Because so little is understood about disorders that involve developmental and behavioral disabilities associated with chromosomal disorders, we are using some new research tools to investigate the function of cells from individuals with 2q23.1 deletion syndrome and 2q23.1 duplication syndrome. 

You are invited to participate in a research study involving the donation of somatic cells. Somatic cells make up most of the body’s tissues and organs such as the blood, brain, liver, or skin. In this study, we are collecting skin cells for the purpose of developing cell lines for research purposes. We hope to learn how cells develop and function differently in different genetic conditions, with the long-term goal toward improving cellular function and outcomes for persons affected by genetic disorders.

This study requires a skin biopsy, a small piece of skin (~3 mm) to be removed from your forearm or other area of skin.  From the skin sample, we can isolate individual cells and continue to grow them in culture.  We will then treat these cells in the dish to become a type of stem cell, which will allow us to turn the skin cell into a neuron.  We can then study the neurons of the person with the genetic condition, like 2q23.1 deletion syndrome, to understand how the neurons are working differently than in a typically developing person.

As part of this study, we also need to recruit unaffected individuals as controls and for comparison.  Typically, these individuals are parents or siblings of the person with the genetic condition.  If you are interested in participating on this study, please contact Dr. Sarah Elsea from Baylor College of Medicine directly, elsea@bcm.edu