Global Webinar Series Winter 2021

An Important Clinical Trial for People with Down Syndrome: Insights into Inflammation, Autoimmune Conditions, Quality of Life and More

Dr. Joaquín Espinosa
In this exciting GLOBAL Webinar Dr. Espinosa explained how inflammation can contribute to many developmental and clinical hallmarks of Down syndrome and the potential of immune modulatory therapies to have multiple benefits across the lifespan. He discussed a clinical trial at the Linda Crnic Institute for Down Syndrome testing the safety and efficacy of an immune modulatory medicine to counteract the hyper-inflammation observed in Down syndrome. This webinar also shared results about autoimmune skin conditions and other health outcomes impacted by inflammation. The webinar attracted 350 registrations from 44 states and 18 countries! They included Australia, Bahrain, Brazil, Canada, Germany, India, Iran, Iraq, Ireland, Italy, Japan, Kenya, Pakistan, Philippines, Puerto Rico, Spain, Sweden and the UK.

The presentation with audio as well as your questions and answers can be accessed using your GLOBAL Membership code. Not a Member? Join today! THANK YOU for supporting GLOBAL and our important work!

Powerpoint Presentation: Click to Download

For the past 25 years, Dr. Espinosa has investigated novel mechanisms of gene expression control and molecular signaling in human health and disease, making significant contributions to the fields of parasitology, cancer biology, hypoxic signaling, and most recently, trisomy 21. In 2013, he received pilot funding from the Crnic Institute to apply his expertise in functional genomics to the study of Down syndrome. These activities led to the discovery that interferon signaling is consistently activated in multiple cell types with trisomy 21.

Furthermore, Dr. Espinosa’s team recently reported the therapeutic benefits of JAK inhibition for autoimmune skin disease in Down syndrome, leading to the recent approval of the first clinical trial for JAK inhibition in Down syndrome.

In 2016, Dr. Espinosa launched the Crnic Institute’s Human Trisome Project (HTP,, arguably the deepest and one of the largest cohort studies of people with Down syndrome to date. In just three years, the HTP has enrolled 690+ participants, 460+ of them with trisomy 21, generated diverse multi-omics datasets for subsets of these participants, and created the first-ever online platform to explore the impact of trisomy 21 on these multidimensional datasets, called the TrisomExplorer.

This webinar is one of the many benefits associated with Global Down Syndrome Foundation Membership. Learn more about GLOBAL’s award-winning magazine, Down Syndrome World™, and how to become a GLOBAL Member today.

If you have a family member or dear friend with Down syndrome, this webinar is for you! Not a Member? Join today! THANK YOU for supporting GLOBAL and our important work!

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GLOBAL Webinars Archive