Get to Know Dup15q Alliance
About Dup15q Syndrome
Chromosome 15q11.2-13.1 duplication syndrome (dup15q syndrome) is a clinically identifiable syndrome which results from the duplication (or multiplication) of a portion of chromosome 15. It can span past these bands but must contain the 11.2 – 13.1 region to be identified as Dup15q Syndrome. 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). The first cases were identified in the mid 1990s and as access to genetic testing and genetic testing types grow, patients are being identified more often than ever. It is currently estimated to occur 1 in 8,000-10,000 live births.
Dup15q Syndrome Clinical Features
Dup15q Syndrome is characterized by having an extra copy of a portion of chromosome 15 in the 11.2 – 13.1 region in combination with a number of symptoms that may include, hypotonia, epilepsy, cognitive delay, motor delays, autism, similar facial features. 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.
Get to Know Dup15q Alliance
Dup15q Alliance provides family support and promotes awareness, research and targeted treatments for chromosome 15q11.2-13.1 duplication syndrome. Through our work to raise awareness and promote research into chromosome 15q duplications, we seek to find targeted treatments so that affected individuals can live full and productive lives. Together with our families, Dup15q Alliance is working towards a better tomorrow for children with chromosome 15q11.2-13.1 duplication (dup15q) syndrome.
Dup15q Alliance is a nonprofit 501(c)(3) corporation. The community that is now known as the Dup15q Alliance was originally founded under the name of IsoDicentric 15 Exchange, Advocacy and Support (IDEAS) in 1994 by Donna Bennett, mother to Joshua (a young man with idic15) and Brenda Finucane, MS, CGC the Director of Genetic Services at Elwyn Inc. Starting as a list of 13 families raising children with chromosome 15q duplications, the support group grew.
In 2004, the IDEAS community was officially incorporated into a nonprofit organization. To best reflect the variations of the disorder known as chromosome 15q11.2 – 13.1 duplication syndrome, the organization’s name was changed in 2011 to Dup15q Alliance. Today, there are over 2,000 families internationally are affiliated with Dup15q Alliance.
I am especially proud of ...
This is tough to narrow down as I am so proud of all the programs that the Dup15q Alliance brings forward, from Education and Outreach, our conferences, our 15q Clinical Research Network, our Research Fellowship program, but I would have to say it is our community, the families themselves. The families with whom I interact with every day. I always say that dup15q syndrome chooses families and is not chosen by anyone, but each family I talk to rises to the occasion and the burdens that come along with it in a different way, their way. Each one inspires me in a differently. The way that they can get involved in the organization and the community and support each other while going through something that affects every aspect of their life is really inspiring. That keeps me going. I want to make their lives better. I want to make their lives easier. I want their kids to be the best that they possibly can be, and I want them to do it in a way that they can thrive.
Excited to REN because...
To help ensure the Dup15q Alliance community's understanding the larger picture and our role in that larger picture and to enable dup15q families to see the forest for the trees, understanding when the trees are important and when to focus on the forest. Collaborating in the larger epilepsy space is so important to make change, to help keep our organization at the forefront of research, medical care, and education, knowing as things are coming out, then knowing where they can apply to our community versus where they can’t apply to us and where we need to push harder and ensuring we have a seat the table where appropriate. We’re active and engaged with groups like REN while keeping the heart and soul of the dup15q syndrome mission.
My journey and motivation...
My background is actually in child development, and specifically neuroscience in child development, so I started my career studying EEGs and how brains are different in children who grow up to be non-neurotypical. I did that for about 12 years, and after I had my third child, I decided that I was going to take a little bit of time off and during that time I worked for another non-profit that I help found. In that time, while helping the other non-profit, I was consulting with different research groups that were starting rare disease research. Research on rare disease can be quite expensive, and sometimes researchers can get caught up in the question they want to answer, and not necessarily how to get there. You need to take into account the symptomology of the population and what research methods they can complete. I went in and helped them evaluate their research methods to ensure things were in place to answer their research questions. If you’re spending a lot of money bringing in a whole family and using research methods to answer questions that could never be completed by most families, it’s going to be frustrating for the researchers and families and will not lead to timely results. During that time, I consulted on a project with Dup15q. I went to their conference and collected some EEGs with a collaborator out of UCLA and really enjoyed it. I had a bit of experience with rare disorders prior to leaving research, but that’s really where I got my passion for rare diseases specifically. So when the executive director for the Dup15q Alliance retired, she called me and said, “I think you’d be a good fit for this.” A couple of the people from the community reached out as well, and I applied, and that’s how became the executive director of the Dup15q Alliance.
By Vanessa Vogel-Farley, Executive Director