Topic: Medicine/Medical genetics

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DNA Digital Data Storage

Technology Computing Medicine Molecular and Cell Biology Medicine/Medical genetics

DNA digital data storage is the process of encoding and decoding binary data to and from synthesized strands of DNA.

While DNA as a storage medium has enormous potential because of its high storage density, its practical use is currently severely limited because of its high cost and very slow read and write times.

In June 2019, scientists reported that all 16 GB of text from Wikipedia's English-language version have been encoded into synthetic DNA.

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Har Gobind Khorana

United States Biography Medicine Biology Biography/science and academia India Molecular and Cell Biology Medicine/Medical genetics United States/Asian Americans

Har Gobind Khorana (9 January 1922 – 9 November 2011) was an Indian-American biochemist. While on the faculty of the University of Wisconsin–Madison, he shared the 1968 Nobel Prize for Physiology or Medicine with Marshall W. Nirenberg and Robert W. Holley for research that showed the order of nucleotides in nucleic acids, which carry the genetic code of the cell and control the cell's synthesis of proteins. Khorana and Nirenberg were also awarded the Louisa Gross Horwitz Prize from Columbia University in the same year.

Born in British India, Khorana served on the faculties of three universities in North America. He became a naturalized citizen of the United States in 1966, and received the National Medal of Science in 1987.

Williams syndrome

Medicine Medicine/Neurology Medicine/Medical genetics

Williams syndrome (WS) is a genetic disorder that affects many parts of the body. Facial features frequently include a broad forehead, short nose and full cheeks, an appearance that has been described as "elfin". While mild to moderate intellectual disability with particular problems with visual spatial tasks such as drawing is typical, verbal skills are generally relatively unaffected. Those affected often have an outgoing personality, interact readily with strangers, and appear happy. Problems with teeth, heart problems, especially supravalvular aortic stenosis, and periods of high blood calcium are common.

Williams syndrome is caused by a genetic abnormality, specifically a deletion of about 27 genes from the long arm of one of the two chromosome 7s. Typically this occurs as a random event during the formation of the egg or sperm from which a person develops. In a small number of cases, it is inherited from an affected parent in an autosomal dominant manner. The different characteristic features have been linked to the loss of specific genes. The diagnosis is typically suspected based on symptoms and confirmed by genetic testing.

Treatment includes special education programs and various types of therapy. Surgery may be done to correct heart problems. Dietary changes or medications may be required for high blood calcium. The syndrome was first described in 1961 by New Zealander John C. P. Williams. Williams syndrome affects between 1 in 7,500 to 1 in 20,000 people at birth. Life expectancy is less than that of the general population, mostly due to the increased rates of heart disease.

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