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  • Genetic Mutations and Disease Interactive

    Genetic Mutations and Disease Interactive

    Click & Learn

    This interactive focuses on the roles of germline and somatic cell mutations in human disease. It supports the 2013 Holiday Lectures on Science, Medicine in the Genomic Era.

  • Alzheimer’s Disease: Piecing Together the Evidence

    Alzheimer’s Disease: Piecing Together the Evidence

    Click & Learn

    This interactive explores evidence from brain anatomy, tissue histology, and genetic studies to reveal possible targets for the treatment of Alzheimer’s disease.

  • 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.

  • Plaque Attack

    Plaque Attack

    Image of the Week

    An amyloid plaque (in purple) is surrounded by branches of damaged neurons (multiple colors) in the brain of a mouse with Alzheimer’s disease.

  • Reckless Growth

    Reckless Growth

    Image of the Week

    The organization of cells in a healthy mouse intestine is lost in a growing tumor.

  • Dante's Story

    Dante's Story

    Clip

    (6 min 6 sec) Dante is a 10-year-old boy born with hemimegalencephaly—an enlargement of half his brain.

  • Meet Dante—A Young Boy with Hemimegalencephaly

    Meet Dante—A Young Boy with Hemimegalencephaly

    Clip

    (2 min 33 sec) Dante is a healthy 10-year-old boy who has had half his cerebral cortex surgically removed to treat his seizures.

  • Autism and the Structure and Function of Synapses

    Autism and the Structure and Function of Synapses

    Animation

    (2 min 3 sec) Genes associated with autism affect the structure and function of neuronal synapses.

  • Genomic Medicine, Autism, and Cancer

    Genomic Medicine, Autism, and Cancer

    Lecture

    (37 min 26 sec) A student discussion with the lecturers of the 2013 Holiday Lectures on Science.

  • Decoding the Autism Puzzle

    Decoding the Autism Puzzle

    Lecture

    (58 min 5 sec) Over the past decade, the application of advanced DNA sequencing techniques has greatly increased our understanding of the genetic basis of autism.

  • Sizing Up the Brain Gene By Gene

    Sizing Up the Brain Gene By Gene

    Lecture

    (59 min 32 sec) Recent advances in DNA sequencing technology have led to a better understanding of the many genes that play a role in brain development.

  • Genetic Mutations and Disease

    Genetic Mutations and Disease

    Poster

    The poster for the 2013 Holiday Lectures on Science, Medicine in the Genomic Era, illustrates the difference between germline and somatic cell mutations.

  • Medicine in the Genomic Era

    Medicine in the Genomic Era

    Lecture

    In the 2013 Holiday Lectures on Science, leading medical researchers explain how advances in genomics are revolutionizing their work, leading to a better understanding of disease and to improved treatments.

  • The Making of the Fittest: Natural Selection in Humans

    The Making of the Fittest: Natural Selection in Humans

    Short Film

    (14 min 3 sec) In some parts of the world, there is an intimate connection between the infectious parasitic disease malaria and the genetic disease sickle cell anemia. Also available in Spanish

  • Exploring Obesity: From the Depths of the Brain to the Far Pacific

    Exploring Obesity: From the Depths of the Brain to the Far Pacific

    Lecture

    (58 min 29 sec) Dr. Friedman shows how leptin rewires neural circuits, and how population studies may identify obesity genes.

  • Deconstructing Obesity

    Deconstructing Obesity

    Lecture

    (58 min 20 sec) Dr. Friedman introduces the genes and circuits that control appetite, including the key role of leptin.

  • The Strength of Families: Solving Rett Syndrome

    The Strength of Families: Solving Rett Syndrome

    Lecture

    (58 min 32 sec) Girls with Rett syndrome develop normally for about 18 months and then begin to regress. With the help of affected girls and their families, Dr. Zoghbi and her collaborators searched for the gene responsible for this neurological disorder.

  • A Healthy Nervous System: A Delicate Balance

    A Healthy Nervous System: A Delicate Balance

    Lecture

    (58 min 32 sec) Mutations in key genes can lay waste to the nervous system. By studying large families predisposed to developing these genetic disorders, scientists can identify the responsible altered gene.

  • Learning from Patients: The Science of Medicine

    Learning from Patients: The Science of Medicine

    Lecture

    As part of the 2003 Holiday Lectures on Science, Dr. Bert Vogelstein and Dr. Huda Y. Zoghbi discuss how their patients have led to a deeper understanding of the genetic and molecular bases of neurological disorders and cancer. Thanks to these patients, researchers can now apply the knowledge gained to diagnosis, prevention, and the search for cures.

  • SCA1 Mouse on Rotarod

    SCA1 Mouse on Rotarod

    Clip

    (35 sec) Dr. Zoghbi demonstrates how mice that have been given the gene responsible for spinocerebellar ataxia 1 (SCA1) are tested on a device called a rotarod to quantify the amount of ataxia present.

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