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The current state of research in environmental risk factors of ALS has provided many intriguing possible associations. Yet only one-smoking is at this time firmly established. The methodologic difficulties with studying a rare disease that occurs late in life, which could be related to exposures many decades ago, make relationships dauntingly difficult to prove. Despite continued improvement in methodology, significant challenges remain. The diagnostic criteria for ALS are complicated and there are continued efforts to improve them. As they are, the criteria do not yet capture all people with ALS, which further complicates epidemiologic studies. It is hoped that larger datasets with better characterization of different clinical features and laboratory markers will provide more robust estimates of risk factors in ALS in the years to come. A better understanding of environmental risk factors could help reduce exposures and it is hoped markedly reduce ALS incidence over time. Epidemiologic research is critical to advance this field, but the relative rarity of ALS and the current notion that exposures may affect the risk of ALS only decades later make such projects complex with many challenges. One US project of great potential is the National ALS Registry. It is a congressionally-mandated prospective population-based registry encompassing the entire US population. In addition to quantifying the incidence, prevalence, and demographics of ALS in the US, another main goal of the Registry is to examine the risk factors for the disease through online risk factor modules. There are currently 17 different risk factor modules that persons with ALS can complete including, but not limited to, cigarette smoking, alcohol consumption, military service history, occupational history, and a family history of ALS. Since the Registry's launch in October 2010, over 45,000 online risk factor modules have been completed. To our knowledge, this is the largest and most geographically diverse collection of risk factor data available about ...

Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron disease (MND). It is currently incurable and treatment is largely limited to supportive care. Family history is associated with an increased risk of ALS, and many Mendelian causes have been discovered. However, most forms of the disease are not obviously familial. Recent advances in human genetics have enabled genome-wide analyses of single nucleotide polymorphisms (SNPs) that make it possible to study complex genetic contributions to human disease. Genome-wide SNP analyses require a large sample size and thus depend upon collaborative efforts to collect and manage the biological samples and corresponding data. Public availability of biological samples (such as DNA), phenotypic and genotypic data further enhances research endeavors. Here we discuss a large collaboration among academic investigators, government, and non-government organizations which has created a public repository of human DNA, immortalized cell lines, and clinical data to further gene discovery in ALS. This resource currently maintains samples and associated phenotypic data from 2332 MND subjects and 4692 controls. This resource should facilitate genetic discoveries which we anticipate will ultimately provide a better understanding of the biological mechanisms of neurodegeneration in ALS.

Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron disease (MND). It is currently incurable and treatment is largely limited to supportive care. Family history is associated with an increased risk of ALS, and many Mendelian causes have been discovered. However, most forms of the disease are not obviously familial. Recent advances in human genetics have enabled genome-wide analyses of single nucleotide polymorphisms (SNPs) that make it possible to study complex genetic contributions to human disease. Genome-wide SNP analyses require a large sample size and thus depend upon collaborative efforts to collect and manage the biological samples and corresponding data. Public availability of biological samples (such as DNA), phenotypic and genotypic data further enhances research endeavors. Here we discuss a large collaboration among academic investigators, government, and non-government organizations which has created a public repository of human DNA, immortalized cell lines, and clinical data to further gene discovery in ALS. This resource currently maintains samples and associated phenotypic data from 2332 MND subjects and 4692 controls. This resource should facilitate genetic discoveries which we anticipate will ultimately provide a better understanding of the biological mechanisms of neurodegeneration in ALS.

Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron disease (MND). It is currently incurable and treatment is largely limited to supportive care. Family history is associated with an increased risk of ALS, and many Mendelian causes have been discovered. However, most forms of the disease are not obviously familial. Recent advances in human genetics have enabled genome-wide analyses of single nucleotide polymorphisms (SNPs) that make it possible to study complex genetic contributions to human disease. Genome-wide SNP analyses require a large sample size and thus depend upon collaborative efforts to collect and manage the biological samples and corresponding data. Public availability of biological samples (such as DNA), phenotypic and genotypic data further enhances research endeavors. Here we discuss a large collaboration among academic investigators, government, and non-government organizations which has created a public repository of human DNA, immortalized cell lines, and clinical data to further gene discovery in ALS. This resource currently maintains samples and associated phenotypic data from 2332 MND subjects and 4692 controls. This resource should facilitate genetic discoveries which we anticipate will ultimately provide a better understanding of the biological mechanisms of neurodegeneration in ALS.