Best Ever CRE Blog

Dup15q Alliance

Written by Best Ever CRE Team | Apr 30, 2019 8:54:56 PM

Who They Are

Dup15q Alliance is a nonprofit 501(c)(3) corporation. Originally founded under the name of IsoDicentric 15 Exchange, Advocacy and Support in 1994 by Donna Bennett, mother to Joshua (a young man with idic(15)) and Brenda Finucane, MS, LGC, who was then the Director of Genetic Services at Elwyn Inc., as a list of 13 families raising children with chromosome 15q duplications, the support group grew and in 2004 it was officially incorporated into a nonprofit organization. The organization’s name was changed in 2011 to Dup15q Alliance to encompass both interstitial and isodicentric variations of the disorder known as chromosome 15q11.2-13.1 duplication (dup15q) syndrome. Today, there are almost 1,000 families from around the world affiliated with Dup15q Alliance. The organization is a mostly volunteer run organization supported by grants, donations and many hours of volunteer effort.

What They Do 

Dup15q Alliance provides family support and promotes awareness, research and targeted treatments for chromosome 15q11.2-13.1 duplication syndrome.Through their work to raise awareness and promote research into chromosome 15q duplications, they seek to find targeted treatments so that affected individuals can live full and productive lives. Together with their families, Dup15q Alliance is working towards a better tomorrow for children with chromosome 15q11.2-13.1 duplication (dup15q) syndrome.

About Dup15q Syndrome…
Chromosome 15q11.2-13.1 duplication syndrome (dup15q syndrome) is a clinically identifiable syndrome which results from duplications of chromosome 15q11.2-13.1. These duplications most commonly occur in one of two forms. These include an extra isodicentric 15 chromosome, abbreviated idic(15), or an interstitial duplication 15, abbreviated int dup(15). When the extra genetic material comes from the paternal chromosome a child may have normal development. However, when the duplicated material comes from the maternal chromosome, developmental problems are often the result. In most cases of chromosome 15q11.2-13.1 duplication syndrome, the chromosome duplication is not inherited, but occurred as a random event during the formation of reproductive cells (eggs and sperm) or during early embryonic development.

It is important to acknowledge that there is a wide range of severity in the developmental disabilities experienced by individuals with chromosome 15q11.2-13.1 duplication syndrome. Two individuals with the same dup15q chromosome pattern may be very different in terms of their abilities. Reviews of the scientific literature do not show an obvious correlation between the size of the duplication region and the severity of the symptoms. However, the following features are found to some degree in most individuals with dup15q syndrome.

How You Can Donate 

Our donation of $1,000 goes towards supporting families, promoting awareness, and research. If you would like to donate, please click here.