How clinicians add to knowledge of development

Dian Donnai, Andrew P. Read

    Research output: Contribution to journalArticlepeer-review


    Studies of human birth defects and developmental disorders have made major contributions to our understanding of development. Rare human syndromes have allowed identification of important developmental genes, and revealed mechanisms such as uniparental disomy and unstable trinucleotide repeats that were not suspected from animal studies. Some aspects of development, in particular cognitive development, can only be studied in human beings. Basic developmental mechanisms are very highly conserved across a very wide range of animals, making for a rich interplay between animal and human studies. Often, clinical studies identify a gene, or suggest a hypothesis, that can then be investigated in animals.
    Original languageEnglish
    Pages (from-to)477-484
    Number of pages7
    JournalThe Lancet
    Issue number9382
    Publication statusPublished - 9 Aug 2003


    • genetics: Abnormalities
    • Animals
    • methods: Developmental Biology
    • genetics: Embryonic and Fetal Development
    • Gene Deletion
    • methods: Genetics, Medical
    • physiology: Homeodomain Proteins
    • Humans
    • genetics: Mosaicism
    • physiology: Multigene Family
    • genetics: Mutation
    • physiology: Transcription Factors
    • genetics: Trinucleotide Repeats
    • genetics: Uniparental Disomy


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