The HHF for GAN Cell & Tissue Bank is housed at Columbia University Medical Center. It is critical that GAN scientists have access to GAN patient’s cell to study disease mechanisms. Also, it’s valuable to have each parent provide skin tissue for research purposes. It is only through research that a cure for GAN will be obtained.
Three examples of how critical skin tissue (obtain from a skin punch biopsy) is to GAN research:
- The GAN patients skin cells have an abnormality. Dr. Gray, UNC and student, Bethany Kerner, Columbia University, did gene therapy against these cells and were able to show that the abnormality of the cell was healed, or rescued by GAN gene therapy. Scientists not only learn from these cells, they are test experimental treatments against these cells.
- One of our scientific collaborators made a recent discovery utilizing these cells that will significantly open the door to NIH funding for basic research grants. The GAN skin cells are a model for studying other diseases that have similar disease pathology as GAN. Ex: Both ALS and Parkinson pathology is vimentin aggregates, yet their skin cells have normal vimentin. Finally, with GAN skin cells, scientists now have a cellular model to study vimentin aggregation and its impact on disease. GAN skin cells have vimentin aggregates.
- The cellular abnormalities differ from patients having different GAN mutation types. Studying these differences can lead to therapeutic targets. HHF has now obtained a skin samples during the natural history study. GAN scientists are very interested to see what’s different in the cells of mild GAN patients vs. sever patients. For example, if mild GAN doesn’t have any peripherin accumulation, and severe GAN cells have significant peripherin accumulation, than finding a medicinal compound that reduces peripherin is a possible therapeutic for GAN.
Each parent and GAN patient will only be asked to provide one skin sample, as these cell lines are expanded and preserved in many different vials. These precious cells will be made available only to scientists who submit written requests and state their scientific aims of the studies they wish to conduct using these cells.
Patients can consent and provide both blood and tissue samples as part of the GAN Natural History Study happening at the National Institutes of Health (NIH). If you can’t travel, or don’t wish to participate in the natural history study, you can consent and have a skin sample taken and blood drawn by your local doctor, for research purposes. The tissue can be sent to Dr. Carsten Bonnemann, at NIH. For consent document, and skin sample collection and shipping information, please contact Lori Sames at LoriSames@Yahoo.com. For blood draw collection and shipping information, please refer to ‘Diagnostic testing’ section of this website under ‘Doctors & Families’ tab.