COMBINEDBrain Biorepository: A comprehensive approach to speed research for rare diseases

COMBINEDBrain puts advocacy groups in the driver's seat in the race to cure rare neurodevelopmental diseases. Patient advocacy foundations representing more than thirty rare genetic neurodevelopmental disorders join forces as part of COMBINEDBrain to make it faster to do research on their disorders. The COMBINEDBrain Biorepository is one crucial part of a comprehensive approach to speed translational research for these severe conditions.

"Our foundation and families from all over the world are energized about donating to this biorepository, thus moving research into a higher gear, not only for us but all the members of COMBINEDBrain." Bo Bigelow, Foundation for Hao-Fountain Syndrome

"It is a blessing to have the CB Biorepository available to our community. Setting this up by ourselves would be a strain on our limited financial and volunteer resources. It's a classic example of the value of COMBINEDbrain for rare diseases." Mike Graglia, SYNGAP1 Research Foundation

The COMBINEDBrain Biorepository is unique, allowing patient advocacy groups to govern distribution of samples, while providing privacy to families, and confidentiality to researchers. Patient advocacy foundations recruit participants using IRB approved materials, families give consent via zoom, and a mobile phlebotomist is dispatched to the home of the patient.

"COMBINEDBrain works with a team of mobile phlebotomists which makes it much easier to arrange blood collection, as this can be done at the child's home, with very little disruption to the child's routine." Nuala Summerfield, The Schinzel-Giedion Syndrome Foundation

"The process for collecting samples from patients has been really easy thanks to the efforts of the COMBINEDBrain biorepository team. It's been a huge relief to get such good feedback from participants and their families about their experiences, starting with the initial informed consent meeting all the way through to sample collection using mobile phlebotomy services. Thank you COMBINEDBrain for listening to the needs of the patients and making this process work for them." Christal Delagrammatikas, Malan Syndrome Foundation

The development of new therapies is dependent upon identifying molecular pathways and testing compounds in cellular models of disease made from donated patient biosamples. These biological samples may include blood, skin biopsies, cerebrospinal fluid, urine, saliva or other tissues which are cataloged and stored at the Infinity Biologix (IBX) facility in New Jersey. The COMBINEDBrain Biorepository serves as a centralized location for researchers to easily access biosamples across multiple rare diseases simultaneously

Scientists at IBX isolate fibroblasts from skin biopsies as well as peripheral blood mononuclear cells (PBMCs) from blood samples to produce induced pluripotent stem cells (iPSCs). The COMBINEDBrain Biorepository can also isolate and store the buffy coat layer in blood samples for researchers interested in alternative cell types. These samples are distributed to researchers and industry upon request, at the lowest possible cost.

"We understand the importance of every sample so we're incredibly proud to have been chosen by COMBINEDBrain as their partner for iPSC generation and biobanking for these hugely important samples and the work we are doing together. Our expertise in biobanking stretches back over twenty years and the IBX team is excited to be bringing the benefits of this experience to COMBINEDBrain." Robin Grimwood, IBX CEO

Health histories from patients who have donated biological specimens is critical for proper interpretation of biological data, and will be made available to interested researchers, with identifying information removed. All clinical information is maintained on a HIPAA-compliant, encrypted database.

I am proud of the work our team has done. We very recently launched, but we have already banked more than 50 samples! As a neuroscientist and the parent of a son with Angelman syndrome, I know that real blood, sweat and tears will lead to treatments for families like mine."

Terry Jo Bichell, MPH, PhD, Founder/Director, COMBINEDBrain

At this time, participants must be located in the United States, but a European site is projected in 2022. The COMBINEDBrain Biorepository team includes Dr. Anna Pfalzer, Dr. Kyle Horning, and Taylor Morris, Biorepository Administrator.