Global researchers, including many from the Human Trisome Project, presented new findings at the T21RS International Research Conference.
Dr. Joaquín Espinosa was invited to present The Human Trisome Project at an executive breakfast sponsored by Global Down Syndrome Foundation.
Parent and advocate Mardra Sikora explains why The Human Trisome Project is important to her and her loved ones with Down syndrome.
Sullivan KD, Lewis HC, Hill AA, Pandey A, Jackson LP, Cabral JM, Smith KP, Liggett LA, Gomez EB, Galbraith MD, DeGregori J, Espinosa JM. Trisomy 21 consistently activates the interferon response. eLife 5:e16220 (2016).
In the latest publication from the Espinosa Lab, Sullivan and colleagues demonstrate that trisomy 21 activates interferon signaling. The team's important findings were summarized in the journal eLife:
"Four genes in chromosome 21 encode proteins that recognize signal molecules called interferons, which are produced by cells in response to viral or bacterial infection. Interferons act on neighboring cells to regulate genes that prevent the spread of the infection, shut down the production of proteins and activate the immune system. Sullivan et al show that cells with trisomy 21 produce high levels of genes that are activated by interferons and lower levels of genes required for protein production. In other words, the cells of people with Down syndrome are constantly fighting a viral infection that does not exist."
Based on this work, the Espinosa lab is continuing to investigate the contribution of interferon signaling to many of the clinical impacts of trisomy 21.
UPDATE 9/6/16: The Espinosa lab is excited to announce that our publication was highlighted in an eLife Insight article by John Crispino, Professor of Medicine at Northwestern University.
Dr. Joaquín Espinosa, Associate Director for Science at the Linda Crnic Institute for Down Syndrome, contributes to the Huffington Post. Some of his recent articles on Down syndrome are shown below.
Did you know that March 21st is internationally recognized as World Down Syndrome Day? Just a few decades ago, Americans believed that people with Down syndrome did not have the right to live at home, go to school, be in a public place, or go to a restaurant. Today, we are proud to make Down syndrome and related co-morbidities the focus of our research. Click here to read more about how studying trisomy 21 can benefit everyone.
Remarkably, people with Down syndrome have an increased incidence of leukemia (cancer of the blood cells) but a much lower incidence of solid tissue tumors like lung or breast cancer. What is it about the extra copy of chromosome 21 that protects them from solid tumors but predisposes them to blood cancers? Click here to read more about how our friends and relatives with Down syndrome are, even if unintentionally, enabling discoveries about how cancers develop and how to combat them.