title: How clinicians add to knowledge of development.
abstract: 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.
authors.affiliation: University of Manchester, Academic Unit of Medical Genetics and Regional Genetic Service, St Mary's Hospital, M13 0JH, Manchester, UK. dian.donnai@cmmc.nhs.uk
authors.forename: Dian
authors.initials: D
authors.lastname: Donnai
authors.forename: Andrew P
authors.initials: AP
authors.lastname: Read
mesh_terms: D000818:Animals; D000013:Congenital Abnormalities / Q000235:genetics* / Q000503:physiopathology; D015509:Developmental Biology / Q000379:methods*; D005314:Embryonic and Fetal Development / Q000235:genetics / Q000502:physiology; D017353:Gene Deletion; D005826:Genetics, Medical / Q000379:methods*; D018398:Homeodomain Proteins / Q000502:physiology; D006801:Humans; D009030:Mosaicism / Q000235:genetics / Q000503:physiopathology; D005810:Multigene Family / Q000502:physiology; D009154:Mutation / Q000235:genetics / Q000502:physiology; D014157:Transcription Factors / Q000502:physiology; D018911:Trinucleotide Repeats / Q000235:genetics; D024182:Uniparental Disomy / Q000235:genetics
chemical_list: D018398:Homeodomain Proteins; D014157:Transcription Factors