The Impact Of Sequencing Human Genome On Genetically Inherited Diseases

Abstract

This abstract attempts to explore if genetically inherited diseases could be prevented before conception. Sequencing Egg and Sperm before conception and comparing with the Reference Sequence will identify any deleterious mutations which will predict the onset of any serious illness in the embryo. Male and female differ genetically by their respective sex chromosome composition, that is, XY as male and XX as female. Although both X and Y chromosomes evolved from the same ancestor pair of auto somes, the Y chromosome harbors male-specific genes, which play pivotal roles in male sex determination, germ cell differentiation, and masculinization of various tissues. While the X-chromosome of the mother is made of 164 million AT-GC nucleotide base pairs and carries 1,144 genes, the Y-chromosome of the father is made of 59 million A-T-GC base pairs and carries 231 genes. The next generation of Nanopore Sequencer will sequence the X and Y-chromosome cheaper, faster and with great precision and accuracy.To this date, more than 6,000 genetic disorders are identified, and new genetic disorder are constantly being added in the medical literature. Some of the confirmed disorders include. Down syndrome (Trisomy 21), Fragile X syndrome, Klinefelter syndrome, Turner syndrome, Cystic Fibrosis, Thalassemia., Sickle Cell Anemia,Huntington's Disease, Duchenne's Muscular Dystrophy, Tay-Sachs Disease etc. Although some of these genetic diseases are treatable, Most of them remain under investigation. Once a mutation related to a disease is identified, our next challenge is to design drugs to shut of that mutated gene. Since the language of life of all living creatures are written in the same four genetic nucleotides, a drug design to treat genetic disease in animals could