Integrated Disease Registry and Repository Available through Coriell Institute, NIGMS, and PatientCrossroads

Patient advocacy organizations and research investigators can now take advantage of a new
integrated registry and repository resource to further advance rare disease research. Blood or
tissue samples donated to the NIGMS Human Genetic Cell Repository at the Coriell Institute for
Medical Research can be linked to de‐identified clinical data in patient registries built by
PatientCrossroads. The samples and corresponding clinical information are then made available
to the international scientific community for use in basic research, gene discovery and the
development of potential treatments.

Key features of the integrated registry and repository solution offered by Coriell Institute and
PatientCrossroads include:

• All registry/repository participant data is accessible through a global unique identifier,
protecting privacy;

• Registry/repository data is collected in a single location, minimizing the time burden on
participating patients and families;

• Cell lines and DNA established from donated blood or tissue samples undergo rigorous
quality control measures, ensuring availability of high quality biomaterials to the
international scientific community;

• Scientists using the samples can access current and past information about sample
donors, resulting in an enhanced understanding of the disease course over time;

• Transfer of collections from existing research programs, including existing cell lines or
registry data, can be achieved to ensure future availability of established resources.
Participating patient advocacy organizations are already benefitting from this proven, cost‐
efficient, registry‐repository partnership. The Congenital Muscle Disease Collection, a
collaboration between Cure CMD, the Congenital Muscle Disease International Registry
(CMDIR), and the NIGMS Repository was recently established to help advance research and
invest in the future of CMD therapy development.

Patient advocacy organizations interested in setting up integrated registry and repository
services, and research investigators interested in access to samples with registry data should

About the NIGMS Human Genetic Cell Repository and Coriell Institute for Medical Research
The National Institute of General Medical Sciences (NIGMS) Human Genetic Cell Repository
provides the international research community with cell lines and DNA from individuals with a
variety of genetic diseases and chromosomal abnormalities ( The
repository is supported by contract # HHS‐N‐263‐2009‐00026‐C from the National Institute of
General Medical Sciences, one of the National Institutes of Health, to the Coriell Institute for
Medical Research.

Coriell Institute for Medical Research ( is an independent, non‐profit
biomedical research center based in Camden, New Jersey. Founded in 1953, the Institute is
dedicated to unlocking the genetic code of human disease. Coriell is a pioneer in genomics,
examining the utility of genetic information in clinical care through the Coriell Personalized
Medicine Collaborative® (CPMC®) research study ( Coriell is also
exploring the promise of induced pluripotent stem cells – stem cells created from skin or blood
– and their role in disease research and drug discovery. Additionally, Coriell continues to be
recognized as the world’s leading biobank, distributing biological samples, and offering custom
research and biobanking services to scientists around the globe.

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