You can participate in helping to find a cure for Vici Syndrome with a simple skin sample.
The Coriell Institute has listed the first Vici syndrome sample and is making it available to Vici researchers.
Please consider adding your samples to the collection. We would like to create a set of Vici syndrome samples (as many as possible). This is critical for research that could lead to new drugs or therapies.
Coriell makes it very easy for scientists to get access to samples for research studies. This is different than having your samples stored at a hospital or university lab because there are many fewer administrative obstacles and the samples are all in one place. Also the samples are subject to extensive quality assurance which helps research.
Of special note: For sample donations it is much better to get skin sample donations than blood. All samples are helpful but skin is much more useful. These skin samples can be taken during doctors visits, surgeries, or procedures like g-tube placements. You can find out more information about donating a sample at: https://catalog.coriell.org/…/About/Information-for-Patients
I’d like to donate cells. How do I do that?
First, 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, 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.
My child has already had a skin biopsy, can that be used?
Your doctor may be able to donate the sample to the NIGMS Repository. Please get in touch with your doctor and us to help facilitate this process. If your child’s skin biopsy was converted into a type of cell line called a fibroblast, then it can be easily shared with the NIGMS repository team. The biobank will cover the cost of shipping the fibroblast cell line from the doctor or researcher’s laboratory back to Coriell.
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.
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. Coriell’s customer service team and scientific liaisons verify that the customer is qualified before they even make a purchase (each person must create an online account with us before they can start purchasing samples). The customer also signs an MTA, which their “institutional signing official” must also sign. The signing official must have legal signing abilities and differs with each academic and commercial institution. It is worth noting that donors can have their samples withdrawn from the repository at any time.
Overall, the NIGMS’s philosophy is that the more researchers that have access to rare disease samples, the more likely a breakthrough is to occur. They 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.
Interested in becoming a point-of-contact for families in need of information and resources? We are seeking individuals from around the world who can assist families with establishing vital contacts such as doctors, caretakers, and support groups. If you are interested, please contact us at firstname.lastname@example.org.