO 13485:2016 shows Congenica’s commitment to customer needs and patient safety, as well as allowing systems to be in place that will help us successfully navigate the increasing demands from clinical best practice and regulations. As Congenica is already certified to ISO 27001:2013, we are in a leading position that combines high standards in design and development with rigorous data and information security practices. ISO 13485 registration required a four day final audit that involved a thorough review of policies and processes around Congenica’s business, including design and development, Customer support, Sales and HR. Congenica’s Sapientia clinical genomics platform is currently being used in Genomics England’s ground-breaking 100K Genomes Project, and also supports China’s national 100K Wellness project and Portugal’s In2Genome Project. Dr Atkins continued: “The ISO 13485 certification for Congenica further strengthens our credibility with existing and potential customers and we look forward to expanding our international collaborations and partnerships in 2018.” About Congenica Congenica, a leading provider of genomic analysis software and services, has developed the gold-standard clinical genomics analysis platform Sapientia™. Based in Cambridge, UK, and born out of pioneering research from the Sanger Institute, Congenica aims to revolutionize personalized patient care through accurate diagnoses, curation of evolving knowledge bases and support in clinical trials and drug development. Within a single secured platform, Congenica’s world-class team of experts have gathered all the resources necessary to enable clinicians and scientists to make informed medical decisions. Validated by Genomics England for the 100K Genomes project, Congenica is empowering doctors around the world to diagnose the un-diagnosable. For more information:
Dr Priya Kalia / Tim Watson / Sue Charles Instinctif Partners Telephone: +44 20 7866 7861 Email: congenica@instinctif.com
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Duchenne is a rare and fatal genetic disorder that occurs primarily in boys. It results in progressive muscle degeneration and weakness from early childhood leading to premature death in the mid-twenties due to heart and respiratory failure.1,2 Since Guillaume Duchenne’s observations in 1868, many research advances have been made and innovative treatments are now available or are in research and development phases. Today, young boys with Duchenne live longer than those observed by Guillaume Duchenne, thanks to these advances. However, there is still a significant opportunity to improve the medical management of boys with Duchenne, by developing further therapies and addressing the age at which they are diagnosed. “Signs and symptoms of Duchenne typically appear in early childhood. Earlier diagnosis leads to earlier treatment and care which may enable boys to live a longer and better quality of life,” said Dr Anne-Marie Childs, Consultant Paediatric Neurologist from Leeds General Infirmary. “Whilst every infant is different, early signs and symptoms of Duchenne may include delayed motor milestones and poor speech development, frequent falls and calf hypertrophy. This should prompt a simple blood test to measure the muscle enzyme, called creatine kinase (CK), levels which would then guide genetic testing. Early diagnosis of Duchenne is important so that patients and families receive the best care and support available. Simple interventions such as physiotherapy, cardiac assessment, orthopaedic management and pulmonary management may extend a patient’s life expectancy and enhance their quality of life.3, 4 “If it is thought your child may have Duchenne then a simple blood test to determine the levels of CK is one way of initially screening for the condition. The CK test can be carried out by your GP or a hospital physician. Following any subsequent diagnosis, we would urge families to ensure they enrol on the DMD registry, an important resource used in recruiting for clinical trials." said Mark Silverman, a Duchenne parent and Action Duchenne trustee. Diagnosing Duchenne signs and symptoms earlier through improved education, referral and management will make a tremendous difference to those boys affected and their families “Diagnosing Duchenne signs and symptoms earlier through improved education, referral and management will make a tremendous