Scientists discover new mechanism that preserves genomic integrity, is abnormal in the rare DiGeorge syndrome

Wednesday, October 9, 2013 - 08:30 in Biology & Nature

An international team of scientists—including researchers at GENYO, the Centre for Genomics and Oncological Research (Pfizer-University of Granada- Andalusian Regional Government)—has described a molecular mechanism that facilitates the defence of the human genome against "bombarding" by mobile DNA sequences. Abnormalities in the mechanism could be responsible for some symptoms of DiGeorge syndrome, a rare disease. The research could in the future help develop new therapies against the disease, which is caused by the microdeletion of a small part of chromosome 22.

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