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Medical biotechnology
Published in Firdos Alam Khan, Biotechnology Fundamentals, 2018
In recent years, there have been several reports regarding the potential use of human ES cells as models for human genetic diseases. This issue is especially important due to the species-specific nature of many genetic disorders. The relative inaccessibility of human primary tissue for research is another major hindrance. Several new studies have started to address this issue. This has been done either by genetically manipulating the cells or, more recently, by deriving diseased cell lines identified by prenatal genetic diagnosis (PGD). This approach may very well prove invaluable for studying disorders such as fragile X syndrome, cystic fibrosis, and other genetic maladies that have no reliable model system. Yury Verlinsky, a Russian-American medical researcher who specialized in embryo and genetic cytology, developed prenatal diagnosis testing methods to determine genetic and chromosomal disorders a month and an half earlier than standard amniocentesis. The techniques are now being used by many pregnant women and prospective parents, especially those couples with a history of genetic abnormalities. In addition, by allowing parents to select an embryo without genetic disorders, they have the potential of saving the lives of siblings that already have similar disorders and diseases using cells from the disease-free offspring.
Genetic ethics and mtDNA replacement techniques
Published in The New Bioethics, 2021
Other methods to reduce the risk of mitochondrial donation involve intervention from the intended parents before pregnancy through adoption or ARTs, including, donor oocytes (through in vitro fertilization), prenatal diagnosis, and preimplantation genetic diagnosis (Rai et al.2018). Adoption and donor oocytes remove the chance of the mother passing on the mutated mtDNA. However, these techniques cannot account for any mutations that may occur in the mtDNA after implantation and neither option allows parents to have children that are genetically related to them. Moreover, prenatal diagnosis can’t treat mtDNA diseases but can help parents prepare before birth through their identification in utero. Lastly, preimplantation diagnosis involves testing the embryo during IVF and transferring only the unaffected embryos into the recipient uterus (Wang and Sauer 2006). Although these options exist, they can be costly and do not guarantee the absence of mitochondrial disease. Due to the lack of treatment options, or costs associated with current options, the need to identify an effective method of treatment is vital.