Autoimmune Disorders and Down Syndrome

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What is the connection between Down syndrome and autoimmune diseases? Will everyone with Down syndrome develop an autoimmune disease? Can studying people with Down syndrome lead to progressive understanding of diseases affecting the typical population?

Two Internationally-renowned scientists – Richard Spritz, MD, Program Director of the University of Colorado School of Medicine Human Medical Genetics & Genomics Program and 2013 Linda Crnic Institute Grand Challenge Grant Recipient and Joaquín Espinosa, PhD, Associate Professor of Molecular, Cellular and Developmental Biology at University of Colorado Boulder, Co-Leader of the Molecular Oncology Program at University of Colorado Cancer Center, and Director of the Functional Genomics Facility at CU Boulder, will cover these questions and more.


Dr. Joaquín Espinosa

Dr. Joaquín Espinosa is the Executive Director for Science at the Linda Crnic Institute for Down Syndrome. 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 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.


PDF Presentation: Click to Download Dr. Espinosa’s Presentation

Dr. Joaquín Espinosa

Over the past 40 years, Dr. Spritz and his associates have studied genes involved in causing many different human diseases, including hemoglobin disorders, albinism and other skin diseases, autoimmune diseases such as vitiligo and thyroid disease, and cleft lip/palate, and published over 250 papers on these studies. For his work, Dr. Spritz has received many honors and awards, including the first annual research award from the Society for Pediatric Dermatology, the Research Achievement Award from the American Skin Association, the Alumni Fellow medal from the Pennsylvania State University, the Tanioku Kihei memorial lectureship from the Japanese Society for Investigative Dermatology, and both the Seiji award and the Takeuchi Medal from the International Federation of Pigment Cell Societies.


PDF Presentation: Click to Download Dr. Spritz’s Presentation

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