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Chapter: Basic Concept of Biotechnology : Medical Biotechnology

Medical Biotechnology

Living cells and cell materials are used in the field of Medical biotechnology for research purposes to produce pharmaceutical and diagnostic products resulting in the treatment and prevention of human diseases.

Medical Biotechnology

Living cells and cell materials are used in the field of Medical biotechnology for research purposes to produce pharmaceutical and diagnostic products resulting in the treatment and prevention of human diseases. Insulin as well as growth hormones is the exemplary discoveries in the field of medical biotechnology. Tissue culture techniques are being used in detection of in born defects of metabolism and haemoglobinopathies; congenital abnormalities and understanding of clinical aspects of autosomal and sex chromosomal disorders. Medical biotechnology has advanced to develop organ culture, produce artificial blood and to perform transgenesis. The organ culture is performed to precisely model functions of an organ in numerous states and conditions by the usage of the existent in vitro organ itself. The substitutes for blood are under progress for transfusion in lieu of donor blood during emergencies or prolonged surgeries. Clinical trials are being conducted for the first generation of blood substitutes. Novel testing and screening measures have led to the donor blood supply progressively safe. Through transgenesis, an exogenous gene – called a transgene – is introduced into a living organism which leads to the exhibition of new properties by the organism and transference of those properties to its offspring. Various techniques viz. ballistic DNA injection, plasmid vectors, pronuclear injection, viral vectors and liposomes facilitates transgenesis.

The development in the biochemical diagnostic and screening tests are useful for a range of inherited metabolic disorders. Disorders like congenital disorders of glycosylation, lysosomal storage diseases, mucolipidoses and several inborn errors of metabolism are diagnosed by analyte and enzyme testing. Cancer cytogenetics with molecular aspects has undoubtedly made gigantic advances with the introduction and application of new methodologies. The introduction of FISH and other interrelated techniques viz. spectral karyotyping and comparative genome hybridization have furnished outcomes that could have been unknown otherwise. Whereas, Somatic cell genetics proved to be helpful in development of hybridoma technology followed by gene mapping and resultantly availability of polyclonal and monoclonal antibodies. Immunogenetics has provided a detailed knowledge about Immune deficiencies and disorders, blood groups and transplantation antigens, HLA and disease association followed by immunological diseases comprising AIDS, antigen processing and MHC. Dynamic mutations, caused by the expansion of unstable polymorphic DNA repeat sequences, can give rise to recessive, dominant or X-linked disorders, depending upon the position of the repeat sequence with respect to the genes that have received impact by the expansion. The characteristic feature of these mutations is the existing instability, which is a role of the copy number of repeats and can happen in either mitosis or meiosis. There is an association between repeat copy number and age-at-onset and/or severity of symptoms of the disease for several resultant disorders. Resultantly, a vast arena of research is now engrossed on recognizing the pathogenic ways from the mutation to the disease symptoms in the expectation of finding resources of delaying onset, slowing advancement or even preventing symptoms of the disease. The rising list of neuromuscular and neurodegenerative diseases caused by SBMA, HD, DRPLA, SCAs, OPMD, HDL-2, FRDA, FRAXA etc. Chromosomewalking as well as chromosomal localization of genes is used to detect a particular disease gene. The walking starts at the closest gene known as a marker gene and each successive gene in the sequence is verified continually for if any overlap restrictions and mapped for their accurate area in the sequence. When the gene is cloned, its function can be fully recognized. During the course of this process, assessments are done to fully categorize the properties of each successive clone, to map their positions for future use. G-banded chromosomal preparations are used for uncovering of autosomes of autosomal/sex chromosomal disorders (deletion, translocation, Klinefelter syndrome, Down’s syndrome, Turner’s syndrome, etc.); PCR bases diagnosis for. fragile-X syndrome and SRY in sex chromosomal anomalies); FISH for detections of translocations, inversions (using appropriate probes) (e.g., chro 9-22 translocation; X-Y translocation); DNA sequencing of representative clones to detect mutation(s); PCR-SSCP to detect mutations (e.g., sickle cell anemia, thalassemia);Southern blot-based diagnosis for trinucleoide expansions in fragile-X syndrome, SCA, etc.


Biotechnology plays an important role in the interpretation of the molecular causes of disease and in the improvement of novel diagnostic methods and improved targeted drugs. This technology allows new methods to treat diseases with new module of drugs targeting unknown causes. Individual patients are also getting attention for their differences. The diagnosis and treatment of diseases have become increasingly interlinked. Diseases being diagnosed on the basis of molecular information can bring the opportunity of effective treatment which would depend mainly on the availability of diagnostic techniques. Patients are gained by the progress in medical biotechnology with more precise, safer and more satisfactory treatment of their illnesses.

Medical biotechnology offers novel therapeutic possibilities and lead to fresh ways of fighting diseases such as rheumatic diseases, cancer and diabetes. Early and unambiguous diagnosis, along with the tests monitoring treatment and the stages of an illness, result in a successful treatment of patients.


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