In July 2017,
a clinical Center specialized in rare disease was funded,
designed to help Patients who are still struggling in search of a defined diagnosis.
 As defined by the European Union Regulation on Orphan Medicinal Products (1999),
in European Countries a disease is rare when one in 2000 people is interested.
These pathologies are often serious,
with a progressive and worsening course and may be life-threatening. Rare diseases are also known as “orphan”...
Methods and Materials
The Center included an alphabetical database of n= 621 main rare diseases (with main name as well as alternative names),
based on the available data in the medical literature,
to help Orphan Patients find detailed information about their conditions.
 From September 2017 to January 2017 one junior radiologist (F.R.) evaluated one by one all the n=621 pathologies of the list to assess when radiology has a primary role in the diagnostic pathway.
The rare disease involving the musculoskeletal...
The first part of the research selected the rare diseases that could be diagnosed with an imaging approach.
The pathologies involving the Musculoskeletal system were selected and for each one a subdivision into categories was done. Table 1 Role of medical imaging in the diagnosis of rare diseases involving the Musculoskeletal system. N=101/621 (16%) rare diseases can be diagnosed for the first time with medical imaging.
N= 36/101 (36%) rare diseases involve the Musculoskeletal system,...
Rare diseases meant “Orphan” Patients,
people who are often seriously and chronically ill.
The absence of diagnosis represents an unmet medical need.
Even if most of rare conditions have congenital causes,
medical imaging plays an important and primary role in the diagnostic pathway. In conclusion,
medical imaging plays a primary role in the diagnosis of musculoskeletal rare diseases and must be considered as an important step in the diagnosis pathway.Incentives for the development of...
 https://www.imalatiinvisibili.it/  Regulation (EC) No 141/2000 of the European Parliament and of the Council of 16 December 1999 on orphan medicinal products.
Official Journal L 018 ,
0001 - 0005  https://www.eurordis.org/about-rare-diseases  Institute of Medicine.
Rare Diseases and Orphan Products: Accelerating Research and Development.
DC: The National Academies Press.
Federica Rossi 1 ,
Giovanni Murialdo 2 ,
Angelo Schenone 3 ,
Marina Grandis 3 ,
Diego Ferone 4 ,
Alberto Tagliafico 1,5 1 Department of Health Sciences (DISSAL),
University of Genova,
Italy. 2 Department of Internal Medicine,
Policlinico San Martino University Hospital,
University of Genoa,
Italy. 3 Department of Neuroscience,
and Maternal and Child Health,
University of Genova,