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Nuclear transplantation is a method in which the nucleus of a donor cell is relocated to a target cell that has had its nucleus removed (enucleated). Nuclear transplantation has allowed experimental embryologists to manipulate the development of an organism and to study the potential of the nucleus to direct development. Nuclear transplantation, as it was first called, was later referred to as somatic nuclear transfer or cloning.
Sir John Bertrand Gurdon further developed nuclear transplantation, the technique used to clone organisms and to create stem cells, while working in Britain in the second half of the twentieth century. Gurdon's research built on the work of Thomas King and Robert Briggs in the United States, who in 1952 published findings that indicated that scientists could take a nucleus from an early embryonic cell and successfully transfer it into an unfertilized and enucleated egg cell.
In the early 2000s, Sabata Martino and a team of researchers in Italy and Germany showed that they could reduce the symptoms of Tay-Sachs in afflicted mice by injecting them with a virus that infected their cells with a gene they lacked. Tay-Sachs disease is a fatal degenerative disorder that occurs in infants and causes rapid motor and mental impairment, leading to death at the ages of three to five. In gene therapy, researchers insert normal genes into cells that have missing or defective genes in order to correct genetic disorders.
In 1881 British opthalmologist Warren Tay made an unusual observation. He reported a cherry-red spot on the retina of a one-year-old patient, a patient who was also showing signs of progressive degeneration of the central nervous system as manifested in the child's physical and mental retardation. This cherry-red spot is a characteristic that would eventually come to be associated with metabolic neurological disorders like Sandhoff, GM-1, Niemann-Pick, and, to the credit of Tay, the lysosomal storage disorder known as Tay-Sachs disease.
August Friedrich Leopold Weismann studied how the traits of organisms developed and evolved in a variety of organisms, mostly insects and aquatic animals, in Germany in the late nineteenth and early twentieth centuries. Weismann proposed the theory of the continuity of germ-plasm, a theory of heredity. Weismann postulated that germ-plasm was the hereditary material in cells, and parents transmitted to their offspring only the germ-plasm present in germ-cells (sperm and egg cells) rather than somatic or body cells.