Have your child’s genetic sample used in research – 2025 dates and locations are now confirmed
Over the past 2 years we have partnered with COMBINEDBrain to collect BBSOAS bio samples (e.g. blood), to be used for research projects.
COMBINEDBrain are back on the road in the US again this year and will be at the locations below.
Our goal as a foundation is to collect as many BBSOAS samples from our community as possible. The more we collect, the more we learn about BBSOAS.
2025 Dates and locations
· Nashville, TN April 24-25th
· Westminster, CO June 14-15
· St Louis, MO June 18-21
· Phoenix, AZ June 27-28
· Boston, MA July 10-11
· Denver, CO July 18-19
· Westminster, CO July 19-20
· Windsor Locks, CT July 19-20
· Philadelphia, PA Sept 24-27
· Atlanta, GA Dec 4-5
Frequently Asked Questions
What is a biorepository? A biorepository is a facility that collects, catalogs, and stores samples of biological material (e.g. blood samples) for laboratory research.
Why are biorepositories important?
Did you know the research and medical community use samples from biorepositories for research studies? We want to make sure BBSOAS is represented in as many studies as possible and that means having samples from our community readily available. For a disorder like BBSOAS there is potentially more variability than some other disorders due to the range of phenotypes and the genetic variants, so we need as many as possible.
If I have participated in the past, should I do it again?
YES! We need to refresh the supply – this is a consumed resource and so we need to periodically add more samples to replace those that were used for research. Repeat samples from the same donors also creates longitudinal samples. This allows a person to serve as their own “control” for research
I don’t live near these locations, can I still participate?
We know families around the world want to participate. For now, we can only collect biorepository samples in the United States at the locations listed. But we are working on this and will let you know once we have a solution to collect in other countries.
This year we are not able to organise any ‘at home’ collections, because of the high cost to the foundation.
Interested in participating in research? Email us! Jennifer.Coughlin@nr2f1.org I will get you registered and share next steps.
Then on the day you simply walk into the designated hotel and follow the signs to the collection room.
How much does it cost to provide a sample at these locations? It’s FREE!
Carlie is the Vice President of the Board of Directors for the NR2F1 Foundation, a registered 501(c)(3) non-profit organization dedicated to those living with rare mutations on the Nr2f1 gene.
With a B.S. in Special Education and a M.S. in Counseling, Carlie has worked at EPU Children’s Center as a Resource Specialist serving parents of children living with disabilities and then directed a parent leadership group for disability advocacy through storytelling and public speaking.
Carlie lives with her husband Jeff and their two daughters, one of whom has the rare Nr2f1 gene mutation, in Royal Oak, Michigan. She wants all Nr2f1 families whose lives have changed dramatically to know they are not alone.