difference to those boys affected and their families,” said Janis Clayton, Vice-President and General Manager UK and Ireland, PTC Therapeutics. Not only have there been significant research advances over the past decade, there have also been important technical advances to support patients and their families following a diagnosis of Duchenne. “The Duchenne and Me mobile app, available now, is for patients and families affected by Duchenne in the UK,” said Mark Silverman. “This app aims to make it easier for patients and parents to help keep track of aspects of their health, from the everyday routine of medication and medical appointment reminders, to having medical contact information to hand when dealing with medical emergencies.” About Rare Disease Day Launched by EURORDIS and its Council of National Alliances in 2008, Rare Disease Day has and continues to collaborate with organisations globally in order to put on events, create media coverage, and ultimately raise awareness amongst the general public and policy-makers about rare diseases and their impact on patients’ lives. PTC Therapeutics recognizes and supports Rare Disease Day. For more information, please visit: https://www.rarediseaseday.org About Duchenne Muscular Dystrophy Primarily affecting males, Duchenne muscular dystrophy (DMD or Duchenne) is a rare and fatal genetic disorder that results in progressive muscle weakness from early childhood and leads to premature death in the mid-twenties due to heart and respiratory failure. It is a progressive muscle disorder caused by the lack of functional dystrophin protein. Dystrophin is critical to the structural stability of all muscles, including skeletal, diaphragm, and heart muscles. Patients with DMD can lose the ability to walk as early as age ten, followed by loss of the use of their arms. DMD patients subsequently experience life-threatening lung complications, requiring the need for ventilation support, and heart complications in their late teens and twenties. More information on the signs and symptoms of DMD can be found at: www.duchenneandyou.co.uk About Duchenne and Me Duchenne and Me is a mobile app, available now, that has been developed and funded by PTC Therapeutics as part of its commitment to supporting patients and their families affected by Duchenne. Duchenne and Me was developed to help patients and their families with the daily challenge of living with Duchenne, and specifically to help keep track of aspects of their health, from the everyday routine of medication and medical appointment reminders, to having medical contact information to hand when dealing with medical emergencies. Key features include a dashboard for at-a-glance data input on aspects of the patient’s health and wellness; a function to help families manage medical appointments; medication information, such as medications being taken; emergency care considerations, which includes emergency contacts for families to share with doctors and useful information; and a help section with chatbot answers to common questions about Duchenne. Duchenne and Me is available in the UK for free download on the Android and Apple app stores. Available now: iOS: https://itunes.apple.com/gb/app/duchenne-and-me/id1285029104?mt=8 Google Play: https://play.google.com/store/apps/details?id=co.cognite.koch.karl.dandme About PTC Therapeutics, Inc. PTC is a global biopharmaceutical company focused on the discovery, development, and commercialization of novel medicines using our expertise in RNA biology. PTC's internally discovered pipeline addresses multiple therapeutic areas, including rare disorders and oncology. PTC has discovered all of its compounds currently under development using its proprietary technologies. Since its founding nearly 20 years ago, PTC's mission has focused on developing treatments to fundamentally change the lives of patients living with rare genetic disorders. The company was founded in 1998 and is headquartered in South Plainfield, New Jersey. For More Information:
