From genetic research into clinical practice

B. Dallapiccola, I. Torrente, R. Mingarelli, G. Novelli

Research output: Contribution to journalArticle

Abstract

The present genome era is characterized by speedy progress and prompt transfer of results into clinical practice. This creates the need for rapid disclosure of results and renewal of laboratory's protocols. Molecular cytogenetics has provided and increased ability to identify chromosomes, correlate chromosome structure with gene location, find out cryptic aberrations, and detect specific DNA sequences. These advances have allowed the confident discovery of a number of contiguous gene syndromes. The positional cloning and positional candidate strategies have greatly expedited the search process of disease genes, and become relevant methods for genes' discovery. Understanding the molecular basis of diseases has shown an unpredicted wide genetic heterogeneity, which has splitted single disorders into many clinically similar conditions, and added complexity to the nosology of human diseases. The opposite process, allelism, where clinical diversity results from allelic mutations, has lumped together many distinct disorders, by showing that different clinical entities are not necessarily due to mutations in different genes. Dynamic mutations have provided the molecular understanding of interindividual and intrafamilial variability including anticipation, in a number of diseases. The discovery of distinct correlations between the molecular pattern and disease severity is providing a unique opportunity for using molecular results to assess the clinical outcome. Diagnostic, presymptomatic and predictive molecular testing are becoming widely used and provide enormous opportunities for improving the lot of our patients.

Original languageEnglish
Pages (from-to)139-146
Number of pages8
JournalActa Geneticae Medicae et Gemellologiae
Volume46
Issue number3
Publication statusPublished - 1997

Keywords

  • Contiguous gene syndromes
  • DiGeorge/velocardiofacial syndrome
  • Dynamic mutations
  • Genetic heterogeneity
  • Genetic testing
  • Molecular cytogenetics
  • Spinal muscolar atrophy
  • Williams syndrome

ASJC Scopus subject areas

  • Genetics(clinical)

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