Research

"Although the existence of 7q11.23 duplication syndrome has been hypothesized for decades, the first person who had this syndrome was not identified until late 2004. Research on 7q11.23 duplication syndrome began immediately, and as a result of this research, several features that appear to be characteristic of the syndrome have been identified."
"Our research is focused on the language, cognitive, social, and personality characteristics of infants, children, adolescents, and adults with 7q11.23 duplication syndrome and how these characteristics relate to the genetics of this syndrome.

We have several collaborators both at other universities and at the University of Louisville:

■Dr. Colleen Morris (University of Nevada School of Medicine): Genotype/phenotype relations in 7q11.23 duplication syndrome.  This project includes medical aspects of 7q11.23 syndrome as well as cognitive and behavioral aspects.  Dr. Ron Gregg (University of Louisville) and Dr. Lucy Osborne (University of Toronto) also are involved in this project. We are grateful to the many clinical geneticists and neurologists at other universities who have referred patients with 7q11.23 duplication syndrome to our research.

■Dr. Shelley Velleman (University of Massachusetts, Amherst): Speech characteristics of individuals with 7q11.23 syndrome, including appropriate types of intervention.

■Dr. Janet Woodruff-Borden (University of Louisville): Anxiety and behavioral problems.

■Dr. Cara Cashon (University of Louisville): Early face processing and language/conceptual development.

■Dr. Karen Berman (National Institute of Mental Health): We will soon begin neuroimaging studies of adults with 7q11.23 duplication syndrome. This project will focus on identifying the brain bases for some of the most distinctive characteristics of individuals with this syndrome.

Participation

If you are interested in participating in our research, please email Dr. Mervis at cbmervis-AT-louisville-DOT-edu (please put "7q11.23 duplication syndrome" on the subject line) or call Dr. Mervis at (502) 852-3604.

Our current study is focused on individuals of all ages (from infancy through adulthood). Funds to partially offset the travel expenses of families who participate in this study are available." 
- taken from: University of Louisville, Dr. Carolyn B. Mervis, website.

For more information about ongoing research projects, and to inquire about participation, please go HERE.  We would LOVE to have you particpate in the study.


Additional Research Articles