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What Does a Cytogeneticist Do?

By T. Carrier
Updated May 17, 2024
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A cytogeneticist is concerned with cellular processes within the human body. The genetic portions of cells — or chromosomes — are of particular interest to experts in this field. As such, hereditary diseases and abnormalities are an important area of study in this field. Cytogeneticists typically take cell samples from tissues or fluids for the purpose of identifying chromosomal functions or assisting in diagnosis of diseases. People seeking a job combining science and medicine may find a fit in cytogenetics, provided they are willing to obtain a four-year undergraduate science degree.

Individuals in this field should be proficient in handling cells under a microscope, as study and research are vital components of cytogenetics. In a laboratory setting, the cytogeneticist may prepare cell cultures, study cell division processes like mitosis, and investigate slight variations and mutations between different cells. Screening for diseases ranging from cancer to mental illness are commonplace. The work of Cytogeneticists may also prove important in generating new techniques for performing these complex processes. They could even manipulate cell structures for purposes of genetic recombination and genetic therapy.

Another area of concentration for the cytogeneticist is chromosome identification, or chromosome banding. Several techniques like quinacrine banding and giemsa banding are used to stain and study chromosomes. This analysis is known as karyotyping. The cytogeneticist looks for similarities and differences in the structures of various chromosomes. Cells for study may be obtained from numerous body fluids or tissues.

Cytogenetics has been the centerpiece of many major scientific discoveries. Pioneering work in cell studies have been used as evidence for natural selection — or "survival of the fittest" — in evolutionary theories. The finding that deoxyribonucleic acid (DNA) and chromosome parts could shift and move within a cell led to a Nobel Prize in the 1980s. Cytogeneticists have also been at the forefront of advancements in stem cell and cloning practices.

Perhaps the most lasting legacy of cytogenetics is its contribution to the medical field. Research has provided needed insight into genetic abnormalities like those responsible for Down syndrome and Klinefelter’s syndrome. In addition, works of the cytogeneticist have uncovered genetic factors for a variety of diseases ranging from anemia to some types of cancer. On a day-to-day basis, cytogeneticists may assist with making numerous diagnoses on patients.

Aside from independent work and medical projects, research contributions to the overall field is an important role of the cytogeneticist. In order to ensure scientific integrity and make results more easily accessible to colleagues, a cytogeneticist will routinely make a written record of all data and generate reports from this data. If the work is particularly noteworthy, the researchers may submit their findings to scientific journals.

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