Imaan Petra (Havas Just::) Email: Imaan.petra@havas.com Tel: 0208 877 8435 References: 1. NHS Choices. Muscular Dystrophy – Duchenne. Link: https://www.nhs.uk/conditions/muscular-dystrophy/types/#duchenne-muscular-dystrophy (Last accessed February 2018). 2. Parent Project Muscular Dystrophy: Signs of Duchenne. Link: http://www.parentprojectmd.org/site/PageServer?pagename=Understand_about_signs (Last accessed February 2018) 3. Birnkrant DJ, et al. Lancet Neurology. Published online 23 January 2018. Published online ahead of print. DOI: https://doi.org/10.1016/S1474-4422(18)30024-3 4. McDonald, Craig MVishwanathan, Vijay et al. The Lancet , Volume 391 , Issue 10119 , 451 - 461 Canadian and French Start-ups announce genomics partnership to better diagnose rare disease28/2/2018
February 28th, 2018: Paris, France & Toronto, Canada Gene42 Inc., a Toronto company that develops software for precision medicine, and SeqOne, a French life science company providing genomic data analysis solutions for healthcare, announced their partnership to accelerate rare disease diagnosis. There are roughly 7,000 rare diseases, with patients waiting on average 5–7 years before they receive an accurate diagnosis. Yet over 80% of rare diseases have genetic causes, and next generation sequencing (NGS) provides hope for a speedy and accurate diagnosis. NGS has the potential to provide substantially more information on the genome which improves a doctor’s capacity to diagnose a patient but can be time-consuming and costly to interpret. Gene42 and SeqOne are working together to address this issue. Capturing the doctor’s medical observations in a standardized way makes it much easier to interpret the patient’s genome, Dr. Orion Buske, CEO of Gene42. Gene42’s flagship product, PhenoTips®, helps doctors quickly record patient details in a standardized format, and SeqOne’s flexible genomic analysis platform uses machine learning to predict which gene is most likely responsible for the patient’s disease in a matter of minutes. In a recent pilot study held in France on a cohort of patients suffering from rare diseases, preliminary results indicate that the combined use of PhenoTips and SeqOne significantly improved the proportion of confirmed diagnoses (the diagnostic yield) when compared to traditional methods, while substantially reducing the time required to interpret each patient. The companies are now embarking on a more detailed study to confirm these initial findings across multiple pathologies.
As we mark Rare Disease Day, Gene42 and SeqOne recognize the need to accelerate rare disease diagnosis. By combining their efforts and making their software interoperable, it is hoped that this partnership will reduce the time it takes clinicians and researchers to analyze results, decrease healthcare costs, and support the growing adoption of genomic medicine. About Gene42 Inc. Founded in 2014, Gene42 develops software for the investigation and treatment of people with genetic based disease. The Toronto-based team of computer scientists, software engineers, and medical experts develops specialized software to solve today's challenges and discover tomorrow's opportunities in medical genetics. Its flagship product, PhenoTips®, is used around the world by leading hospitals and research institutions for deep clinical phenotyping and pedigree drawing. About SeqOne SeqOne is a life science startup based in Montpellier that seeks to bring genomic medicine into the mainstream by simplifying the analysis of genomic data by offering improved software that manages the entire process of analysis from raw data to final report. SeqOne was founded by two childhood friends; Nicolas Philippe, a PhD in Bioinformatics and Guillaume Buwalda an expert in highly secure high throughput cloud-based computer systems. The project was conceived as part of a public research project and was incubated by the AxLR SATT before being spun out into a separate company. SeqOne enjoys the support of AxLR SATT, the BIC, BPI LRI and the Occitanie region and other regional and national players. About Rare Disease Day® Rare Disease Day takes place on the last day of February each year. The objective of this day is to raise awareness about the impact rare diseases have on patients and families. The campaign primarily focuses on the general public but also aims to raise awareness amongst policy makers, government partners, industry stakeholders, researchers and clinicians. The campaign started as a European event and now has over 80 countries participating worldwide. For more information, please visit: www.rarediseaseday.org. Media Contacts:
By Ilana Jacqueline for Rare Revolution Magazine  What if the signs and symptoms of a rare disease were as easy to identify as they are for the common cold?
