Department of Biology
Center for Regenerative Biology and Medicine
Skeletal and cognitive deficits associated with Down syndrome
All individuals with Down syndrome (DS) display skeletal and cognitive deficits. Our research seeks to understand the genetic and developmental bases for skeletal and cognitive phenotypes associated with Trisomy 21. The lab is defining the origin and advancement of DS skeletal malformations including the typical craniofacial features, and the appendicular skeleton resulting in short stature, weaker bones and a predisposition to osteoporosis. We are examining spatial and temporal expression of trisomic genes as well as others throughout the genome and correlating this information with DS phenotypic and developmental alterations. We have established a sexual dimorphism in the development of DS skeletal deficits, with males experiencing deficits earlier and in different ways than females. Ongoing preclinical studies in mice test treatments that target trisomic gene products to improve skeletal as well as cognitive-related DS traits. Although many people with DS consume green tea extracts and Epigallocathechin-3-gallate (EGCG), we have shown that EGCG treatment does not target the trisomic gene Dyrk1a and largely does not correct cognitive and skeletal deficits associated with DS. We have also collaborated with clinicians and published important studies on feeding and obstructive sleep apnea in infants with DS. Our long-term goal is to apply the knowledge of how and when trisomic genes affect developmental processes to diagnose and ameliorate cognitive and skeletal Trisomy 21 phenotypes.