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Category Archives: Gene Medicine

GBA gene – Genetics Home Reference – NIH

Aharon-Peretz J, Rosenbaum H, Gershoni-Baruch R. Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. Continue reading

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Yale Launches Comprehensive DNA … – medicine.yale.edu

At a ceremony at Yale Center for Clinical Investigation on September 4, Yale School of Medicine and Yale New Haven Health System officially launched Generations, one of the largest DNA sequencing projects of its kind in the United States. The aim is to enroll more than 100,000 patients in and near Connecticut, whose DNA will then be analyzed by Yale scientists to develop useful data for predicting, preventing, and treating what may eventually be hundreds of gene-related conditions Continue reading

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CACNA1C gene – Genetics Home Reference – NIH

Mutations in the CACNA1C gene are responsible for all reported cases of Timothy syndrome. Continue reading

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HFE gene – Genetics Home Reference – NIH

Mutations in the HFE gene can increase the risk of developing a condition called porphyria. Continue reading

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JAK2 gene – Genetics Home Reference – NIH

Some gene mutations are acquired during a person's lifetime and are present only in certain cells. These changes, which are called somatic mutations, are not inherited. Somatic mutations in the JAK2 gene are associated with essential thrombocythemia, a disorder characterized by an increased number of platelets, the blood cell fragments involved in normal blood clotting Continue reading

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TSC2 gene – Genetics Home Reference – NIH

More than 1,100 mutations in the TSC2 gene have been identified in individuals with tuberous sclerosis complex, a condition characterized by developmental problems and the growth of noncancerous tumors in many parts of the body. Most of these mutations insert or delete a small number of DNA building blocks (base pairs) in the TSC2 gene. Continue reading

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