Coriell Institute for Medical Research
The Human Genetic Cell Repository (HGCR) at the Coriell Institute for Medical Research is currently seeking volunteers to donate a blood sample for research. The HGCR, which has been sponsored by the National Institute of General Medical Sciences at the NIH since 1972, serves the research community by collecting, storing, and distributing cells from individuals with genetic diseases. Qualified researchers can obtain these cells to study how cells function, to identify new mutations, and to develop ways to diagnose, treat, and possibly prevent genetic disease.
Due to the expansion of newborn screening in the United States, the HGCR has undertaken a project to obtain samples from all disorders on the newborn screening panel. The increase in the number of disorders tested for via newborn screening will generate new research initiatives to better understand these disorders. With your help, the HGCR can help provide the appropriate materials needed to accomplish this research.
The collection of samples from individuals with organic acidemias and other inborn errors of metabolism by the Human Genetic Cell Repository (HGCR) is for the establishment of cell lines. Cell lines contain live cells that can be used to study cellular functions. DNA can also be produced from cell lines. The most important thing about a cell line is that it is a renewable source of material, meaning that additional cells and DNA can continuously be made. Cell lines established at HGCR 30 years ago are still being used for research conducted today. HGCR's commitment to strict quality control practices will ensure that cell lines established today from individuals with inborn errors of metabolism will be available for researchers in future generations. These samples may even be used in the future as quality control material for DNA testing to ensure that laboratories across the country are performing quality diagnostic testing for inborn errors of metabolism. Lastly, the availability of these samples from a public repository will allow all researchers to have access to these materials, including ones that may not have studied these disorders otherwise due to the time and expense needed to collect their own samples.
Any individual with an inborn error of metabolism, such as an organic academia or fatty acid oxidation disorder, is eligible to participate. A blood sample and clinical information about the donor is all that is required. All samples and information will be anonymized and no identifiable information will be released to researchers. For more information or to donate a sample, please contact Tara Schmidlen, MS, CGC, Genetic Counselor, NIGMS Human Genetic Cell Repository at (856) 757-4822 or tschmidl@coriell.org.
