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Anglais médical - Les maladies rares

Publié le 17/02/2022
Gene Therapy

Gene Therapy

Ce cours d’anglais, élaboré par Virginia Allum, auteur et consultante EMP (English for Medical Purposes) traite du tabagisme. Les corrigés des exercices sont à retrouver en PDF en bas de page. N'hésitez pas à vous servir du dictionnaire en ligne Wordreference. Vous trouverez à la fin de cet article les corrections des exercices qui vous sont proposés téléchargeables au format pdf.

Activity 1: Match the English term with the correct French term.

1. rare disease a) le test de dépistage
2.  sleeping sickness b) le médicament orphelin
3. neglected disease c) le saturnisme
4. quality adjusted life year (QALY) d) paradoxe de la rareté
5. orphan drug e) la maladie du sommeil
6. screening test f) la maladie rare
7. paradox of rarity g) les années-personnes sans invalidité (APSI)
8. lead poisoning h) la maladie négligée

Activity 2 : Complete the definitions using terms from activity 1.

  1. _________: accumulation of toxic levels of lead in the bloodstream
  2. _________: identification of an increased risk of a particular disease
  3. _________: medication, often very costly, which treat rare diseases
  4. _________: contradiction that some diseases occur rarely but there is a large number of rare diseases
  5. _________: measurement of the value of treatment on a person’s quality of life
  6. _________: disease transmitted by parasites on the tsetse fly which affects the central nervous system
  7. _________: condition which only affects a very small percentage of the population
  8. _________: conditions whose treatments are not considered profitable because of their considerable cost to develop

Activity 3: Read the text and answer the questions.

Rare diseases

There is currently no consensual definition of what is a rare or orphan disease: in Europe, a disease is considered rare if it affects less than 1 in 2000 citizens, while in United States of America (USA), the threshold was set at 200,000 in the entire population (approximately 1 in 1600). The term health orphan describes a person who is affected by a rare disease.

Most genetic diseases are rare diseases, but some infectious diseases, cancer and auto-immune diseases are also rare. Screening tests are used to identify newborns in high risk groups.

Geographical variations also occur, so that some diseases can be rare in one country but quite frequent in another. For example, Familial Mediterranean Fever, an inherited condition, is more common in people of Sephardic Jewish, Armenian, Arab or Turkish heritage.

Some rare diseases are well known and have been well-studied, however, some are recent discoveries. Patients who are diagnosed with a recently discovered rare disease often have difficulties finding a physician with sufficient experience in its treatment and physicians may also struggle to develop treatment plans without available care pathways.

Rare diseases can be neglected because treatment options are not considered profitable due to high development costs and use on a limited patient population. Despite this, the ‘paradox of rarity’ means that, although each rare disease may be uncommon, there are between 5000 and 8000 rare diseases in total.

Medications which are available to treat rare diseases are classified as orphan drugs.

Like rare disease, neglected diseases are not considered a priority by pharmaceutical companies. Neglected diseases include infectious tropical diseases, e.g. sleeping sickness as well as conditions such as lead poisoning. Neglected diseases often affect people in poorly funded countries.

Before a new drug to treat a rare disease is approved, a cost assessment per quality adjusted life year of QALY is made. An orphan drug is one where there is a reasonable expectation of recuperating development costs.

  1. What is the text about?
    A    rare diseases versus neglected diseases
    B    mortality rates from rare diseases
    C    rare diseases and their treatment
  2. What is the definition of a rare disease?
    A    an incidence between 2000 and 200000
    B    it differs between the USA and Europe
    C    a disease which only occurs occasionally
  3. What does geographical variation mean with regard to rare diseases?
    A    a disease may be common in one country but uncommon in another
    B    the geography of rare diseases can differ between diseases
    C    rare diseases may have a different form in different places
  4. What is one of the main issues with treatment of rare diseases?
    A    it is not worth developing treatment for small numbers
    B    the cost of developing orphan drugs is extremely high
    C    patients don’t want to pay for the cost of medication
  5. New drugs are only developed if they can be shown to …
    A    increase a patient’s life span to normal levels
    B    improve quality of life within a year
    C    improve quality of life enough to warrant the cost of the drug

Activity 4: Research

According to an article on the BBC website, Libmeldy is the ‘world's 'most expensive' drug recommended for NHS use’ (

1. What type of drug is it and what is the drug used for?
2. When was the drug approved for use in Europe and the UK?
3. What other diseases are being treated with gene therapy?


Téléchargez les corrections au format PDF

Virginia ALLUM Author and Consultant in English for Medical Purposes

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