New England Journal of Medicine · 1995 · 17 citations · 0 references
Life SciencesGeneticsMolecular GeneticsGenomicsMedical GeneticsPathophysiologyDisease MechanismsDna SequencingGenetic DisordersNeurodegenerative DisordersNeurogenetic DisordersDisease-causing VariantsDna Sequence AnalysisDna Sequence CompositionEarly Onset Alzheimer DiseaseGenetic Disease MechanismsGenetic Linkage AnalysisPathogenic Gene Identification
Hardly a month goes by without a report that some new gene for a human disease has been cloned. Recently, for example, the genes responsible for ataxia–telangiectasia and early-onset Alzheimer's disease were isolated. In the final analysis, such studies always come down to a DNA sequence and whatever biologic function (or functions) we can infer from it. In other words, we may know from genetic-linkage studies that a particular gene sequence (in mutated form) is responsible for a disease, but what clues can a DNA sequence provide about the precise pathophysiology of that disease? Overwhelmingly, the answer now lies in . . .