History of Tay–Sachs disease

History of Tay–Sachs disease is a topic that covers the historical development and understanding of Tay–Sachs disease, a rare and usually fatal genetic disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.

Early History

The earliest known description of a possible Tay–Sachs disease case was by British ophthalmologist Warren Tay in 1881. He described a patient with a cherry-red spot on the retina of the eye. However, it was not until 1887 that the disease was more fully described by American neurologist Bernard Sachs, who noted the cellular changes in the brain of Tay–Sachs patients and observed the familial nature of the disease.

20th Century Developments

In the 20th century, the understanding of Tay–Sachs disease advanced significantly. In 1933, the first biochemical test for Tay–Sachs was developed, allowing for more accurate diagnosis. In the 1960s, the enzyme deficiency responsible for Tay–Sachs was discovered, and in 1985, the gene mutation causing the disease was identified.

Modern Understanding and Research

Today, Tay–Sachs disease is understood to be caused by a mutation in the HEXA gene. This gene provides instructions for producing an enzyme that plays a critical role in the brain and spinal cord. Without this enzyme, a fatty substance accumulates to toxic levels in the patient's neurons, leading to the symptoms of Tay–Sachs.

Research into Tay–Sachs disease continues, with scientists exploring potential treatments such as enzyme replacement therapy, substrate reduction therapy, and gene therapy. Prenatal testing and carrier screening for Tay–Sachs disease are also available, helping to reduce the incidence of the disease.

See Also

• Genetic disorders
• Neurological disorders
• Enzyme deficiency
• Gene therapy

References

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  Bernard Sachs, neurologist who described the disease

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  Affymetrix 5.0 microarray used in genetic testing