On 26th of March, 2019, the National Alliance of People with Rare Diseases, together with patient organizations, are organizing a conference, dedicated to European Reference Networks’ (ERN) integrity into the national health systems with the participation of EURORDIS in Sofia. ERN is really important for sharing an experience and good practices in the field of rare diseases.
For the Rare Disease Day 2019, in Plovdiv, the National Alliance of People with Rare Diseases and the Association of Hereditary Angioedema Patients, with the support of Plovdiv Municipality, The Professional School of Food Technology, trio “Persenk”, patient organizations’ representatives, members of their families and friends, will celebrate in front of the Plovdiv Municipality on 28th of February, 2019 (Thursday). At 13:00 sharp, as a sign of solidarity for the million affected by a rare disease people all over the world, the attendees will participate in the mass raising of hands which will be conducted simultaneously in whole Europe, and in the sky there will be released colorful balloons as a symbol of the thousands rare diseases.
On 30th-1st of September 2018 in Grand Hotel Plovdiv was held the 9th National Conference for Rare Diseases. The newest achievements in the field of diagnostics, treatment, rehabilitation and social care for people with rare oncologic and hematologic disorders. Specialists in the field of oncology and hematology shared their experience and talked about new trends. Book of presentations and posters can be downloaded here.
Dr Edmund Jessop is the recipient of the EURORDIS Policy Maker Award in recognition of his outstanding work and support of the rare disease community through his dedication to patient advocacy and tackling rare diseases as a public health issue as public health lead of the National Commissioning Group and author of the reform on highly specialised care in the UK @NHSEngland
Register to attend the Black Pearl Awards Ceremony on 12 February in Brussels: https://blackpearl.
The 7th RARE DISEASES SUMMER SCHOOL 2019 is organized by radiz – Rare Disease Initiative Zurich of the University of Zurich. It will take place in the Kartause Ittingen, Warth (Canton Thurgau), from July 10th to July 12th 2019. A wide variety of subjects in the arena of rare diseases will be covered. There will be lectures by national and international rare disease experts, workshops and poster presentations by participants. Subjects include drug development, clinical trials, regulatory aspects, patient registries, ethical considerations, as well as what rare diseases may tell us about common diseases. The application deadline is April 2nd 2019. More information you can find here.
Louisiana State University Health Sciences Center in New Orleans is conducting a Natural History Study of the Usher syndrome community in Louisiana to assist in the development of treatments and to raise awareness of the syndrome. More information about the study you can find here: US in LA Natural History Advertisement Flyer
In Europe, approximately 30 million people live with a rare disease. Prompt diagnosis of rare diseases is crucial for reducing morbidity and mortality, to estimate the risk of recurrence, and to prevent further complications. Diagnostic delay or undiagnosed conditions, estimated to affect around 10%–30% of people with rare diseases, can have serious physical and psychological effects. People with rare diseases and their families often experience loneliness, tiredness, discouragement etc. Health professionals, for their part, can also experience frustration, delusion, distress.
The National Centre for Rare Diseases (NCRD), part of the Italian National Institute of Health (Rome, Italy), acts as the leading technical and scientific body of the Italian Ministry of Health and the National Health System. Since 2008, the NCRD organises a national artistic competition, The Flight of Pegasus, dedicated to rare diseases. The aim of the initiative is to raise public awareness about rare diseases and empower communities through dissemination of scientific knowledge. The competition offers a variety of expressive formats, including narrative stories, poetry, drawing, painting, sculpture, photography, digital art, music composition, and music interpretation. The deadline is until 6th of January, 2019. More information about the competition you can find here.
Acromegaly is a rare disease, caused largely by a growth hormone (GH) pituitary adenoma. Incidence is higher than previously thought. Due to increased morbidity and mortality, if not appropriately treated, early diagnosis efforts are essential. Screening is recommended for all patients with clinical features of GH excess. There is increased knowledge that classical diagnostic criteria no longer apply to all, and some patients can have GH excess with normal GH response to glucose. Treatment is multifactorial and personalised therapy is advised. For more information, please click here.