Donate blood samples to the Global Blau Patient Biobank!
The Cure Blau Syndrome Foundation is excited to partner with Coriell, a world leader in biobanking (the collection of biosamples for research purposes) to collect and store cells from patients with Blau syndrome. Your samples will be accessible by researchers worldwide accelerating fundamental research into Blau syndrome with the goal to expedite drug discovery.
The NIGMS Repository at Coriell is regarded as the most diverse collection of cell lines and DNA available to the international research community. For nearly 65 years, Coriell has set the gold standard in biobanking services, including the collection, processing, distribution, cryogenic preservation, and information management of human biomaterials used in research. By developing and maintaining biorepositories as national and international resources for the study of human diseases, Coriell is committed to providing the scientific community with well-characterized, cell cultures and DNA preparations, annotated with rich phenotypic data.
Who can donate samples? Individuals may donate samples on their own behalf by working directly with Repository staff; however, the individual must initiate contact with the Repository and indicate his or her interest in donating a sample. Any clinician or investigator with access to Blau patients is eligible to submit samples to the Repository. Investigators with existing cell lines from previous studies may also donate samples.
How do I donate samples? Patients should contact the NIGMS Repository at NIGMS@coriell.org to let them know you are interested in donating blood, skin biopsy tissue, or both. They will walk you through the process and send you a sample collection kit. The kit has everything you need to safely store and send your sample back to the biobank, including the blood or skin tissue tubes, a pre-paid shipping label, and all the required paperwork. They also accept donations from family members of an individual affected by Blau syndrome, as long as the affected person is also submitting a sample. Second, you’ll need to have your sample collected. The NIGMS Repository accepts either blood draws or skin tissue punches which can be taken at your next doctor’s appointment. It can be helpful to discuss the donation process with your doctor beforehand to ensure the sample collection is streamlined. Once the sample has been taken, follow the instructions to package it up and send it back. It is also encouraged to send as much clinical information as you are willing to share. The most common documents received are physician summary letters and genetic testing results. The more details attached to each sample, the more helpful the cells are to future researchers.
What are the costs of submission? There is no cost to submit a sample to the Repository. The Repository provides sample collection and shipping materials and covers the cost of shipping. The Repository does not cover any fees related to the actual collection of the sample including venipuncture fees or doctor fees.
When I make a donation to Coriell, is that approved by an ethical or institutional review board? Yes, since the NIGMS Repository at Coriell is funded by the NIH, they must obey a certain ethical standard that is led by Coriell’s Institutional Review Board. In addition, any researcher that is interested in using Coriell’s cell lines must sign a Material Transfer Agreement to ensure that the researchers are qualified. Is my personal information protected? All samples are de-identified immediately once they enter Coriell, and all personal identifying information is removed from your sample. Privacy is of the utmost importance in human subjects research and thus, Coriell takes many precautions to ensure that your identity is safe and secure. They have also obtained a Certificate of Confidentiality from the National Institutes of Health to ensure the privacy of all donors. The NIGMS Repository will not give out your name or any other identifying information to the scientists who receive the samples. Some personal health information, such as age at the time of collection, gender, diagnosis, race, and ethnicity or country of origin will be made available to scientists to assist with their studies.
Can I have my sample taken during routine blood work? Absolutely. In fact, we encourage you to combine your sample donation with your routine lab work to make the donation easiest for the patient.
Who can collect a skin biopsy? Though most doctors are capable of performing a skin biopsy, dermatologists generally have the most experience performing skin biopsies. The repository regularly sees something called a skin punch biopsy, which uses a small tool to take 2-4 mm2 of tissue from the forearm. It may be helpful to speak with your doctor beforehand to ensure that the biopsy runs smoothly.
Who has access to the samples in the NIGMS Coriell biobank? Every qualified investigator in the world has access to these samples. Overall, the NIGMS's philosophy is that the more researchers that have access to rare disease samples, the more likely a break through is to occur. We also track publications that utilize our samples and then link them to the sample page so that future customers can read these papers for reference. This is a good way to look into what type of research is occurring with each sample or even a collection of samples.
What if I do not want to continue keeping samples with the Coriell biobank? Donors can have their samples withdrawn from the repository at any time. Contact the NIGMS Repository at NIGMS@coriell.org for more information.
More information can be found at Coriell's website.