November 15th – International 15q Day
Together with Angelman Syndrome Foundation and the Foundation for Prader-Willi Research, we are raising awareness of the similarities between Dup15q Syndrome, Angelman and Prader-Willi Syndromes.
Prader-Willi, Angelman and Dup15q Syndromes are all distinct neurodevelopmental disorders that are caused by changes within the specific q11 to q13 region of the long arm of chromosome 15 (called 15q). This region contains genes like SNRPN and UBE3A and others, which are very important for brain development. Unlike most other genes in the body, these genes behave differently depending on whether they are on the copy from the mom (maternal) or from the dad (paternal); this is a biological mechanism called ‘genomic imprinting.’
Because of the shared genetic variation, there are natural collaborations of education and science that have been created. One of the shared scientific projects is a feasibility project to develop a newborn screening test for Prader-Willi, Angelman, Fragile X and Dup15q Syndromes. This project is conducted by the Murdoch Children’s Research Institute in Melbourne, Australia. The screening will test a new diagnostic tool on 75,000 newborns.
Newborn screening means families with loved ones with Angelman, Prader-Willi, Fragile X and Dup15q Syndromes will find a diagnosis in weeks instead of years, avoiding a painful diagnostic odyssey. Diagnosing individuals earlier provides the best chance of treating the symptoms and improving their quality of life much sooner.