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Intro Lecture 1 NotesHow does a biologist approach disease?Gene->protein->complex->organelle->cell->tissue->organ->systemAnatomical/Physiological/Biochemicale.g. Sickle Cell Anemia:base change->valine 6 for glutamate 6 in beta globin chain-> deoxy form insoluble->polymerizes->distorts RBCs->microinfacts, bone pain, spleen and kidney damageUnderstanding does not always lead to treatment, but often it does:e.g. insulin for diabetesHow do biologists communicate results: papersTitle, intro, methods, results (figs), discussionHow does a clinician approach disease? Patient-based (case-based)H&P standard formatChief Complaint (CC)History of Present Illness (HPI)Past Medical History (PMH)Review of Systems (ROS)Family History (FHx)Social and Environmental History (SocHx/EnvHx)Medications and AllergiesPhysical ExamLaboratory DataAssessment and PlanDiagnosis:1. Localization2. Differential DiagnosisCategories of Neurological Disease:Trauma/Mechanical: e.g. subdural hematoma, herniated diskVascular: e.g. infarct, migraineEpilepticCSF Circulation: e.g. hydrocephalusToxic/Metabolic: drugs, electrolytes, endocrine, nutrition, organ failureInfections: bacterial meningitis, AIDSInflamatory/demylenating: e.g. MSNeoplastic: brain cancerDegenerative: Alzheimers, Parkinson’s, Huntington’sDevelopmental: inborn error of metabolism-Tay-Sachs, MR, autism etc.Referred (e.g. left arm pain due to cardiac ischemia)PsychOther non neuroWhy is Neurobiology of Disease especially challenging?Complexity of pathophysiology e.g. Huntington’s Disease: 1983 genetics (Wexler), 1993 gene: Huntingtin, trinucleotide repeats (CAG -> polyglutamine) ->->-> degeneration of medium spiny cell in striatum->->-> Chorea, psychosis, eventual death but how?Much worse for polygenic diseases where diagnosis is clear (e.g. schizophrenia, autism)Still worse for some disease where diagnosis is unclear: schizoaffective disorder:Why is this an exciting time in the Neurobiology of Disease?1. Genetics: human genome, transgenic animals, homologous genes in simple organisms, mammals2. Genomics/Proteomics/Interactomics3. Cellular Biophysics in mammals4. Imaging: cellular/subcellular with 2-photon, cognitive w/ fMRI etc.5. Computational/infomatic: neural modeling, bioinformatics,


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Brandeis NBIO 146A - Intro Lecture 1 Notes

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