Rare Disease Day 2017 at CENTOGENE
The annual “Rare Disease Day” is celebrated worldwide every February. The motto for this years Rare Disease Day was “'With research, the possibilities are limitless”, taking the opportunity to call on all researchers, universities, students, companies, policymakers and clinicians to do more research and to make them aware of the importance of research for the rare disease community.
“CENTOGENE conducts research and diagnosis for rare diseases worldwide. We aspire to be a company that acts globally but is also tied to regional issues, and this benefit day will help make the public more aware of ‘rare diseases’ which are, often enough, not that rare at all. At the same time, we have a huge social obligation and want to support the self-help organizations for patients and promote their valuable work.” Professor Arndt Rolfs, CEO CENTOGENE.
The European Union views a disease as being ‘rare’ if there are no more than five cases per 10,000 people. Rare diseases can often be fatal or can involve chronic disability. According to EU expert estimates, between 27 and 36 million people suffer from rare diseases, about four million of them in Germany.
Rare Disease Day 2017
Rare Disease Day Rostock, Germany
We organized an interactive event on the occasion of Rare Disease Day 2017 – everyone, independent on age, was invited to be a lab technician, a scientist or a doctor to understand the path from symptoms to final diagnosis. It was an exciting, sometimes surprising, experience for all participants and increased the understanding how important research and clinical diagnostics work is, done every day around the world.
Rare Disease Day Birmingham, UK
The British Paediatric Surveillance in association with Birmingham Children’s Hospital was holding its second Rare Disease Day conference on Monday 27th February 2017 at Birmingham Children’s Hospital, UK. The conference explored the theme ‘From bench to bedside: New treatments for children with rare disease’, focusing upon the development of new treatments in paediatrics, from inception to delivery. It allowed cutting edge scientific data to be presented from world leading clinicians, scientists, policy-makers and patient groups.
Dr. Karen Wessel, Vice Director Genetic Reporting at CENTOGENE AG, was talking about “Genetic diagnostics in the NGS era”.
Rare Disease Day Bucharest and Cluj, Romania
CENTOGENE participated at the Conference "Integrated approach in Breast and colorectal Cancer" in Cluj, Romania. Dr. Anja Wartenberg, Clinical Scientist at CENTOGENE was holding a talk about “Genetic diagnosis of breast cancer using a multigene panel approach”.
Next stop was the "10 years of rare diseases" symposium which was held in National Institute for Health of Mother and Child (INSMC). Dr. Vasilica Plaiasu (INSMC “Alessandrescu-Rusescu”, Department of Clinical Genetics) said: “Since 10 years we are on our way: with "deleted" bad things and memories, but "addition" of good answers, perfect options, hopes and dreams, happiness.
This was our Rare Disease Day 2016
The motto for 2016 was “Patient Voice”, where the central focus is the patient, their needs, and ways to improve day-to-day life for their families and caregivers.
Rare Disease Day Rostock, Germany
CENTOGENE organized a charity event to raise awareness, inform and educate the public. Everyone was encouraged to get their skates polished and blaze out on the track for a good cause. Before the ice was 'burned', the interested public got background information on rare diseases and the challenges that every patient, family member and physician faces in managing a rare disease.
For every kilometer ‘burned’ on the ice, CENTOGENE donated 1€ to patient organizations that take care of patients and their families. This year, we supported the Niemann-Pick support group, Hypophosphatasia Germany e.V., as well as the patient support group for Huntington’s disease.
CENTOGENE’s Rare Disease Day 2016 charity event was a great success in Rostock. Several hundred ice skaters skated a total of 15,381 laps throughout the day.
Rare Disease Day India
CENTOGENE is proud to be associated with Race for 7, an event organized by the Organization of Rare Diseases of India. The awareness run started on the morning of the 28th of February, the official Rare Disease Day, and there was massive participation from people of all walks of life.
On a particular note, there was active participation by many patients and families with rare disorders in the run, which took place in Bangalore's iconic Cubban Park. The event attracted about 2,500 participants and was the first of its kind in India. ORDI & CENTOGENE encourage the Government of India to recognize the immense difficulties faced by patients with rare disorders in diagnosis and treatment. Due to a lack of awareness, even in the medical community, many patients are not being diagnosed early enough for effective treatment to be instituted. The patient support groups are calling for an 'Orphan Drug' act along the lines of similar legislation in the EU & US.
ORDI, founded two years ago in February 2014, addresses many of challenges faced in the management of rare disease in India. lack of awareness amongst physicians and patients about the nature of rare diseases, its diagnosis, management and therapy options is an ongoing, long-lasting process. In the last 2 years ORDI has established an outstanding network of physicians and affected patients, with their families and careers, with an extraordinary effort to raise awareness, support the community in its daily work and, most importantly, educate all involved groups.
CENTOGENE is proud to support ORDI in the organization of the RaceFor7, the charity run that symbolically represents the 7,000 rare diseases with 7,000 people running for 7 kilometers.
Rare Disease Day Lebanon
OpenMinds, founded in Lebanon in 2012 by concerned parents, enables the AUB Medical Center’s Special Kids Clinic (ASKC) to undertake extended neurogenetic and neurodevelopmental disorders research. The affected children and young adults have special needs, and, with an early diagnosis, they have the chance of proper treatment that can improve their lives tremendously. OpenMinds supports the AUBMC Special Kids Clinic in its effort to raise awareness, educate and expand access to clinical services. CENTOGENE is happy to support OpenMinds for their impressive work and for the team that is wholeheartedly dedicated to their work.
Rare Disease Day Peru
Thanks to the support of CENTOGENE, FEPER (the Peruvian Federation of Rare Diseases) organized several events with patient associations, the Minister of Health, the Peruvian Medical Association and the Congress to increase the awareness of rare diseases.
The overall aim was to push for the regulation of the actual rare diseases law. Dr. José Josán, counselor of FEPER, gave several interviews in the media (TV and radio) talking about rare diseases and the need for more care by the government. The special event on the Rare Disease Day 2016 generated huge awareness and provided strong support for the continued activities of FEPER.
Rare Disease Day Ireland
The Genetic and Rare Disorders Organization (GRDO) is a non-governmental organization acting as a national alliance for voluntary groups. It represents the views and concerns of people affected by, or at risk of developing, genetic or other rare disorders. GRDO was founded in 1988 with the first successful lobby for a dedicated national center for medical genetics, established at Our Lady’s Hospital Crumlin in 1994.
CENTOGENE is pleased to support GRDO in their active work of giving member organizations a united voice and strengthening the collaboration between geneticists, specialists and medical practitioners.