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.