The problem of rare (orphan) diseases in the Russian Federation: Medical and normative legal aspects of its solution

Novikov P.V.

doi:https://doi.org/

Novikov P.V.

Mental Health Research Center Russian Academy of Sciences, Moscow

The problem of rare (orphan) diseases in the Russian Federation: Medical and normative legal aspects of its solution

Authors:

Novikov P.V.

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Journal: Therapeutic Archive. 2014;86(12): 3‑12

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Novikov PV. The problem of rare (orphan) diseases in the Russian Federation: Medical and normative legal aspects of its solution. Therapeutic Archive. 2014;86(12):3‑12.

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Abstract:

The paper gives an update on orphan (rare) hereditary and congenital diseases and their definitions and considers approaches to estimating their incidence and prevalence and the existing problems of their diagnosis and treatment in the world and our country. It lists the hereditary diseases and syndromes belonging to rare conditions. The paper presents (considers) the most relevant problems of rare diseases, which call for priority solution.

Keywords:

orphan (rare) hereditary diseases

orphan drug

incidence and prevalence of a rare disease

clinical polymorphism

genetic heterogeneity

delivery of medical care

Authors:

Novikov P.V.

Mental Health Research Center Russian Academy of Sciences, Moscow

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References:

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