Rare diseases

TOPIC

Rare diseases

Rare diseases

Rare diseases (RDs) are a conspicuous and heterogeneous group of human diseases (around 7,000-8,000) defined as such because of their low prevalence in the population (affecting no more than 5 per 10,000 inhabitants in the European Union). Taken together they constitute a major health problem and involve millions of people around the world.

About 80% of cases are of genetic origin, the remaining 20% are multifactorial diseases are caused not only by an individual susceptibility but also by other factors (e.g. environmental factors, food factors, ect.) or by the interaction between genetic and environmental causes. RDs age of onset strongly varies from prenatal phase to birth onset or from childhood to adulthood.

Despite their number and heterogeneity, RDs are united by the difficulty for the patient in obtaining an appropriate and rapid diagnosis, the rare availability of decisive treatments, the often-chronic disabling disease course, and family and social burden.

Despite numerous advances, scientific research needs to be further encouraged to understand the mechanisms underlying rare diseases and develop new diagnostic and therapeutic approaches.

In Italy, since 2001, the following initiatives have been established:

  • Italian Network on Rare Diseases dedicated to the prevention, surveillance, diagnosis and therapy of rare diseases
  • National register of rare diseases at the Istituto Superiore di Sanità (ISS, the National Institute of Health in Italy)
  • List of rare diseases for which the right to exemption from participation in the cost of health care services included in the essential levels of assistance is recognized - LEA (Ministerial Decree 279/2001 and Prime Ministerial Decree of 12 January 2017)

Further information malattierare.gov.it

Back International Summer School on Rare Disease Registries and FAIRification of Data September 28 - October 2, 2020, Istituto Superiore di Sanità, Rome, Italy

The “International Summer School on Rare Disease Registries and FAIRification of Data” is a part of a series of training activities proposed by the European Joint Programme on Rare Diseases (EJP RD). EJP RD is a European Commission funded project (grant agreement No 825575, 2019 - 2023) with the goal to create a comprehensive, sustainable ecosystem allowing a virtuous circle between research, care and medical innovation.

This edition of the training course organized by Istituto Superiore di Sanità (ISS) in close collaboration with EJP-RD partners will be held ONLINE, due to the force majuere situation associated with the COVID-19 pandemic.

Course director: Dr. Domenica Taruscio, head of the National Centre for Rare Diseases (CNMR) ISS, Rome
Course coordinator: Dr. Claudio Carta CNMR ISS, Rome

This course is composed of two training modules:

  • First three days module (28 – 30 September 2020), participants will learn (a) what resources are needed for the establishment/maintenance of a high quality registry (b) the features of successful strategies to ensure (i) long-time sustainability of the registry, (ii) quality, (iii) legal and ethical issues in compliance with the EU General Data Protection Regulation
  • Second two days module (1 – 2 October 2020) “FAIRification of data”, participants will deepen their knowledge on the single steps of the FAIRification of data and will discover the potential of FAIR registries. In this part a time slot will be allocated to discuss FAIR data management and FAIR project planning

Registration is possible for:

  • the first training module: “Rare Disease Registries”, 28 – 30 September 2020
  • the second training module: “FAIRification of Data”, 1 – 2 October 2020
  • the entire course: “Rare Disease Registries” and “FAIRification of data”, 28 September – 2 October 2020

Fees and Costs 
The course and registration are free of charge.
The course organisers will not cover expenses incurred by the participants in any case.

Online registration is available at  https://sondage.inserm.fr/index.php/257338/lang-en
until July 19, 2020. 

For the programme and other information see https://www.ejprarediseases.org/wp-content/uploads/2020/06/EJP-RD_Summer-School-RD-RegistriesFAIRification.pdf
 
Important dates, deadlines, and further information, please visit the website at the following LINK https://www.ejprarediseases.org/index.php/international-summer-school-on-rare-disease-registries-and-fairification-of-data-2/

If you have any question please contact the course organizer: claudio.carta@iss.it  (with laura.cellai@iss in Cc).