“A rare day to put rare diseases in the spotlight!” “With research possibilities are limitless”

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“A rare day to put rare diseases in the spotlight!” “With research possibilities are limitless”

Journal Title: Journal of Rare Cardiovascular Diseases - Year 2017, Vol 3, Issue 2

Abstract

Just few days ago, on 28th February, the tenth edition of Rare Disease Day was launched by EURORDIS and its Council for National Alliances to attract thousands people all over the world to come together to advocate for more research on rare diseases. Rare Disease Day goes globally, where all stakeholders, including patients and families, patient organizations, politicians, carers, medical professionals, researchers and industry come together to raise awareness of rare diseases through thousands of events all over the world. Among many topics, patients’ involvement in research is getting momentum. Thanks to patients’ actions, such as advocacy for research, funding research, governance of research, and last but not least participate in research, actually resulted in more research. It has been numerously underlined that research in rare diseases is a key factor as it brings hope to the millions of people living with rare disease across the world and their families. There are numerous types of research and frameworks that are important to rare disease community, including: infrastructures such as registries (databases of patients with their clinical and genetic information) and biobanks (catalogues of human biological samples), basic research to identify the cause and mechanisms of rare diseases, translational research, which focuses on using the conclusions of basic research to develop therapeutics for patients living with a rare disease, clinical research, when medicinal products are tested in humans through clinical trials, and finally research into quality of life, working conditions, social needs, integration at school, as well as multidisciplinary education of social service providers. Hopefully, all those noble initiatives will move the field forward for the good of all patients and their families. In this first issue of the Journal in 2017, we start with an interesting Review on cardiac sarcoidosis. The Original paper comes from the study group involving several centers, specializing in the treatment of pulmonary hypertension (PH) and is about non-invasive assessment of hemodynamics in PH. Then, as usual, we have several clinical cases of rare cardiovascular diseases with informative discussions and overview of the problems. Finally, there is a report from the annual meeting of the European Association of Cardiovascular Imaging (EACVI) – EuroEcho.

Authors and Affiliations

Piotr Podolec

Keywords

18 years old patient with Bland White Garland syndrome after non‑ST segment elevation myocardial infarction (RCD code: I-1C.3)

Bland – White – Garland syndrome (or ALCAPA) is a rare coronary anomaly including anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA). It occurs in 0,2-0,5% of all congenital cardiac malformat...

Stress in adults with congenital heart disease – preliminary results on anxiety, life events, coping and socioeconomic factors (RCD code: IV)

We performed pilot analysis of the anxiety level, frequency of life events and their interactions among adults with congenital heart disease (CHD), and evaluated their coping strategies and socioeconomic functioning. In...

EP ID EP248056
DOI 10.20418/jrcd.vol3no2.284
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