Gene Therapy, IVF, Stem Cells, and Pharmacogenomics

Gene Therapy: Human DNA is estimated to have approximately 12 million single nucleotide polymorphisms (SNPs) and thousands of copy number variants (CNVs), most of which are not harmful. However, genetic disorders do sometimes occur as a result of mutations that alter or inhibit protein function. Gene therapy focuses on correcting these mutated or defective genes by way of the following techniques

  • Random insertion of a normal gene into the genome (most common technique)
  • Replacement of the abnormal gene with a normal one
  • Repair of the abnormal gene
  • Altering regulation of a particular gene.

IVF: The in vitro fertilization (IVF) "miracle" of the late 1970s occurred five years before the polymerase chain reaction revolutionized the field of genetics, 18 years before the first bacterial genome was sequenced, and 26 years before completion of the human genome sequence.
Stem Cell Therapy: Beyond gene therapy, another issue of much debate relates to the use of stem cells. These cells can be divided into two broad classes: embryonic and adult. Both classes are currently being explored for possible therapeutic applications.
Pharmacogenomics: Today, the field of personalized medicine makes use of pharmacogenomics, or the science that predicts a person's response to a drug based upon that person's genetic makeup. Indeed, the U.S. Food and Drug Administration (FDA) signaled its commitment to personalized medicine with the decision to add a warning to the label of a widely used blood thinner stating that response to the drug might be influenced by a person's genetic makeup.

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