Global Down Syndrome Foundation announces new collaboration for groundbreaking Down syndrome – Alzheimer’s disease research project

$2.5 million initial commitment to launch project

DENVER –The Global Down Syndrome Foundation today announced that Biogen, a neuroscience leader has joined the Global Down Syndrome Foundation and the University of Colorado School of Medicine in a groundbreaking project that explores the connection between Alzheimer’s disease and Down syndrome.

The Crnic Institute Human Trisome ProjectTM (HTP) is an ambitious longitudinal and cross-sectional study that will recruit 1,000 individuals with Down syndrome (also known as Trisomy 21) and 500 typical individuals. Scientists and clinicians will sequence and study several layers of genomics information (all de-identified) from a single sample of blood. Saliva, stool and other samples are also being collected. The Crnic Institute HTP has already begun to significantly increase the speed of Down syndrome research and has enrolled nearly 300 participants in the first 11 months.

“People with Down syndrome have a different disease spectrum,” said Dr. Joaquín Espinosa, executive director of the Crnic Institute, and the principal investigator of the Crnic Institute HTP. “The Crnic Institute HTP will allow us to redefine Down syndrome from the least scientifically understood condition to one of the best understood conditions. In addition, it will provide unprecedented understanding of Alzheimer’s disease, autoimmune conditions, cancers and other medical conditions that people with Down syndrome are either very predisposed to or protected from, eventually enabling the development of new diagnostic and therapeutic tools.”

“This research will serve first and foremost people with Down syndrome, but also the millions of individuals without Down syndrome who are affected by the many medical conditions modulated by trisomy 21,” said Espinosa.

Biogen has committed more than $500,000 and additional in-kind resources to the Crnic Institute HTP to investigate the genome and epigenome of specific cell types in the blood that could inform the development of Alzheimer’s disease. This initial investment is being financed with funds from Biogen and $1 million from the University of Colorado School of Medicine at the Anschutz Medical Campus – home to the Linda Crnic Institute for Down Syndrome – with a matching gift of $1 million from the Global Down Syndrome Foundation.

“Down syndrome is still one of the least funded genetic conditions of the federal government, so we are extremely grateful for the commitment from CU and Biogen,” said Michelle Sie Whitten, president & CEO of the Global Down Syndrome Foundation. “This is just the beginning as we hope to attract other biopharmaceutical organizations and philanthropists committed to improving the lives of people with Down syndrome and other conditions.”

“The School of Medicine provides a home for outstanding biomedical research that leads to improved care for all,” said Dr. John J. Reilly, Jr., vice chancellor for health affairs and dean of the University of Colorado School of Medicine. “We are confident that this investment will have a significant impact on our understanding of the health of people with Down syndrome and that it will lead to discoveries informing the care we provide.”

“Our son is 38 years old and we are concerned that he may get Alzheimer’s,” said Jack and Penni Dorwart, whose son participated in the Crnic Institute HTP.  “We also know that if we have high- quality research that there is the potential to significantly improve not only our son’s life but millions of others with Down syndrome who have many other medical issues that prevent good quality of life. That is why we participated in this study and we encourage others to do the same. We are grateful to the Crnic Institute and the Global Down Syndrome Foundation for taking on this difficult work and advocating for our children and adults.”

Learn more about in the Crnic Institute Human Trisome ProjectTM or sign up to participate in the study.

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