ALS Research Biorepositories
To inquire about or to make a donation to the biorepository banks for ALS research, please contact Aaryn Belfer at firstname.lastname@example.org or 858-246-0247.
ALS Blood Bank
The ALS Blood Bank is a repository of blood samples collected from volunteers with ALS to be used for current and future research projects. Some of the projects include searching for ALS biomarkers, genetic factors and gene expression in ALS, and pathophysiology of ALS. The donation is less than 100 mL of blood (this is less than one fifth of the amount which is standard for Red Cross donations) and provides an abundance of research material for multiple research projects. We are collecting samples from both volunteers with ALS and people who do not have ALS (control volunteers).
Fluorescent in situ hybridization (FISH) of skin fibroblasts from a patient with the mutation of the gene C9orf72. The figure above shows inclusions comprised of RNA from this gene that abnormally aggregate in the nucleus and are suspected to be a critical aspect of the disease pathogenesis.
Skin Tissue Bank
We are creating a bank of cultured fibroblast cells using skin biopsy samples collected from sporadic ALS patients, control volunteers and especially patients with C9orf72 mutation and their family members. These cells allow for ongoing research of the pathophysiology of both sporadic and genetic forms of ALS, and provide a research model for therapies.
We are searching for more volunteers willing to have a skin biopsy to support this research. While science has sophisticated models and technologies to study these diseases, direct access to human tissues with these diseases is vitally important and in short supply. Volunteering involves having a skin biopsy procedure performed (a small 3 mm incision is made to collect the sample). From this biopsy, a specific type of cell called a fibroblast will be extracted and then cultured to become a resource for future studies.
In 2006, an obscure protein called TDP-43 was identified in ALS to abnormally mislocate from where it normally functions in the nucleas (right) to the cytoplasm (left) where the protein clumps and aggregates. This discovery transformed the ideas about ALS pathogenesis and has been one of the critical themes of modern molecular research.
Contact ALS Research Biorepositories