The Association for Creatine Deficiencies is excited to partner with Coriell, a world leader in biobanking (the collection of biosamples for research purposes) to collect and store cells from patients with Cerebral Creatine Deficiency Syndromes. 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 (the observed properties or biochemical characteristics of the cell). 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 consequently disease. Currently, these effects are not well understood. Enabling researchers to have access to patient-derived cells will accelerate fundamental research into CTD 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.

To emphasize the importance of readily available patient biosamples for the research and biotech world, we asked Jnana Therapeutics to share why having access to patient cells matters.

Why biosamples matter: The Jnana Therapeutics Story
Jnana Therapeutics is a biotechnology startup using a novel drug discovery platform to modulate metabolite transporters to treat disease. The company is focused on areas where they believe drugging transporters will provide effective medicines for diseases of high unmet need, which includes creatine transporter deficiency. Some of you may have met the wonderful folks from Jnana at the ACD Medical and Patient Symposium in 2018.

Jnana reached out to the ACD for help in understanding more about cerebral creatine deficiencies. In order to gain more understanding, Jnana needs access to patient cell samples. This is where you can help!

Patient cells in the NIGMS Repository can dramatically speed up drug discovery research for Jnana and the broader scientific community. 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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