With all the knowledge being generated by doctors, researchers, patients, and their dedicated advocacy groups—we are entering an era where this is possible. That is the mission behind the newly launched Genomics Collaborative—to accelerate the possibility of an early and accurate diagnosis by advancing of technologies through collaboration with patient and medical communities. The new program was launched by FDNA with multiple collaborators. FDNA is the developer of Face2Gene (www.Face2gene.com), a cloud-based application that uses next-generation phenotyping technologies—such as facial analysis—to help doctors as they evaluate patients. FDNA uses artificial intelligence to detect physiological patterns that reveal disease-causing genetic variations. The free tool is available to health care providers and is already being used in exam rooms in 130 countries. The Genomics Collaborative (www.GenomicsCollaborative.com) seeks to increase the knowledgebase that doctors have to understand these complex diseases. Collaborators are using FDNA’s artificial intelligence and deep learning technologies to develop new precision medicine approaches for diagnosing and treating disease, and improving patients’ quality of life. As a part of the announcement, FDNA is holding an open call for collaboration with patient advocacy groups, clinicians, labs and life sciences stakeholders. Many projects were announced during the 2018 World Rare Diseases Day, including projects with major medical institutions like Seattle Children’s Hospital in Washington, Greenwood Genetics Center in South Carolina, and Lausanne University Hospital in Switzerland. These collaborators are all working with FDNA to research technologies that can provide health insights through analysis of phenotypes—such as metabolites, brain abnormalities, and bone structure. Multiple patient advocacy groups have also announced projects, including All Things Kabuki, working to improve facial analysis and understanding of Kabuki syndrome, as well as Bridge the Gap, working on Fragile X, Angelman syndrome, Rett syndrome, and Phelan-McDermid syndrome. Projects in the Genomics Collaborative are focused on using computational techniques that integrate phenotypic data—such as facial or voice data—into the analysis of human health. This process, known as “next- generation phenotyping,” or NGP, captures, structures and interprets complex physiological information. This NGP-generated data can then be used to interpret patient genomic data to help recognize current and future health risks, as well as identify therapeutic targets that will maximize quality and length of life. To accomplish these goals, FDNA has offered collaborators access to its technologies which use deep learning neural networks to de-identify and analyze patients’ phenotypic information captured in images, clinical notes, and voice and video recordings to discover correlations between patient data and disease. Collaborators will be able to set up secure online patient portals where researchers can ask targeted patient populations to share phenotypic and genomic data—including facial photos and other biometrics that will be de-identified and analyzed. Collaborators will have the opportunity to create specific studies and securely capture and analyze patient health data. FDNA will work with collaborators to design specific studies and securely capture and analyze patient health data that relates to the proposed research hypotheses. Data will be collected using secure portals and patient questionnaires, when applicable. Collaborators can gather and analyze a variety of data relating to the patient’s symptoms, signs, lifestyle, medical history, and genetic data. Interested advocacy groups, clinicians, patients and researchers can visit www.genomicscollaborative.com for more information.  On Rare Disease Day 2018 Students4RareDiseases is becoming Medics4RareDiseases. What may seem like a small word change signifies a big step for our organisation. S4RD was established by 5 medical students from Barts and The London in 2013 with the help of the LSD Collaborative Group and the Genzyme PALs Award. In the subsequent four years we have grown a brand and developed relationships with medical students, clinicians, HCPs, patient groups, research charities, and industry. It’s been hugely exciting to see people respond so positively to our work and our aim. What’s changing? M4RD is the next incarnation of S4RD
What’s staying the same? We continue to support medical students in the UK and abroad with their efforts to spread the word about rare diseases. Next year we will be holding our symposium at The Royal Society of Medicine, London. However this year we’re having a pause while we prioritise the rebrand, restructure and helping a brilliant bunch of medical students at The University of Birmingham to hold a big event. More information about Patient Perspective on Rare Diseases on 1st March 2018 can be found on our website. Why “medics”? We found doctors in training felt that the word “students” excluded them from our events. We wanted to change this because we would like all clinicians to understand the unique and difficult circumstances faced by rare patients navigating the health care world. Although we focus is towards doctors and future doctors, we do like to hear from and work with ALL healthcare professionals. Our aim remains the same: We want to drive an attitude change towards rare diseases amongst medical students and doctors in training in order to improve the patient journey www.M4RD.org
https://www.facebook.com/medicss4rarediseases/ @M4RareDiseases  Tick tock -tick tock - just 9 days to go!It is just 9 days to go until the FIRST EVER Rare Revolution Youth Edition launches and we are all super excited and busy getting ready for our special launch party and rare youth event on 3rd March, which will celebrate the youth contribution to rare disease!
