Rare Diseases



Overview
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Causes
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    While most of the genetic diseases are rare diseases, all rare diseases are not caused by genetic defects. There are very rare infectious diseases for instance, as well as auto-immune diseases and very rare poisonings. The cause remains unknown to date for most diseases .
    Source: ORPHANET - About rare diseases - About orphan drugs (orpha.net)

Epidemiology
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    There are thousands of rare diseases. To date, six to seven thousand rare diseases have been found and five new diseases are described every week in the medical literature. This number also depends upon the accuracy of the definition. A disease has been defined as a state of dysfunction of one or more body systems. Whether a single pattern is considered unique depends on the state of our knowledge, on the accuracy of clinical and investigative analysis and on the way we choose to classify diseases in general.
    Source: ORPHANET - About rare diseases - About orphan drugs (orpha.net)

Prevention
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    Newborn screening can be performed to pick up on any rare disease and associated preventable complications.
    Newborn screening tests take place before your newborn leaves the hospital. Babies are tested to identify serious or life-threatening conditions before symptoms begin. Such diseases are usually rare. However, they can affect a baby's normal physical and mental development.
    Most tests use a few drops of blood from pricking the baby's heel. A hearing test involves placing a tiny earphone in the baby's ear and measuring his or her response to sound.
    If a screening test suggests a problem, your baby's doctor will follow up with further testing. If those tests confirm a problem, the doctor may refer you to a specialist for treatment. Following your doctor's treatment plan can save your baby from lifelong health and developmental problems.
    Source: MedlinePlus: Newborn Screening (nlm.nih.gov)

Symptoms
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    Rare diseases are serious chronic diseases, and often life-threatening. Signs may be observed at birth or in childhood, as in proximal spinal muscular atrophy, neurofibromatosis, osteogenesis imperfecta, chondrodysplasia or Rett syndrome for instance.
    However, more than 50 % of rare diseases appear during adulthood, such as Huntington disease, Crohn disease, Charcot-Marie-Tooth disease, amyotrophic lateral sclerosis, Kaposi's sarcoma or thyroid cancer .
    Source: ORPHANET - About rare diseases - About orphan drugs (orpha.net)

Treatment
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    The so-called 'orphan drugs' are intended to treat diseases so rare that sponsors are reluctant to develop them under usual marketing conditions.
    The process from the discovery of a new molecule to its marketing is long (10 years in average), expensive (several tens of millions of euros) and very uncertain (among ten molecules tested, only one may have a therapeutic effect). Developing a drug intended to treat a rare disease does not allow the recovery of the capital invested for its research.

    Orphan drugs may be defined as :
    Drugs that are not developed by the pharmaceutical industry for economic reasons but which respond to public health need. Actually, the indications of a drug may also be considered as ' orphan ' since a substance may be used in the treatment of a frequent disease but may not have been developed for another, more rare indication.
    Source: ORPHANET - About rare diseases - About orphan drugs (orpha.net)

News
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Scientific Articles (a selection for patients)
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    Treatment for periodic paralysis
    Sansone V, Meola G, Links TP, Panzeri M, Rose MR.
    (Details: open / close)
    Source: Treatment for periodic paralysis (cochrane.org)
    Drugs for rare diseases: mixed assessment in Europe
    No authors listed.

    (Details: open / close)
    Source: Drugs for rare diseases: mixed assessment in Europ...[Prescrire Int. 2007] - PubMed Result (ncbi.nlm.nih.gov)
    Developing treatments for inborn errors: incentives available to the clinician
    Haffner ME

    (Details: open / close)
    Source: Developing treatments for inborn errors: incentive...[Mol Genet Metab. 2004] - PubMed Result (ncbi.nlm.nih.gov)

Medical Journals (for health professionals)
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Association
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Other links
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