Genetic Disorders and Approaches to Their Prevention

Abstract

The new genetics or—as it is often called—genomics is one of the most exciting and challenging areas of science today. It promises to revolutionize medicine and healthcare in the twenty-first century. We are now only just beginning to understand the genetic basis of common diseases; but the number of patients with the potential to be affected by genetic susceptibility and the capability to identify them using newer advances in genetics is rising rapidly. The simple rules of inheritance proposed by Gregor Mendel are no longer adequate to explain complex patterns of inheritance, reflecting intriguing phenomena such as mitochondrial inheritance and genomic imprinting. The distinction blurs between the genetic factors and the environment in the expression of the clinical phenotype. Genes are no longer thought to operate in isolation but to interact with each other and with the environmental milieu, both external and internal.

Mapping of the human genome, one of the greatest scientific developments, places researchers at the edge of a new frontier that is already yielding medical breakthroughs and shows promise for many others. The resultant discoveries have come to herald a new era wherein these new scientific advances are fast becoming an integral part of modern medicine and have led to an increased understanding of diseases. Contemporary aspects, such as molecular diagnostic testing for various single gene disorders, bacterial and viral identification, chromosome analysis in congenital anomalies, and DNA analysis for forensic and parental identification, have come to be regarded as representative and crucial facets of present standards of health care.

This chapter aims to create an interface among the subject, its students, and its practitioners at the field level, encompassing diverse walks of life, ranging from diagnostics to industrial and pharmaceutical applications, as well keeping pace with the current emerging developments and the challenges involved. It is fondly hoped that this will serve as a platform for further scientific inquiries and pave the way for the refinement of the discipline in the times ahead.