Biospecimens

  • FSHD Biospecimen Registry. The National Disease Research Interchange (NDRI) is a 501(c)(3) not for profit, NIH-funded organization that will provide FSHD post-mortem or surgical biospecimens to approved researchers through its FSH Society-funded national tissue donation registry. If you are interested in receiving samples you will need to complete an application process. To download and submit the application, please visit the NDRI website where you will find all associated documents and a complete list of available tissues.

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    Regarding fees associated with the sample, the FSH Society, through a grant to NDRI, is covering the cost for establishing the infrastructure to match samples with researchers and to procure and process the samples. Additional funds to recover and deliver tissue have been raised through our GlobalGiving crowd-funding campaign. Ultimately, all of the funds for this FSHD tissue recovery resource were raised from patients, family members, and friends who are united in their commitment to support research toward treatments for FSHD.
  • Coriell Cell Repositories. For a listing of cell lines and products available for FSHD research, please click here. The scientific staff at Coriell has been greatly helped by the FSH Society in acquiring this important resource for the NIGMS Collection. Investigators looking to purchase cell lines should have a current MTA on file with the NIGMS Repository at The Coriell Institute. Complete information on how to order samples can be found at this link.

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    The FSH Society and the Coriell Cell Repositories in Camden, New Jersey, have been working together to bring cell lines from FSHD families into the National Institute for General Medical Sciences Human Genetic Cell Repository. The FSH Society recruits FSHD patients and family members to donate tissue and cells. The intention is to establish a resource of FSHD materials open to researchers worldwide for a reasonable cost. Researchers can be assured of the quality of the cell lines and DNA from the NIGMS Collection, which Coriell initiated at the invitation of the NIH. All cells are free of microbial contamination, including mycoplasma, and have been assigned a microsatellite identity profile. All members of any submitted family are verified by Coriell for relationship before they are included in the collection. Coriell therefore supplies validated, uncontaminated cell cultures to established researchers who can be certain that the cells they receive are the cells they ordered. The extensive quality control that Coriell uses to assess isolated DNA includes pulse field gel electrophoresis and long-range PCR. Finally, a clinical profile of each affected family member from the FSHD collection will be provided in the electronic catalog.
  • Genea BiocellsAustralian biotech company supported by FSHD Global Foundation. Genea Biocells was the first in the world to develop a consistent, scalable, and highly efficient differentiation protocol for skeletal muscle cells from human pluripotent stem cells. Genea has human FSHD embryonic stem cell lines available along with an efficient protocol for differentiating the cells into satellite cells, myocytes and myotubes. They now have a lab in San Diego. Read more.
  • University of Massachusetts Medical School UMMS Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Center for FSHD. Distributes FSHD and control primary skeletal muscle cell strains and immortalized clonal cell lines, established on July 12, 2011. Click here for details.

    How to Request Cells

    To request cells, please email requests to Charles P. Emerson, Jr., and cc Jennifer Chen. A copy of the material transfer agreement (MTA) and a summary table of available cells will be sent in the reply email. Requests will be handled on a first-come, first‐served basis upon return of completed MTA. Depending on the level of interest, we may not be able to accommodate all requests immediately with the current reserve; the stocks are renewable to a limited extent, but this effort will require time. A fee per cohort will be charged to offset handling costs; shipping will be billed either through the recipient’s FedEx account number or as a separate charge.
    • Brain and Tissue Bank for Developmental Disorders at the University of Maryland in Baltimore. For a list of available FSHD tissue specimens, download the Maryland Tissue Bank Inventory (dated May 8, 2016).

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      A tissue resource center established by the National Institute of Child Health and Human Development (NIH NICHD). The bank serves as an intermediary between the research community and people who wish to donate tissue for research upon the time of their death. The bank safely stores the tissue until qualified researchers request the tissue for research. Both people with developmental disorders and people free of disorders are encouraged to register and donate tissue. Often, it is the comparison of the unaffected with the affected that unlocks the medical mystery of a disorder. The availability of tissue from donors with FSHD is especially limited. As more tissue becomes available and more researchers dedicate their life’s work to this disorder, new discoveries can lead to treatments and, eventually, a cure. It is only through the study of donated tissue that important answers will be found. Contact: Anthony WeldonProject CoordinatorBrain and Tissue Bank for Developmental DisordersUniversity of Maryland 655 W. Baltimore Street 13-013 BRB Baltimore, MD 21201-1559 USA Toll free: (800) 847-1539 Local: (410) 706-1755 Fax: (410) 706-0020 Email: btbumab@umaryland.edu or aweldon@umaryland.edu
    • Tissue Donation. Please get the word out and encourage individuals involved with FSHD (affected and unaffected) to sign up to be tissue donors. Also, please be aware that valuable tissues such as muscle can be obtained from certain types of surgery such as scapular fixation.

      Obtain Sample Protocol and Consent Form

      A sample protocol and a sample Consent to Participate in Research form for clinicians and surgeons can be downloaded here. These forms are only examples. Before using any form, the form must be reviewed, approved, and/or modified by the investigator, the institution, and any applicable review boards. These forms are provided for general informational and educational purposes only. The FSH Society and this website do not provide medical or legal advice or recommendations. Neither the FSH Society nor any contributor to this website can be liable or responsible for anything related to the use of these forms.