We are partnering with the US National Institute of General Medical Sciences (NIGMS) to collect DNA samples for patients with DTDS located anywhere in the world. This enables scientists to access and study these cells for research. All the samples are completely anonymized.
The repository is a research biobank. This means that they collect samples from individuals with genetic diseases and make cell lines and DNA for scientists to use in their studies. They accept samples from affected individuals and their family members from domestic and international locations around the world. They do not conduct research at Coriell, but they do provide the materials for scientists to perform research on a variety of genetic diseases. They also do not provide sample donors with any results or information regarding their genetic disease. Once the sample is accepted into the NIGMS Repository catalog, you may designate a researcher to receive a free vial of the cell culture.
How Patients and Immediate Family Members Can Help
NIGMS is currently accepting skin and blood samples from DTDS patients, parents, and siblings as well. Scientists currently studying DTDS have indicated that skin samples are currently more desirable than blood samples, however both are informative.
It is a one-time sample donation and some paperwork (informed consent, a submission form, and a clinical data summary) to be completed for each sample donor. Importantly, they also request that you enclose copies of any records you have that relate to the diagnosis such as genetic test results, physician summary letters, or other supporting clinical information. The more detail they have, the more helpful the samples are to researchers. The NIGMS Repository website also has all of the forms used by donors such as the submission form, consent form, and CDE (Clinical Data Elements). Find the link to these forms in the Donor Portal. These forms will be sent in the kits and are barcoded to match the sample tubes.
Submitting your samples is very easy to do. Visit Coriell Institute, fill out the form, and they will send you a kit for your doctor to use, along with easy directions how to send it back. Please speak to your doctor to schedule a skin biopsy. Doctors who perform skin biopsies may include: primary care physicians, dermatologists, geneticists, and oftentimes your neurologists office will help set this up for you.
A step-by step description of the process:
- 1. Start by registering for a kit above.
- 2. You will receive an email from Coriell with the steps you need to take.
- 3. You call your pediatrician or neurologist to discuss who can take the skin biopsy. Usually a dermatologist in the same hospital.
- 4. You make an appointment to have the skin sample done on Monday to Thursday and not on a bank holiday.
- 5. Once you have your appointment scheduled, you order a skin kit from Coriell, they will ensure that you have it at home before the appointment.
- 6. You receive the kit and complete the paperwork, possibly together with your pediatrician.
- 7. You have the skin biopsy taken, put it in the box together with the paperwork and send the box to Coriell immediately the same day.
- 8. Let Coriell know the kit has been sent and they will let you know when it has been received.