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• W112314891 abstract "Cognitive defects and neurological diseases represent a major issue for human health, especially in aging populations. An estimated 15% of people >65 years are affected by mild-to-severe conditions of genetic origin affecting the central nervous system. Etiological factors of common neurological and psychiatric disorders remain elusive, apart from a few genes associated with rare disorders, such as one form of Alzheimer's disease(APP),a form of amyotrophic lateral sclerosis (SOD1), expanded polyglutamine track in Huntington's disease, and several types of ataxia or ion channel-associated conditions. With the human DNA sequence unveiled as a huge book of 3 gigabases,1,2how can we exploit the genome readout to identify disease-associated alleles and what is the projected impact for clinical genetics? The “book of life” is complete to >90% of euchromatic gene-rich regions, opening unprecedented possibilities for the characterization of all genes. The emerging human catalogue is thought to contain about 30 000 genes. Until now, factors underlying inherited conditions were mostly identified by positional cloning without prior knowledge of their biochemical function, and the catalogue unlocks the door to fast in silico searching(Figure 1, Parti I).Figure 1.The human genome catalogue unlocks the door to fast in silico searching and the design of novel high-throughput genotyping strategie.Complex molecular processes govern organogenesis and fitness builds upon the correct orchestration of gene actions throughout life. Most clinical phenotypes result from alterations of genetic instructions perturbing this tightly regulated system, while being strongly influenced by individual genetic makeup. The profound transition seen with the sequence information is the ability to foster novel concepts in our way of addressing biology as a global entity. Comprehensive studies of genome landscape and common polymorphisms will help identify causal and susceptibility factors at a much greater pace(Figure 1, Parts II and III).Although 60% of human genes have no characterized function yet, the sequence provides a body of information for the design of global strategies in functional genomics, for instance, using molecular evolution to underpin function by inference. Comparative genomics is one of the most powerful approaches to deciphering the molecular basis of disease pathogenesis(Figure 2).Figure 2.Genome sequences boost the power of model organisms and comparative genomics for identifying disease genes and understanding their function.Another essential approach to extracting biological meaning from the genetic message is illustrated by global transcriptome analysis(Figure 3).Grasping how global gene expression is processed into phenotype will be essential to any progress in molecular medicine. Hunting for disease-associated alleles by surveying dynamic biological systems at all relevant developmental stages and in all relevant tissues brings novel perspectives that will allow the correlation of molecular phenotype with clinical phenotype.Figure 3.Global analysis of the transcriptome by complex hybridization on assays: identifying and spotting all of the ≈ 16 000 to 20 000 genes that could be expressed in the human brain." @default.
• W112314891 created "2016-06-24" @default.
• W112314891 date "2001-03-01" @default.
• W112314891 modified "2023-09-26" @default.
• W112314891 title "Impact of the genome project on the identification of disease genes" @default.
• W112314891 doi "https://doi.org/10.31887/dcns.2001.3.1/mlyaspo" @default.
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