NEW YORK (GenomeWeb) – The Global Down Syndrome Foundation said today that drug developer Biogen has joined the Global Down Syndrome Foundation and the University of Colorado School of Medicine in a study exploring the genetics of Down syndrome and its link to Alzheimer's disease.
Biogen has committed more than $500,000 and additional in-kind resources to the effort, with another $1 million coming from the University of Colorado School of Medicine at the Anschutz Medical Campus — home to the Linda Crnic Institute for Down Syndrome — and a matching gift of $1 million from the Global Down Syndrome Foundation.
Called the Crnic Institute Human Trisome Project, the program involves a longitudinal and cross-sectional study of 1,000 individuals with Down syndrome and 500 typical controls, with the goal of uncovering alterations in the genome and epigenome of specific cell types that may inform the development of Alzheimer's disease or other disorders that affect the Down syndrome population at a different rate than they do individuals without Trisomy 21.
Researchers plan to sequence blood samples, and may also analyze saliva, stool, and other specimens from the cohort. So far, the HTP reports it has already enrolled nearly 300 participants over the last 11 months.
Joaquin Espinosa, executive director of the Crnic Institute and the principal investigator of the HTP, said in a statement that the effort is expected to fill in significant gaps in the scientific understanding of Down syndrome, and could hopefully contribute to the development of new diagnostic tools or therapies.
"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," he said.