Co-PI of the NIGMS Repository, Matthew W. Mitchell, PhD, gave a presentation as part of the AMP Reference Materials Forum, which took place virtually earlier this month. This meeting focused on the research need and resource availability of genetic testing reference materials, such as DNA samples. Some of the more common research applications requiring the use of these well characterized biomaterials include: assay development, test validation, quality control, and proficiency testing.
read moreTeam members from the NIGMS Repository traveled to Philadelphia this month to attend the RARE Health Equity Summit, sponsored by Global Genes. This inaugural meeting was developed to address inequities in the field of biomedical research informing health care in the rare disease community, particularly as they affect marginalized patient communities.
read moreThe NIGMS Human Genetic Cell Repository (HGCR) and NHGRI Sample Repository for Human Genetic Research (SRHGR) now offer high molecular weight (HMW) DNA samples isolated from cell lines in the collections. HMW DNA is useful for long-read next-generation sequencing and studies that investigate large-scale genomic variation such as structural variation.
read moreBiomedical research requires the use of primary samples that are derived directly from individuals affected by disease. The use of these primary research materials means that the health information connected to a person who donates a sample is tied up with the description of the sample itself. It’s critical, therefore, for biobanks to decouple this useful research material from a donor’s private information, a process known as de-identification. This protection of sample donors’ personal and identifiable information is paramount to preserving donor anonymity.
read moreThe NIGMS Human Genetic Cell Repository is proud to launch a collaborative initiative with the scientific research community in an effort to enhance the molecular and biochemical characterizations of catalog-available samples.
read moreThe mission was clear. Kasey Woleben needed to collect dozens of skin punches from members of her group, Cure SURF1, and she needed to get fibroblast cells from those samples safely to the University of Texas Southwestern Medical Center. Researchers there had been working on a gene therapy treatment for SURF1 and it was vital to have the cells to prepare an application to the FDA.
read moreThe International Society for Biological and Environmental Repositories (ISBER) hosted its annual meeting from May 10-14, 2021 and it was attended by several representatives from the NIGMS Repository and the Coriell Institute’s Repository Leadership Team.
read moreFormalin-Fixed Paraffin-Embedded (FFPE) scrolls are now available for the cell line GM12878 via Coriell Institute’s online catalog. This product, Repository ID: FF12878, is available as a set of FFPE scrolls of a homogenous cell pellet of GM12878.
read moreThe NIGMS Human Genetic Cell Repository was featured in a recent event recognizing Rare Disease Day 2021, highlighting the role that patients with heritable diseases play in advancing rare disease research.
read moreResearchers from the Genetic Testing Reference Materials Coordination Program (GeT-RM) have published a study (PMID: 33197628) in collaboration with the NIGMS Repository, to establish genotypic characterizations of high quality reference materials for Spinal Muscular Atrophy (SMA).
read more