This youth edition has been created by a hand selected team of children and young people affected by rare disease, under the guidance of our core team and supporting professionals. We know you, like us will be utterly blown away by what they amazing youths have achieved. So while we hold our breaths and wait for launch day, please go to the following link to make sure you are first inline to receive your digital copy come launch day. FREE Subscribe HERE
On the 5th July the NHS is turning 70 and to celebrate they are celebrating their greatest asset, their staff. Lobke is an NHS play specialist. She cares for children who have cancer, like William who is six. People say she’s an angel. She says she’s just doing her job. 😇 💙 #NHS70
As World Encephalitis Day approaches on February 22nd, memories of a very difficult time come back to me. In the year 1999 I had encephalitis and was hospitalised for four weeks. Once home, I was booked to visit my neurologist every three to six months - his job was done – my life had been saved. But… what now? My family and friends searched for further information and came up empty-handed and with their questions unanswered.
So many of these questions were not worth booking yet another appointment with our family doctor… but they were very important questions to which we needed answers! Harry Houdini once said, “My chief task has been to conquer fear.” Post encephalitis, one may struggle with physical, emotional, behavioural, and social deficits. The fear which touches survivors and their families is a fear of the unknown. It may take days, weeks, or even months for issues to develop and become apparent. Encephalitis mentors are people who have already experienced that fear. People who have already walked the difficult pathway others have newly arrived upon. Survivors and caregivers have a million questions, and no answers. They benefit when they can ask questions and learn more from people further down the road in this experience. The patient and her/his family benefit from learning more about the issue at hand and how to deal with the problems which can arise. The big issues AND the smaller issues both feel huge for the person struggling. The mentor can guide by sharing skills, experience and knowledge. In discussion with an encephalitis mentor the family learns more about the issues the patient may be struggling with, and how they can help. Since 2008 Encephalitis Global’s Discussion Forum has welcomed members from more than 95 countries. To date, that’s more than 6,900 survivors and caregivers sharing their kindness, their experience and their knowledge as they help each other every day. Here is what the Forum has meant to those who have come to us looking for answers: My son survived Herpes Encephalitis in 1994 at the age of 17 months. Encephalitis Global has opened many doors for us with regard to therapy, life goals, and friendship. Wendy is a wonderful teacher and mentor to all who survive E. Thank you for the knowledge we have gained through this wonderful organisation Medical science has lots to learn from our shared experiences and adaptive and self-rehabilitation methods. Encephalitis Global has opened a door into the post-E world. Encephalitis Global has been a lighthouse in the storm for me. I can't bear to think how I would cope with my situation without the support of the Encephalitis Global community, where I find support, encouragement, links to information, and perhaps most importantly, a place where I can connect with people who understand the far-reaching impacts of encephalitis/encephalopathy, and who stand ready to reach out with a helping hand to those who struggle with these diseases, whether patients or caregivers The ability for encephalitis survivors and caregivers to interact truly does help conquer their fear. Our Encephalitis Global Inspire Forum is the largest forum in the world discussing encephalitis and autoimmune encephalitis on a daily basis. As World Encephalitis Day approaches, we encourage all members of our Forum to be proud to be helping encephalitis survivors and caregivers from around the world.
 This year Dravet Syndrome UK will be celebrating 10 years of providing hope for families with life-limiting epilepsy and to mark this momentous occasion will be holding a fundraising gala dinner on Thursday the 15th March at The Ned Hotel and Club in the heart of the London.
They also support and nurture a thriving fundraising community and hold an annual landmark fundraising event - in 2017 a team of nearly 80 dedicated people scaled Ben Nevis, and with a London to Paris bike ride now planned for 2018 there are plenty of ways you can get involved. Since 2011 Dravet Syndrome Uk have provided almost £230,000 in research project grant funding focused on improved diagnosis and treatment of Dravet syndrome.
How can you help? There are a number of sponsorship opportunities available for the gala auction, with all proceeds going directly to the continued good work of the charity. To find out more about sponsorship opportunities contact Anna Brennan at anna.b@dravet.org.uk or on 07874866937. 
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