Advances in Down Syndrome Research

October is Down Syndrome Awareness Month, and to close out the month, Sprout is highlighting some of the recent advancements in biomedical research being done at the Linda Crnic Institute for Down Syndrome.

Down syndrome, or Trisomy 21, is the most common chromosomal condition, occurring in approximately 1 out of every 772 births in the United States.¹ While most individuals have 23 pairs of chromosomes for a total of 46 – receiving half from each parent – individuals with Down syndrome have an extra full, or partial, copy of the 21^st chromosome for a total of 47 chromosomes.

People with Down syndrome may experience a wide variety of co-occurring conditions, such as increased instances of autoimmune disorders (e.g., alopecia areata and hypothyroidism), congenital heart defects, and Alzheimer’s disease, among others.

The Crnic Institute

The Crnic Institute, founded in 2008 and based on the Anschutz Medical Campus at the University of Colorado in Aurora, Colorado, is focused on their mission to improve the lives of people with Down syndrome through advanced biomedical research. They are the research affiliate of the Global Down Syndrome Foundation and  have the world’s largest geographical cluster of researchers, from a variety of fields, dedicated to the study of Down syndrome.

Clinical trials

One of the clinical trials currently being conducted by the Crnic Institute is focusing on the use of tofacitinib, a type of immunosuppressant known as a JAK inhibitor, to treat immune skin conditions in adolescents and adults with Down syndrome. The conditions being studied include: alopecia areata, atopic dermatitis, hidradenitis suppurativa, psoriasis, and vitiligo.

A new clinical trial focused on studying potential treatments for Down Syndrome Regression Disorder (DSRD), a rare and debilitating neurological condition, has just launched this October. Individuals with DSRD may experience symptoms such as catatonia, loss of speech, delusions, and a loss of ability to perform daily life activities. The Crnic Institute is exploring the effects of three different treatments for DSRD – lorazepam, intravenous immunoglobulin (IVIG) and tofacitinib.

Other projects

Other projects that the Crnic institute is working on include studies in Alzheimer’s disease and the Human Trisome Project™, which is focused on increasing the understanding of how the extra 21^st chromosome causes a different disease spectrum in people with Down syndrome.

For more information about the Linda Crnic Institute for Down Syndrome and their work in Down syndrome research, please visit: http://crnicinstitute.org/

Reference:

1. de Graaf G, Buckley F, Skotko B. People living with Down syndrome in the USA: BIRTHS AND POPULATION. May 2022. https://docs.downsyndromepopulation.org/factsheets/down-syndrome-population-usa-factsheet.pdf