A biologia molecular contribuindo para a compreensão e a prevenção das doenças hereditárias

Ciência & Saúde Coletiva

Mayana Zatz¹ 

[1] ,Universidade de São Paulo Instituto de Biociências Departamento de BiologiaSão Paulo SP

关键词: Human genome;    Molecular diagnosis;    Neuromuscular disorders;    Therapeutic cloning;    Stem cells;    Ethical issues;    Genoma humano;    Diagnóstico molecular;    Doenças neuromusculares;    Clonagem terapêutica;    Células-tronco;    Aspectos éticos;   

DOI  :  10.1590/S1413-81232002000100008

来源: SciELO

【 摘 要 】

The sequencing of the human genome raised many questions such as: How the human genome project will influence our lives? How the medicine will benefit from the study of genes ? What are the application in practice and what can we expect from the future? What are the ethical implications? This chapter illustrates how genetic diseases, such as neuromuscular disorders are contributing to our understanding of the human genome. It helps us to start to understand how our genes work and why they cause diseases when mutated. One of the practical application of studying genes is the improvement of molecular diagnosis for a growing number of disorders which is of utmost importance to avoid other invasive exams, identify "at risk" couples and prevent the birth of new cases (through genetic counseling and prenatal diagnosis). Potential new treatments for neuromuscular and other genetic disorders including therapeutic cloning, the use of stem cells and the ethical implication of genetic tests are also discussed. The benefit of each test, in particular for disorders of late onset for which there is still no treatment have to be exhaustively discussed with the consulents before their application

【 授权许可】

CC BY   
 All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License