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University of Edinburgh Discovers New CdLS Gene

Dr David Fitzpatrick's team at the MRC Human Genetics Unit, University of Edinburgh, have unearthed a new gene that links to CdLS. The mutated gene is called BRD4 and can interact with NIPBL and affect development. The find has already been published in the journal, Nature Genetics. (Please note - this is a scientific publication, subscription only.)

Dr Fitzpatrick says, "This work helps us diagnose children with CdLS quickly and accurately but will also provide focus for future research into the underlying developmental changes that cause these children so many different clinical problems."

Further studies are needed to determine how changes in these genes can lead to developmental disorders. The story on the University's website can be found here:

www.ed.ac.uk/igmm/news-and-events/news-2018/brd4-cdls-study