Sullivan, Kelly D PHD

INCLUDE Grants​

Defining the Role of DNA Rereplication of Chromosome 21 in the Development and Pathophysiology of Down Syndrome

Black, Joshua CranstonSullivan, Kelly D

This project will test the transformative hypothesis that dysregulated DNA rereplication in response to cellular stress contributes to the development of Trisomy 21 (T21) and subsequent pathophysiology of Down syndrome (DS). This project arises from the observation the interferon receptor cluster encoded on chromosome 21 undergoes DNA rereplication and targeted transient site-specific gene amplification in response to viral infection in healthy cells; however, this process is impaired in T21 cells. To test our hypothesis, we will employ a combination of human and mouse culture models and a mouse in vitro fertilization model to define the extent of DNA rereplication dysregulation in T21 and how DNA rereplication could contribute to the development of T21 and comorbidities associated with DS.

Defining the Role of Enteric Nervous System Dysfunction in Gastrointestinal Motor and Sensory Abnormalities in Down Syndrome

Belkind Gerson, JaimeFrank, Daniel NSullivan, Kelly D

Individuals with Down syndrome are predisposed to a wide range of co-occurring conditions, including many gastrointestinal conditions. This proposal will test the hypothesis that innate alterations in inflammation, metabolism, and the microbiome result in enteric nervous system dysfunction that drives these conditions. Insights from these studies could not only increase our understanding of gastrointestinal disease in Down syndrome, but also identify new therapeutic strategies for their management.

Down Syndrome Publications​