Boosting Research With a Down Syndrome Biobank

Certain conditions such as congenital heart disease, childhood leukemia and epilepsy are more common in patients with Down syndrome than in the general population. Other conditions, including solid mass tumors such as breast cancer and prostate cancer, high cholesterol and atherosclerosis are less common. Studying these conditions in the context of Down syndrome genomics will have implications for everyone.

A new biobank, the first in the nation dedicated to Down syndrome, at Nationwide Children’s Hospital will create the opportunity to advance translational and genomic research not only in Down syndrome but also in related conditions.

Perhaps one of the most intriguing comorbidities in patients with Down syndrome is Alzheimer’s disease. The chromosome that is duplicated in people with Down syndrome — chromosome 21 — is also the chromosome that houses the gene for amyloid precursor protein (APP), which is implicated in Alzheimer’s disease.

According to the Alzheimer’s Association, autopsy studies show that by age 40, nearly 100 percent of people with Down syndrome have Alzheimer’s pathology. However, 20 to 25 percent will not go on to develop Alzheimer’s disease.

“Why some people with Down syndrome have Alzheimer’s pathology — brain plaques and tangles and abnormal proteins — but don’t develop the disease has been very difficult to study to date,” says  Lito Ramirez, founder of DownSyndrome Achieves, the organization partnering with Nationwide Children’s Hospital to establish the biobank, and proud parent of a son with Down syndrome. “But with a biobank of Down syndrome blood samples, scientists doing Alzheimer’s research will have better opportunities to answer this question.”

According to Ramirez, a biobank dedicated to Down syndrome has been a long time coming.

“Biobanks have been around since the 1990s,” says Ramirez. “Nearly every research category except Down syndrome has had a centralized biobank. Now, we are able to support researchers by providing a national, centralized repository of Down syndrome samples.”

“Although Down syndrome affects approximately 250,000 Americans, it is one of the least funded research areas at the National Institutes of Health. It ranks in the bottom 20 percent of funding categories — much lower than cystic fibrosis, cancer and other genetic disorders,” continues Ramirez.

Initially, the biobank will store blood samples from Nationwide Children’s. “We are looking to partner with more institutions in the near future,” says Daniel Coury, MD, chief of Developmental/Behavioral Pediatrics at Nationwide Children’s.

At Mass General Hospital Down Syndrome Program, translational and clinical researchers are investigating several conditions that accompany Down syndrome, including obstructive sleep apnea, thyroid disease and celiac disease.

“A biobank provides researchers with the potential to unlock some of the mysteries associated with Down syndrome,” says Brian Skotko, MD, MPP, a medical geneticist at MassGeneral Hospital for Children and director of the Down Syndrome Program. “Currently, researchers do not have readily available and curated blood and tissue samples to advance our understandings of the conditions that co-occur with Down syndrome.  I am excited that the Down syndrome community will have this national resource, which is long overdue.”

The biobank will be housed in the Nationwide Children’s Biopathology Center (BPC), which also houses the biobank for the Children’s Oncology Group, the Cystic Fibrosis Therapeutics Development Network and the Nephrotic Syndrome Study Network, among others.

“This is a prime example of how we are using our expertise in biobanking to help researchers everywhere do clinical and translational research,” says Dr. Coury.