Genetic and Blood Biomarkers in Neurological and Neuromuscular Diseases
Condition: Neurological Disorders; Neuromuscular Disorders
MeSH terms: Neuromuscular Diseases; Nervous System Diseases
Study type: Observational

Summary: 
      The purpose of this study is to identify genetic or other factors in the subjects blood that
      may predispose them to getting a particular disease or tell researchers how the disease will
      behave, for example how fast it will progress or what areas of the body might be affected. A
      second goal is to relate such factors to how such a condition affects the subjects clinically
      as well as how it affects the electrical functions of nerves and muscles.
    

Detailed description: 
      The etiology of many neurological and neuromuscular disorders is largely unknown.
      Contributions likely come from both inherited and environmental factors. Amyotrophic lateral
      sclerosis ("ALS") is a prototypical example. In 5-10% of cases, genetic mutations exert a
      strong enough influence on disease development that the syndrome is transmitted in a clearly
      Mendelian fashion. Investigations in these "familial" ALS cases have identified more than 20
      causative disease genes. Intensive study of these genes has helped identify several key
      cellular pathways as important for disease, not only in cases with obvious gene mutations,
      but even in the 90% of ALS cases that appear to be "sporadic." Further insights have come
      from investigating blood biomarkers in ALS such as gene and protein expression and lymphocyte
      profiling. It is hoped that further genetic and biomarker analysis will identify additional
      genetic risk factors or biomarkers to better understand the disease and improve therapeutic
      development. These advances can be applied not just to ALS but to the broad range of
      neurological and neuromuscular diseases, including Charcot Marie Tooth neuropathy, the
      muscular dystrophies, epilepsies, Parkinson's disease, and Alzheimer's disease.
    

Observational model: Family-Based
Time perspective: Prospective
Sampling method: Probability Sample
Study population: 
        Up to 350 study subjects per year will be recruited from neurology and neuromuscular
        clinics and inpatient services of St. Louis University and Cardinal Glennon Hospital.
      
Biospecimen description: 
      Whole blood: Blood is the preferred sample to be collected as it yields the broadest number
      of components to be studied, including deoxyribonucleic acid ("DNA"), ribonucleic acid
      ("RNA"), protein & lymphocytes (approximately 10 milliliters). These may be immediately
      utilized or frozen -80C for future research.

      Other tissues: In some circumstances, a subject may have undergone or will undergo a clinical
      procedure yielding bodily tissues or fluids (e.g. a muscle, tumor biopsy, spinal tap). If
      this is the case, nucleic acids (DNA & RNA) and proteins can be extracted for study.
      Furthermore, there may be rare cases where comparisons between blood DNA & tissue DNA/RNA is
      needed (e.g. a mutation identified is predicted to affected splicing which can only be
      verified by studying the RNA from tissues).