November 15th Is International 15q Day

Together, the Foundation for Prader-Willi Research, Angelman Syndrome Foundation and Dup15q Alliance are raising awareness of the similarities between Angelman, Dup15q, 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 a number of important genes. 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."

  • If the 15th chromosome from dad is missing information of the q11- q13 region, this causes Prader-Willi syndrome.
  • If the 15th chromosome from mom is missing information of the q11-q13 region, this causes Angelman syndrome.
  • If there is extra paternal or maternal q11-q13 information present on chromosome 15q, this can cause Dup15q syndrome.

 

Comparison - Angelman, Dupe15q, Prader-Willi syndromes

 

Collaboration Between Syndromes

Because of the shared genetic variation, there are natural opportunities for collaborations between the 3 syndromes. One such collaborative project we have undertaken is a feasibility project to develop a newborn screening test for Prader-Willi, Angelman, Fragile X and Dup15q syndromes. This project, conducted by the Murdoch Children’s Research Institute in Melbourne, Australia, has tested the new diagnostic tool on 75,000 newborns with great accuracy.

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.

Limited Time Offer!

International 15q Awareness Shirt

To mark International 15q Day and spread awareness of Angelman, Dup15q, and Prader-Willi syndromes, a limited edition t-shirt is available now for purchase. A portion of each purchase will be given to each organization. Order your t-shirt today!

ORDER YOUR 15Q DAY T-SHIRT

Learn More About the Syndromes

You can learn more about Angelman and Dup15q syndromes by visiting the following patient organizations:

And an overview of Prader-Willi syndrome can be found on our About Prader-Willi syndrome page

 

Topics: Research

Susan Hedstrom

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Susan Hedstrom is the Executive Director for the Foundation for Prader-Willi Research. Passionate about finding treatments for PWS, Susan joined FPWR in 2009 shortly after her son, Jayden, was diagnosed with Prader-Willi Syndrome. Rather than accepting PWS as it has been defined, Susan has chosen to work with a team of pro-active and tireless individuals to accelerate PWS research in order to change the future of PWS. Inspired by her first FPWR conference and the team of researchers that were working to find answers for the syndrome, she joined the FPWR team in 2010 and led the development of the One SMALL Step walk program. Under Susan’s leadership, over $15 million has been raised for PWS related research.

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