Genetic mutations ultimately change the functionality of the cells in which they are found. Mutations in genes encoding nuclear, cytoplasmic and extracellular matrix protein lead to many different human diseases, ranging from neurological and developmental disorders to cancer and heart disease. Using induced pluripotent stem cell and gene-editing technologies, it is now possible to generate and study nearly every human genetic disorder. Having cellular models of disease is necessary to develop new treatments. Genetics is a branch of biology concerned with the study of genes, genetic variation, and heredity in organisms. Though heredity had been observed for millennia, Gregor Mendel, Moravian scientist and Augustinian friar working in the 19th century in Brno, was the first to study genetics scientifically. Several mechanisms to develop genetic variation occur at each of these stages. Before the gametes are formed homologous chromosomes exchange genetic material, resulting in new combinations of genes on each chromosome. Then during the generation of the gametes by meiosis, the homologous chromosomes are distributed randomly, ensuring that each gamete is unique. Advances in genetic technology are opening new avenues in terms of personalized medicine, efficient and reliable diagnosis, and highly accurate predictions based on genetic determinants. Broad genetic testing can now be undertaken on a clinically relevant time scale, allowing most DNA-related disorders such as cancer to be specifically identified and combated. However, many detailed links between genetic variants and phenotypes are still not fully understood, and the quantity of data generated by genome sequencing notably outstrips our ability to interpret it. Input from multiple disciplines is increasingly important to obtaining and interpreting such information, and many tools have been developed to capture relevant genomic sequences by classical laboratory and in-silico methods.

It is difficult to predict the moral standards of the future with regards to gene tailoring of children, though it is certain that it will be possible. If so, parents of the future may be able to choose which of their genes are inherited by their children, or even introduce entirely new traits into their genetic lineage.

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Sophie Kate
Managing Editor
Microbiology: Current Research
Email: aamcr@alliedacademies.org