The Association for Creatine Deficiencies (ACD) is proud to partner with The Coriell Institute for Medical Research, a world leader in biobanking (the collection of biosamples for research purposes) to collect and store cells from patients with Cerebral Creatine Deficiency Syndromes. Coriell is an independent, non-profit biomedical research center dedicated to the study of the human genome. We need your help as a community to donate cell samples to enable research!

Patient-derived cells provide a relevant disease model in which to identify candidates for potential medicines. These cells also enable fundamental research to understand the relationship between the genotype (the genetic make-up of a cell) and its phenotype (how the mutation affects the patient with any specific symptoms related to behavior or health, for example). In diseases such as Creatine Transporter Deficiency (CTD), a genotype-phenotype relationship could help identify the link between a specific mutation in the transporter and the resulting impact this has on transporter function and patient symptoms. Currently, these effects are not well understood. Enabling researchers to have access to patient-derived cells will accelerate fundamental research into CCDS and should thereby expedite drug discovery.

The NIGMS Repository at Coriell is regarded as the most diverse collection of cell lines and DNA available to the international research community. For nearly 65 years, Coriell has set the gold standard in biobanking services, including the collection, processing, distribution, cryogenic preservation, and information management of human biomaterials used in research. By developing and maintaining biorepositories as national and international resources for the study of human diseases, Coriell is committed to providing the scientific community with well-characterized, cell cultures and DNA preparations, annotated with rich phenotypic data.

Why biosamples matter: Active ongoing research currently using CCDS biosamples 

For researchers, having access to readily available patient biosamples matters. There are currently multiple CCDS research studies underway that are using biosamples from Coriell. ACD encourages any families who have not yet done so, to submit patient fibroblasts and blood samples to Coriell to increase the likelihood that their own variants will be included in research studies.

Two collaborative ACD-funded research studies are currently seeking customized treatments for CTD. The ACD fellows, Dr. Peter Axerio-Cilies (in the lab of Dr. Sylvia Stockler) and Dr. Charles Kuntz (in the lab of Dr. Jonathan Schlebach), are working on understanding SLC6A8 mutations as well as how each mutation may respond to a variety of drug compounds in lab tests on cells. As these studies progress, biosamples from Coriell will play a major role in the efforts to find viable treatments for CTD.

Patient cells in the NIGMS Repository can dramatically speed up drug discovery research for the ACD fellowship studies, and others working with patient samples, to find treatments. Being part of this biobank means many researchers interested in pursuing treatments for CCDS can use these samples. This infographic outlines how you can donate a fibroblast and blood sample to the NIGMS Repository at Coriell. It starts with emailing Coriell at [email protected]

Still wondering what this is all about? Frequently Asked Questions can be viewed here.

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