Projects and Clinical Studies

Calling all 7q11.23 Duplication Families!!!

The Geisinger Autism & Developmental Medicine Institute would like to invite our DUP7 families to participate in an online research study. Children and adults with the following deletions and duplications are eligible to participate, along with their biological family members:

1q21.1	3q29	7q11.23
15q11.2-q13.1	15q13.3	16p11.2
16p11.2 distal	16p12.2	17p11.2
17q12	17q21.3	22q11.2

Individuals with these genetic changes have many things in common, but they do not all share the same challenges. This study is trying to better understand these differences. Participation includes completion of several online surveys that ask questions about social skills, family medical history, behaviors, and sleep. You may also be asked to provide a saliva sample. You will be compensated for your participation. If your family wishes to participate or find out more information, please contact Karahlyn Holdren, Project Coordinator, at (570) 522-6295 or keholdren@geisinger.edu.

7q11.23 Duplication Families have been invited to join the Simons Searchlight Research Project, dedicated to advancing the science of genetic changes related to Autism and related disorders. Simons Searchlight is conducting an ongoing project in which they create a database of affected family groups that will serve to connect researchers and family cohorts for future studies.

Please note that an Autism diagnosis is not required in order to participate. The only requirement for our families is a Duplication 7q11.23 diagnosis in yourself or an affected family member. The project is open to families living within the USA and internationally. 

In addition to generating research and promoting awareness of Dup7, building a relationship with the project can help facilitate the efforts of Duplication Cares in increasing connectedness and support among our members.

Information and online enrollment registration can be found at https://www.simonssearchlight.org/ — Click on “Research Opportunites.”

Click here for a printable brochure. (Content provided by Simons Searchlight | ©2019 Simons Foundation)

Please join today! The more families we can enroll, the more we all stand to gain! 

If you participate, all you will be asked to do is complete some telephone interviews and online surveys. You will not be required to travel or to do anything in person. Simons Searchlight is sharing all information with any medical professionals interested in studying the 7q11.23 duplication.

This is an exciting opportunity for our families!