A Day of Breakthroughs: Crnic Institute Down Syndrome Research Symposium

This year’s Crnic Institute Down Syndrome Research Symposium was a celebration of discovery and collaboration, featuring insightful presentations and exciting new research from experts across the field. 

The Crnic Institute was honored to have Dr. Ivan Moskowitz, MD, PhD, professor of pediatrics, pathology, and human genetics at the University of Chicago, as the first keynote speaker. Moskowitz' talk on “Altered Hedgehog Signaling in Trisomy 21 Organ Progenitors” offered a deep dive into the developmental pathways affected by Down syndrome, setting the tone for a day of engaging and thought-provoking discussions. 

The day wrapped up with a second keynote presentation from Dr. Marius Linguraru, DPhil, MA, MSc, professor of radiology and pediatrics at George Washington University and principal investigator at Children’s National Hospital, on “Digital Genetic Screening for Diverse Populations and Resource Settings.” Linguraru's work highlighted how innovative technologies can make genetic screening more accessible and inclusive, a key consideration for future research and care. 

The Crnic Institute would like to extend a heartfelt thanks to all speakers for their invaluable contributions: 

• Dr. Deirdre Logsdon, PhD (CU Boulder): “Defining the Link Between Trisomy 21 and Placentation Defects” 

• Abby Cozart (PhD Candidate, CU Anschutz): “Altered TNFɑ Signaling in Down Syndrome” 

• Dr. Regie Santos-Cortez, PhD (Associate Professor, CU Anschutz): “Otitis Media Microbiome and Down Syndrome” 

• Dr. Joaquín Espinosa (Professor, CU Anschutz): “Multidimensional Analysis of Dysmorphogenesis in Down Syndrome” 

• Arwen Jackson, MA CCC-SLP (Speech Language Pathologist, Sie Center): “Dysphagia and Down Syndrome: How Clinical Research is Shaping Care” 

In addition to innovative research talks, the symposium included presentations from the Global Down Syndrome Foundation, a nonprofit organization dedicated to improving the lives of individuals with Down syndrome through research, medical care and advocacy.GLOBAL’s mission is to advance scientific discoveries, provide quality health care and promote inclusion and education for people with Down syndrome. Abigail Frary, a self-advocate, presented with Bryn Gelaro, MA, Vice President of Research & Medical Care from GLOBAL.  

Each year, the event includes a poster session that allows collaboration across the research community, and attendees vote for their favorite posters to celebrate the work of their colleagues. 

Congratulations to this year’s poster session winners! 

First Place: Michael Ha, MS, Department of Ophthalmology, CU Anschutz, for “Uncovering Developmental Abnormalities in the Trisomy 21 Retina Using Patient-Derived Organoids” 

Second Place: Janelle Posey, MS, CU Anschutz, for “Platelet Activation is Exacerbated in Down Syndrome Independent of IFNR Copy Number” 

Third Place: Lauren Dunn, PhD candidate, CU Anschutz, for “Altered Bile Acid Metabolism in Down Syndrome” 

The Crnic Institute team thanks all speakers, presenters and attendees for making this year’s symposium such a success and looks forward to what the next year holds for Down syndrome research.