This young girl in Pinas, Ecuador, suffers from Laron syndrome. Laron syndrome is a rare, genetic disease that primarily impacts stature and motor development.
Photograph by Fritz Hoffmann, National Geographic
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    On February 29, 2008, nations in Europe brought attention to little-known medical conditions by instituting Rare Disease Day. More than 80 countries and a dozen international organizations now recognize Rare Disease Day, which is honored on February 28 in non-leap years.
    A rare disease is classified differently in different parts of the world. In the United States, a disease is considered rare if it affects fewer than 200,000 people. In Europe, a disease is considered rare if it affects fewer than 1 in 2,000 people. Most rare diseases are genetic, including cystic fibrosis, muscular dystrophy, and Huntington's disease.
    Rare Disease Day aims to bring attention to these diseases, and increase the funding available. Funding may include expanding access to medicine, medical equipment and care, and physical therapy. Funding may also allow researchers to study the genetic or environmental origins of rare diseases to help develop therapies or vaccines.
  • Term Part of Speech Definition Encyclopedic Entry
    cystic fibrosis Noun

    genetic disease that affects the respiratory and digestive systems.

    disease Noun

    harmful condition of a body part or organ.

    equipment Noun

    tools and materials to perform a task or function.

    funding Noun

    money or finances.

    genetic Adjective

    having to do with genes, inherited characteristics or heredity.

    Huntington's disease Noun

    genetic disease which affects the brain and nervous system.

    international organization Noun

    unit made up of governments or groups in different countries, usually for a specific purpose.

    Encyclopedic Entry: international organization
    medicine Noun

    substance used for treating illness or disease.

    microscopy Noun

    study, design, and use of microscopes.

    muscular dystrophy Noun

    genetic disease which affects muscles and movement.

    nation Noun

    political unit made of people who share a common territory.

    Encyclopedic Entry: nation
    recognize Verb

    to identify or acknowledge.

    research Noun

    scientific observations and investigation into a subject, usually following the scientific method: observation, hypothesis, prediction, experimentation, analysis, and conclusion.

    vaccine Noun preparation of a weakened or killed pathogen, or of a portion of the pathogen's structure that upon administration stimulates antibody production against the pathogen but is incapable of causing severe infection itself.