Coriell Institute for Medical Research
Coriell Institute for Medical Research supports NPC research by making a variety of samples available to researchers. In the past, the Ara Parseghian Medical Research Foundation supported establishment of a group of NPC cell lines at the Coriell Cell Repository in Camden, NJ. Many of these cell lines have additional information linked to them, including DNA analysis results and clinical information. This material and information is stored and made available to researchers through funds supplied by the federal government.
There is now an effort underway to update and expand their collections. There have been quite number of researcher requests for NPD cells, so adding to the collection is an important contribution that families can make. In fact, with 254 requests for NPC cell lines in the last 6 years and 109 for Niemann-Pick disease, types A and B, Niemann-Pick is one of the top 10 diseases for which cells are requested by researchers. This is excellent news! It also means that cell and tissue donations are valued and needed.
Patient samples can be contributed from any of the following sources:
1. From the cell culture used to confirm the diagnosis of NPC. This contribution needs to be done immediately after the diagnosis is made because the testing laboratory does not store these cells for any length of time.
2. For all types of NPD, from a blood sample. This can be collected when the patient is having blood drawn for other reasons.
3. For all types of NPD, from a tissue biopsy or surgical sample. If a biopsy is being done for diagnosis of a problem, or if tissue is being removed for any reason, a portion of that tissue can be donated to Coriell.
All donations should be arranged in advance by contacting the genetic counselor at Coriell who has been assigned specifically to help expand the NPD cell collection:
Tara J. Schmidlen, MS, CGC
Certified Genetic Counselor
NIGMS Human Genetic Cell Repository
Coriell Institute for Medical Research
403 Haddon Avenue
Camden, NJ 08103
tschmidl@coriell.org
P:856-757-4822
F:856-757-9737
http://ccr.coriell.org/
Tara will send collection kits that contain 2 bar-coded blood tubes (1 ACD-A yellow top/1 pink top pediatric tube) or a tissue container and the necessary paperwork for submission to the repository (informed consent/assent, NIGMS submission form). They also cover the cost of shipping and include a return shipment FedEx label in the kit as well, but unfortunately, cannot cover any costs related to the blood draw (no blood draw fees or doctor’s office co-pays, etc), which is why it is best to have the collection done at the same time as clinical samples are collected and those costs might then be covered by insurance.
The forms can also be accessed as pdfs via the links below, or by going directly to the Coriell information page at http://ccr.coriell.org/Sections/Collections/NIGMS/Depositing.aspx?PgId=66&coll=GM. The forms of interest include the General Submission Form, the Model Informed Consent Form and the Assent Form.
Tara is also in the process of developing a ”clinical data elements” document which will let Coriell link specific clinical history to each cell sample stored in the repository. This very detailed form will be tailored to capture information relevant to the specific genetic condition and will be sent to all donors in the future. We will post it here as soon as it is available.
Updated 7/14/2009, CWV