The Indian Practitioner

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Application of Genetics in Clinical Practice


Affiliations
1 Foundation for Research in Genetics and Endocrinology (FRIGE) Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad 380015, Gujarat, India
     

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Since the completion of the human genome project our understanding of the genes, and their function in various pathophysiological conditions, has advanced and revolutionized the medical field. From a simple chromosome study to complex DNA sequencing, array CHG, and Next-Generation sequencing technology has made it possible to diagnose many rare diseases which were thought of as nonexistence or difficult to diagnose. And many of these disorders can be treated if diagnosed early. The burden of genetic disorders seems to be high in India likely to be due to consanguinity practiced in many communities. The present article is a basic understanding of the field of genetics and when to suspect and, how to diagnose and manage in day-to-day clinical practice.



Keywords

Genes, DNA, NGS, DNA sequencing, chromosome
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  • Application of Genetics in Clinical Practice

Abstract Views: 169  |  PDF Views: 0

Authors

Jayesh Sheth
Foundation for Research in Genetics and Endocrinology (FRIGE) Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad 380015, Gujarat, India
Aadhira Nair
Foundation for Research in Genetics and Endocrinology (FRIGE) Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad 380015, Gujarat, India
Frenny Sheth
Foundation for Research in Genetics and Endocrinology (FRIGE) Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad 380015, Gujarat, India
Harsh Sheth
Foundation for Research in Genetics and Endocrinology (FRIGE) Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad 380015, Gujarat, India

Abstract


Since the completion of the human genome project our understanding of the genes, and their function in various pathophysiological conditions, has advanced and revolutionized the medical field. From a simple chromosome study to complex DNA sequencing, array CHG, and Next-Generation sequencing technology has made it possible to diagnose many rare diseases which were thought of as nonexistence or difficult to diagnose. And many of these disorders can be treated if diagnosed early. The burden of genetic disorders seems to be high in India likely to be due to consanguinity practiced in many communities. The present article is a basic understanding of the field of genetics and when to suspect and, how to diagnose and manage in day-to-day clinical practice.



Keywords


Genes, DNA, NGS, DNA sequencing, chromosome

References