1. Help build a research resource for scientists studying Congenital Muscular Dystrophy

2. 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

3. 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

4. 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

5. 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

6. 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.

7. We need your help!  Individuals with CMD and carrier parents and siblings are eligible to donate either a blood or skin biopsy sample Blood can be used to make cell lines and DNA Skin biopsy can be used to make cell lines, DNA and iPS cell lines  Complete some paperwork Informed Consent/Assent NIGMS Sample Submission Form Neurologist Clinical Data Elements Form

8. 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

9. 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

10. Does it cost money to donate?  Coriell pays for shipping, but can not pay for fees associated with having a sample collected i.e. co-pays, blood draw or biopsy fees  Have samples collected during scheduled doctor’s visits

11.  Coriell scientists will make cell lines and DNA from blood and skin biopsy samples The CMD BioBank at Coriell

12.  The cell lines are placed in glass ampules and then stored in liquid nitrogen tanks at -316 ° F The CMD BioBank at Coriell

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

14. 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

15. 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

16. Will sample donors receive results?  Sample donors will NOT receive results of any testing performed on their sample or materials generated from their sample

17. For more information, please contact: 856-757-4822 tschmidl@coriell.org http://ccr.coriell.org Tara Schmidlen, MS CGC Certified Genetic Counselor NIGMS Human Genetic Cell Repository