Rare diseases in the spotlight

Ever-increasing attention and research efforts.

Rare diseases are undoubtedly a major challenge for the health systems of all developed countries, even those with highly advanced forms of welfare and health care.
In Italy and in Europe, the European Commission on Rare Diseases, the Orphanet network and many other public and private stakeholders are engaged in the effort to constantly update the list of rare diseases and to support research into appropriate diagnostic and therapeutic tools.
Initiatives aimed at taking stock and drawing the public's attention include the workshop 'Orphan drugs and rare diseases', organised on 2 December by Federsanità-Anci and Motore Sanità at the Spadolini Library of the Senate, and the national seminar organised by AMMI (Italian Medical Wives Association) in Milan on 3 and 4 October entitled 'AMMI for rare disease research' (see article in AMMI Journal No. 3, pp. 4-7).

Among rare diseases, particular attention should be paid to ocular diseases, which are countless and include, to name but a few, ocular pemphigoid, hereditary retinal dystrophies such as retinitis pigmentosa and Stargardt's dystrophy, Behçet's disease and many others.
We would particularly like to point out that with regard to Acanthamoeba keratitis, the ODAK research project (see article), aimed at the development of an orphan drug based on the biguanide PHMB.

 

Dr. Carmelo Chines
Direttore responsabile

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