Waisman BioLibrary: Building a database to boost genetic research on intellectual and developmental disabilities now and for the future

Young man with down syndrome.

By Charlene N. Rivera-Bonet | Waisman Science Writer

The Waisman BioLibrary is a Waisman Center initiative with incredible potential to advance our knowledge about the genetics and health of individuals with intellectual and developmental disabilities and neurodegenerative diseases through the creation of a repository of DNA and health information.

Our DNA or genetic material is a fount of information. It provides the instructions needed for our bodies to develop and function. Thus, it can be a powerful tool to help better understand intellectual and developmental disabilities and other conditions by looking at how genes are altered.

Qiang Chang
Qiang Chang, PhD

The creation of the Waisman BioLibrary was initiated by Waisman Center director, Qiang Chang, PhD, professor of medical genetics and neurology in 2019 with funding from the National Institutes of Health (NIH) INCLUDE Project (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndrome). INCLUDE is in response to a federal directive for a trans-NIH research initiative on critical health and quality-of-life needs for individuals with Down syndrome. INCLUDE will investigate conditions that affect individuals with Down syndrome and the general population, such as Alzheimer’s disease/dementia, autism, cataracts, celiac disease, congenital heart disease and diabetes.

The end goal is to build a collection of information for multiple disorders, the first one being Down syndrome. The Waisman BioLibrary, is close to achieving the original goal of enrolling 100 children with Down syndrome ages 0-17.  “The bigger picture for the BioLibrary is that, with additional funding secured, it will be able to enroll individuals with developmental disabilities and neurodegenerative diseases of all ages and with a variety of disabilities,” says Carrie Arneson, associate director of the University Center for Excellence in Developmental Disorders. At the time the BioLibrary was created, Arneson was manager of the Clinical Translational Core, where the BioLibrary is housed, and was tasked with developing the protocols to make the BioLibrary happen.  She met virtually with all of the families and supported their participation prior to taking her new position. She remains in a consultative role to ensure success of the initiative. “We can’t do this without our champion families and we are grateful for their dedication and efforts. It was an absolute joy to meet with all of the families and I was motivated by their enthusiasm and stories about their journeys around the topic of health,” says Arneson.

BioLibrary LogoFor Chang, the benefits of having this resource is twofold. “For the research side, having biospecimens from patients and from research participants is going to expand the dimension of research. You’re not only studying behavior, you can get their DNA sequence,” Chang says. “Beyond research, it’s a way to further engage and connect with our community.”

Currently, genomic DNA is obtained using saliva samples from those who participate and DNA from blood will be possible in the near future. This genetic information can then be integrated with data from other sources, such as electronic health records, to start looking at relationships between genes and health. But that is only the beginning. “In the future, there’ll be new tools, new technologies developed and then you could use the same material for something we don’t even know just yet,” Chang says.

Initially, the recruitment strategy involved individuals coming to the Waisman Center to provide saliva and blood samples, and take cognitive, memory, and learning tests while parents completed questionnaires on their child’s abilities and behaviors. “We had our first visit set up for the end of March of 2020. And then everything got shut down because of COVID,” Arneson says. “We had to spend the summer pivoting to figure out how to do it remotely, and basically relaunched the biolibrary at the end of the year.” They have been enrolling participants remotely since, with plans to have options for in-person participation in the future, as well.

Currently, participation occurs mainly via mail and online. Participants receive saliva collection kits with instructions and send them back to the Waisman Center. Parents access questionnaires online and by packets sent in the mail. Each family receives up to $90 in compensation for their remote participation.

Carrie Arneson
Carrie Arneson

The primary sources of recruitment has been the Waisman Center Down Syndrome Clinic, Waisman Center Research Registry, outreach at community events, and inquiries from families in the community. The unexpected pivot to remote participation was ultimately beneficial, as it opened up opportunities for families across the nation to participate.

Once the samples are received at the Waisman Center, DNA is extracted in-house then sent out for sequencing elsewhere.  There are also future opportunities for genetic and health information from the Waisman BioLibrary to be submitted into national repositories, which will compile information from similar projects across the nation. “This is particularly exciting, as there is power in numbers in understanding the relationships between genetics and health for individuals with disabilities,” says Arneson.

The target of the launch of the BioLibrary is to enroll 100 children with Down syndrome, and they are well on their way with a total of 88 families enrolled. The BioLibrary is still recruiting participants and plans to extend their recruitment past the initial 100.  Anyone interested in participating can fill out this interest form.

“This is really just in its infancy,” Arneson says. “But it’s really launching a long-term effort to be a biobank host that recruits individuals with disabilities to provide genetic information so we can advance genetic research. That’s the ultimate goal.”