Steven Brenner, a biologist faculty scientist in the Environmental Genomics & Systems Biology Division and a UC Berkeley computational biologist, was part of an interdisciplinary, international research team that has identified the rare genetic mutation responsible for a unique case of “boy in the bubble” disease, known as severe combined immunodeficiency (SCID), a deadly immune system disorder. The researchers found that the cause was a mutated version of a gene called BCL11B, which also plays an unexpected role in the normal processes of immune system development.
“This is a gene that had never been associated with SCID before, which required more advanced genome analysis techniques to discover,” said Brenner, co-author of the study, published on December 1 in the New England Journal of Medicine. “Moreover, unlike variants in every other known SCID gene, this mutation is dominant, which means you only need one copy of this mutation to disrupt multiple aspects of development.” Read more at UC Berkeley News.
