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 GmbH, was talking about “Genetic diagnostics in the NGS era”.
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.