Help build a research resource for scientists studying Congenital Muscular Dystrophy

The CMD BioBank at Coriell

A well-characterized, central source of CMD samples to help further CMD research and invest in the future of CMD therapies

The Coriell Institute in Camden, NJ as part of the National Institute of General Medical Sciences (NIGMS) biorepository

Coriell Institute for Medical Research

Independent, non-profit research organization dedicated to understanding human genetic diseases and providing the highest quality genetic resources

• Home to the world’s largest biobank

• Distributor of cell lines and DNA world wide

• Capability to make induced pluripotent stem cells (iPS) for use in drug and therapy development

What are iPS cells? induced pluripotent stem cells (iPS cells) Man-made embryonic-like stem cells created by taking

human skin cells and using viral vectors to reprogram the cells back to an embryonic, undifferentiated (“blank slate”) state

How can iPS technology be used? “blank-slate” iPS cells can be directed to

develop into any cell type (ex: muscle) so scientists can test how well a drug or therapy works on those cells

Easier access to target tissues: Scientists can make "affected” cells to study from a skin biopsy, which is easier to collect than muscle or other types of tissue biopsies

Unlimited quantities of iPS cells can be made which is helpful for transplant-based therapies or to test the effects of new drugs

How can iPS cells help CMD translational research? A better model: animal models don’t always overlap

human physiology Better testing: testing the effect of the drug directly on the

target molecule (ex. human muscle cells generated from iPS)

Statistical power: recruiting enough physicians and research subjects to conduct clinical trials may be easier when the drug has been developed with the best possible model (iPS vs. animal)

Approval: The better the drug development testing, the more likely the drug is to win the approval of regulatory bodies (FDA), insurance companies and potential manufacturers and distributors

Coller, B.S. & Califf, R.M. (2009). Traversing the Valley of Death: A Guide to Assessing Prospects for Translational Success. Science of Translational Medicine. 1:10cm9.

We need your help!

Individuals with CMD and carrier parents and siblings are eligible to donate either a blood or skin biopsy sampleBlood can be used to make cell lines and DNASkin biopsy can be used to make cell lines, DNA

and iPS cell lines

Complete some paperworkInformed Consent/AssentNIGMS Sample Submission FormNeurologist Clinical Data Elements Form

Giving a skin biopsy sample

http://www.mayoclinic.com/health/medical/IM03539

A doctor will numb the area and then use a special circular blade to remove a ¼” piece of skin

The biopsy should be placed in the vial provided in the collection kit

Used prepaid FedEx air bill to ship overnight for receipt Monday-Friday at Coriell

Giving a blood sample

http://www.nlm.nih.gov/medlineplus/ency/imagepages/10026.htm

Blood should be drawn into tubes provided in collection kit

DO NOT REFRIDGERATE BLOOD!

Used prepaid FedEx air bill to ship overnight for receipt Monday-Friday at Coriell

Does it cost money to donate?

Coriell pays for shipping, but can not pay for fees associated with having a sample collectedi.e. co-pays, blood draw

or biopsy fees Have samples

collected during scheduled doctor’s visits

Coriell scientists will make cell lines and DNA from blood and skin biopsy samples

The CMD BioBank at Coriell

The cell lines are placed in glass ampules and then stored in liquid nitrogen tanks at -316 ° F

The CMD BioBank at Coriell

The cell lines and de-identified medical information (CMDIR) about the donor are made available to researchers through an online catalog

The information shared from the CMDIR to Coriell will include: Lung function Heart function Maximal motor function Medications Genetic mutation (s), if known Creatine kinase value Muscle biopsy information

How will CMD BioBank samples be used?

Development of therapies

Discovery of disease genes and their function

Further study of known genes/gene expression

Development of new genetic tests

Will sample donors receive results? Sample donors will

NOT receive results of any testing performed on their sample or materials generated from their sample

For more information, please contact:

856-757-4822tschmidl@coriell.orghttp://ccr.coriell.org

Tara Schmidlen, MS CGCCertified Genetic CounselorNIGMS Human Genetic Cell Repository