Biobank Collecting Blood Samples for Neuromuscular Disease Research People with

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Biobank Collecting Blood Samples for Neuromuscular Disease Research

People with certain genetic neuromuscular diseases are encouraged to donate

blood samples for research; privacy and anonymity assured

http://quest.mda.org/news/biobank-collecting-blood-samples-neuromuscular-disease\

-research

The National Institute of General Medical Sciences (NIGMS) Human Genetic Cell

Repository at the Coriell Institute for Medical Research in Camden, N.J., is

collecting blood samples from people with genetic diseases for use in research.

The cell lines, DNA and other materials derived from the samples are used by

scientists worldwide to study the diagnosis, treatment and prevention of rare

genetic disorders. Several measures are taken to ensure the privacy and

anonymity of donors.

The NIGMS biobank is seeking blood samples of genetic neuromuscular diseases

including muscular dystrophy, motor neuron diseases, metabolic diseases of

muscle, peripheral nerve diseases, diseases of the neuromuscular junction, and

other myopathies. Interested parties may contact NIGMS to see if their type is

needed for the bank.

Although the sample collection kit is free, the bank does not cover the cost of

obtaining the sample.

People with genetic neuromuscular diseases who want to " do something for

science " now have a way to do so, although they're unlikely to ever know the

results of their good deed.

Scientists at the National Institute of General Medical Sciences (NIGMS) Human

Genetic Cell Repository at the Coriell Institute for Medical Research in Camden,

N.J., are seeking blood samples from people with certain inherited neuromuscular

diseases for use in research.

In particular, the biobank needs blood samples from people with muscular

dystrophy, motor neuron diseases, metabolic diseases of muscle, peripheral nerve

diseases, diseases of the neuromuscular junction and other myopathies. Most of

the diseases covered by MDA are included in these categories.

" We try to have a broad representation in the repository of as many different

genetic diseases as possible, and within diseases we try to represent as many

genotypes/phenotypes as possible, " says Tara Schmidlen, a genetic counselor who

coordinates the admittance of samples into the NIGMS biobank.

An exact genetic diagnosis is not required for a sample to be added to the bank,

although the more clinical information that can be provided, the more useful the

sample will be to researchers, Schmidlen says.

The biobank does not perform individual genetic testing and once a sample is

submitted, it cannot be removed.

Numerous measures are taken to protect the privacy and anonymity of the donor,

but these measures also prevent any personal information from being derived from

the sample. The bank does not provide results of any kind to donors.

Rather, the anonymous samples are used by researchers around the world who use

cell lines and DNA to discover new disease-causing genes; study known genes and

their expression; and devise new genetic tests.

Samples from the NIGMS biobank, the world's largest, have been used in more than

5,000 scientific publications and by scientists in more than 50 countries, the

organization says.

Participation requires a blood or tissue sample, as well as a completed consent

form, a submission form, and a clinical information summary form.

The Coriell Institute for Medical Research mails participants a collection kit

and pays for the cost of shipping the sample, but not the costs associated with

collecting it.

For more information

Schmidlen advises interested individuals to e-mail her at tschmidl@...

or call (856) 757-4822, to see if the Institute needs blood samples of their

particular disease or subtype.

" For some of the more common conditions, we may not be able to accept more

samples, but this depends on what we already have in the depository and,

occasionally, on what needs to be replenished — some cell lines are used more

regularly than others, " Schmidlen says.

More information may also be found at www.coriell.org and FAQs about the NIGMS

Repository.

Average:

[Guest guest]

Hi ,

That's great your son's want to give blood samples. Here's the info

The Coriell Institute for Medical Research mails participants a collection kit

and pays for the cost of shipping the sample, but not the costs associated with

collecting it. (means your insurance would have to pay for that)

For more information e-mail Tara Schmidlen, a genetic counselor at

tschmidl@... or call (856) 757-4822, to see if the Institute needs blood

samples of their particular disease or subtype.

Gretchen