Transcript Congenital Muscular Dystrophy BioBank

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 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
Giving a skin biopsy sample
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
http://www.mayoclinic.com/health/medical/IM03539
Used prepaid FedEx air
bill to ship overnight for
receipt Monday-Friday
at Coriell
Giving a blood sample
Blood should be
drawn into tubes
provided in
collection kit
DO NOT
REFRIDGERATE
BLOOD!
http://www.nlm.nih.gov/medlineplus/ency/imagepages/10026.htm
Used prepaid
FedEx air bill to
ship overnight for
receipt MondayFriday at Coriell
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
The CMD BioBank at Coriell

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 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?

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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:
Tara Schmidlen, MS CGC
Certified Genetic Counselor
NIGMS Human Genetic Cell Repository
856-757-4822
[email protected]
http://ccr.coriell.org