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  • The Search for a Mutated Gene

    The Search for a Mutated Gene

    Scientists at Work

    (8 min 54 sec) How do you identify the disease-causing mutation in a patient with an inherited disease? This video illustrates the steps involved—testing for genes that are the “usual suspects,” searching for mutations in novel genes, and assessing links between genotype and phenotype.

  • Origin of a Gene Mutation Causing Early-Onset Alzheimer’s Disease

    Origin of a Gene Mutation Causing Early-Onset Alzheimer’s Disease

    Data Point

    A team of scientists built a pedigree of a large extended family in Antioquia, Colombia, that has a high prevalence of early-onset familial Alzheimer’s disease due to a mutation in the PSEN1 gene. Worksheets also available in Spanish.

  • Identifying Autism Genes by Tracking Gene Mutations

    Identifying Autism Genes by Tracking Gene Mutations

    Data Point

    A team of scientists used homozygosity mapping to map SNPs on chromosome 3 in a family with an autistic son to identify a likely gene that caused the disorder.

  • Testing a Hypothesis

    Testing a Hypothesis

    Activity

    A worksheet designed to actively engage students as they watch the film. Students are asked to answer questions pertaining to the information provided in the film.