Dr. Edgin will review the current state of our understanding of sleep problems and their related cognitive and behavioral deficits in Down syndrome.

Our research is focused on studying the cellular and molecular basis of human brain development and pathogenesis of neurological disorders by using human induced pluripotent stem cells (iPSCs). We have generated human iPSCs from individuals with Down syndrome (DS). I will introduce our recent research on creating iPSC-based in vitro brain organoid model and in vivo human-mouse chimeric brain model to investigate how aberrant gene expression in DS causes abnormal brain development and leads to early-onset Alzheimer's disease in DS.

Dr. Kong will discuss common problems related to nutrition and gastrointestinal health, such as obesity, diarrhea, and constipation frequently observed in the care of individuals with Down Syndrome. He will talk about primary and subspecialty care for those issues, current practices on screening and management. He will also discuss some of the challenges that he encountered in his clinical practice and his future research goals in Down Syndrome.

Trisomy 21 causes a number of developmental and cellular phenotypes in Down syndrome (DS), raising the critical question of which may remain amenable to correction after completed embryonic development. To begin answering this question, our lab generated a new model of inducible T21 silencing using XIST, the gene that also represses one of two X chromosomes in females. Because our XIST transgene remains inducible in post-mitotic T21 neurons and astrocytes, we can assess for the first time which cellular T21 phenotypes depend on ongoing HSA21 dosage imbalance in terminal cell fates.

Understanding the biology of how development and function differ in people who have three copies of chromosome compared to those with two copies is key to determining how some of those differences might be ameliorated.  New animal models with more similarities to people with Down syndrome will support continued advances in this area.

All individuals with Trisomy 21 have bone malformations, most observed in the face and stature. Mouse models of Down syndrome have provided important insights into how bone abnormalities develop. Mice have also contributed information about how we may be able to improve bone and other traits in individuals with Trisomy 21. We show how mice are an important partner to improve the lives of individuals with Down syndrome.

In this presentation we will describe findings indicating that Down syndrome is condition characterized by interferon-driven immune dysregulation. We will then describe the design of a clinical trial for Jak Inhibitors as a therapeutic strategy for autoimmune skin conditions in Down syndrome. Finally, we will present preliminary data from an interim analysis of this trial.

In this talk, Dr. Yang will discuss her research of spatial cognition in people with Down syndrome. Basic research in human cognition has important implications for understanding the thoughts and behaviors, designing better intervention and training programs, and promoting optimal development for people with Down syndrome.