Matching Items (3)
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Description

Bernard Sachs studied nervous system disorders in children in the
United States during the nineteenth and twentieth centuries. In the
late 1880s, Sachs described the fatal genetic neurological disorder
called amaurotic family idiocy, later renamed Tay-Sachs disease. The
disorder degrades motor skills as well as mental abilities in
affected individuals.

Bernard Sachs studied nervous system disorders in children in the
United States during the nineteenth and twentieth centuries. In the
late 1880s, Sachs described the fatal genetic neurological disorder
called amaurotic family idiocy, later renamed Tay-Sachs disease. The
disorder degrades motor skills as well as mental abilities in
affected individuals. The expected lifespan of a child with
Tay-Sachs is three to five years. In addition to working on
Tay-Sachs disease, Sachs described other childhood neurological and
developmental disorders that stem from problems with early brain
development. Sachs's research in early brain development helped
establish some of the physiological symptoms of hereditary
neurological disorders in children, enabling doctors to diagnose the
disorders earlier and to develop treatments for them.

Created2017-05-31
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Description

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

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. The team created a virus that coded for a specific gene missing in mice with Tay-Sachs. That missing gene is called hexosaminidase subunit alpha (HEXA). Martino and the team injected the virus into the brains of mice with Tay-Sachs in attempt to restore Hexa enzymatic function in the brain and spinal cord (central nervous system).

Created2017-02-21
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Description

The arterial switch operation, also called the Jatene procedure, is an operation in which surgeons redirect the flow of blood through abnormal hearts. In 1975, Adib Jatene conducted the first successful arterial switch operation on a human infant. The arterial switch operation corrects a condition called transposition of the great

The arterial switch operation, also called the Jatene procedure, is an operation in which surgeons redirect the flow of blood through abnormal hearts. In 1975, Adib Jatene conducted the first successful arterial switch operation on a human infant. The arterial switch operation corrects a condition called transposition of the great arteries, abbreviated TGA, also called transposition of the great vessels, abbreviated TGV. TGA occurs when the pulmonary artery, which supplies deoxygenated blood to the lungs, and the aorta, which takes oxygenated blood to the body, are switched, or transposed. The switch between the aorta and pulmonary artery results in dangerously low levels of oxygen, a condition called cyanosis, in newborn infants, which causes them to die if a surgeon does not correct it.

Created2017-05-27