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Tools and Equipment of Science

Author(s): Tracy Volz, PhD
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Gene identification enables investigation into the causes of genetic disorders, the development of diagnostic tests for genetic disorders, and the exploration of new therapies.

A variety of genetic testing technologies are available, but not every technology is appropriate for every disorder. For example, while a karyotype is very effective for detecting Down syndrome (a chromosomal aneuploidy), it will not diagnose cystic fibrosis (CF, a single gene disorder). Thus, the selection of the appropriate testing strategy for the detection of a particular genetic disorder must be based on an understanding of the molecular basis of the disorder.

A variety of treatment approaches have the potential to impact the course of genetic diseases. For example, enzyme replacement therapies hold promise for patients affected by loss of function mutations in certain enzymes. But this approach will not work for the treatment of muscular dystrophy that is caused by abnormalities in the architecture of muscle cells. Therefore, the investigation into treatments for genetic disorders requires an understanding of the biochemical mechanisms of each disease.

The completion of the Human Genome Project has given scientists new tools with which to identify and understand the genetic factors that contribute to disease, but much work remains to be done. Over the next few decades, the discoveries of genetic factors that influence human health and disease, and patient responses to medications, are expected to revolutionize the practice of medicine. Education is crucial if genetic medicine is to fulfill its potential. We need well-prepared teachers to train students who will become the next generation of researchers, doctors, lawmakers and patients.