Propelling Rare Disease Research for More Than 50 Years

Vials of samples from the NIGMS HGCR. Credit: Coriell Institute for Medical Research. The year 2022 marked 50 years since the creation of the NIGMS Human Genetic Cell Repository (HGCR) at the Coriell Institute for Medical Research in Camden, New Jersey. The NIGMS HGCR consists of cell lines and DNA samples with a focus on those from people with rare, heritable diseases. “Many rare diseases now have treatments because of the samples in the NIGMS HGCR,” says Nahid Turan, Ph.D., Coriell’s chief biobanking officer and co-principal investigator of the NIGMS HGCR. She gives the example of a rare disease advocacy group who worked with the NIGMS HGCR to establish a cell line several decades ago. It was used to identify a gene associated with the disease, which aided in the development of five treatments that have received approval from the Food and Drug Administration. Researchers have also studied NIGMS HGCR’s samples to help advance knowledge of basic biology and genetics, and even to support the development of a vaccine for a deadly virus. The NIGMS HGCR was first presented to the scientific community in 1973 as a paper catalog with only a few genetic disorders and chromosomal abnormalities included in its small number of cell lines. Now, the collection boasts many thousands of cell lines and DNA samples that represent inherited genetic disorders, healthy controls, human amniotic fluid cultures, chromosomal abnormalities, geographically diverse populations...
Source: Biomedical Beat Blog - National Institute of General Medical Sciences - Category: Research Authors: Tags: Cells Genes Injury and Illness Diseases Genomics Scientific Process Source Type: blogs