Institutions Using Specimens from the National ALS Biorepository

The National ALS Registry is committed to promoting ALS research. Researchers can request specimens and/or data to further ALS research. The following institutions have requested specimens and/or data. This list will be updated as new research proposals are approved by ATSDR.

Institutions using Specimens
Study Name Institution(s) Investigator(s) Date Completed
New! 

Genome Sequencing of Samples from the National ALS Biorepository Feasibility Project

National Institutes of Health Bryan Traynor, MD, PhD
New! 

Metal levels in National ALS Registry Biorepository participants compared with NHANES 2013-2014 participants

Agency for Toxic Substances and Disease Registry/National ALS Registry
National Center for Environmental Health/Division of Laboratory Services
University of Rochester School of Medicine and Dentistry
Multiple
New!

Role of FUS protein in inflammation and neurodegeneration, as potentially applied to understanding the development of ALS

Icahn School of Medicine at Mount Sinai Ivan Marazzi, PhD

 

  • Genome Sequencing of Samples from the National ALS Biorepository Feasibility Project.

Previous studies have been successful at unraveling the genetics of both familial and sporadic amyotrophic lateral sclerosis (ALS). Although we now understand the genetics underlying ~15% of cases, much remains to be discovered. The availability of DNA samples from CDC Biorepository is a vital resource for these ongoing efforts. We plan to genotype all of the ALS samples in the CDC Biorepository using a SNP chip tailored to neurological disease. De-identified genetic information will then be made publicly available on the dbGaP web repository. Researchers will be able to request samples from the Biorepository and simultaneously download genetic data for the same samples, thereby increasing the utility of these samples.

  • Metal levels in National ALS Registry Biorepository participants compared with NHANES 2013-2014 participants.

Metal exposure has been studied as a potential environmental risk factor for ALS, but few studies have evaluated metal exposure using levels measured in blood or other tissues. Previous studies have yielded inconsistent results, possibly because of small sample sizes, choice of comparison groups, or the different types of samples used for measurement. We will study the effect of a broad spectrum of metals in blood and urine using the ATSDR National ALS Biorepository specimens paired with relevant National ALS Registry survey data. The NCEH Laboratories will test the specimens using similar protocols to National Health and Nutrition Examination Survey (NHANES) metals testing. We will determine if the ALS biorepository participants have an elevated or decreased level of the various metals and if any of the survey variables has an effect on the association.

  • Role of FUS protein in inflammation and neurodegeneration, as potentially applied to understanding the development of ALS.

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease affecting both lower motor neurons in brainstem and spinal cord and upper motor neurons in the motor cortex and leading to a loss of the capacity to initiate and control voluntary muscle movements. Several pathogenic mutations have been identified in the genome of ALS patients, each of them associated with diverse phenotypes. In our laboratory we investigate the function of the protein FUS, which has numerous variants associated to ALS. In attempt to elucidate potential mechanisms that may lead to FUS cytotoxicity in neurodegeneration, our team focuses on the function of FUS mutation in ALS. Our preliminary data suggests that FUS plays a role in the response to pathogens and FUS mutation could confer differences in susceptibility to infectious disease. To address the cause-effect relationship between inflammation and neurodegeneration we aim to investigate the challenging idea that alterations in the innate immune response caused by FUS mutations can potentially contribute to neurodegeneration. Results of this project will further elucidate FUS protein function and will be submitted for publication in peer reviewed science journals. Our findings will allow us to study FUS in a new direction and its contribution to innate viral immune response, as well as its potential role in triggering the progression of ALS. Consequently, we offer our expertise in the genetic, molecular, biochemical and cellular characterization of the immune responses to explore the novel idea that deregulations in the immune compartment may participate in the precipitation of ALS disorder.