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Showing 1-20 of 23 Resources
  • 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.

  • Cancer as a Genetic Disease: Video Highlights

    Cancer as a Genetic Disease: Video Highlights

    Clip

    (8 min 32 sec) In this video Dr. Charles Sawyers provides an overview of the types of genes that, when mutated, can lead to the development of cancer. Also available in Spanish.

  • 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.

  • 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.

  • Cancer As a Genetic Disease

    Cancer As a Genetic Disease

    Lecture

    (58 min 33 sec) Understanding that cancer is caused by mutations in genes that regulate cell proliferation has led to the development of targeted drug therapies.

  • 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.

  • 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.

  • Origin of HIV

    Origin of HIV

    Clip

    (5 min 32 sec) Dr. Beatrice Hahn's research has traced the origin of HIV to chimpanzees in Cameroon.

  • 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.

  • Chaos to Cure: Bringing Basic Research to Patients

    Chaos to Cure: Bringing Basic Research to Patients

    Lecture

    (58 min 32 sec) The identification of hundreds of genes involved in the formation and spread of cancer is leading to promising new methods for diagnosis, prevention, and treatment.

  • Research Mechanics: Putting the Brakes on Cancer

    Research Mechanics: Putting the Brakes on Cancer

    Lecture

    (58 min 32 sec) Although there are numerous kinds of cancer, all stem from alterations that allow cell division to outstrip cell demise.

  • 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.

  • The Kidney's Tale: Of Salt and Hypertension

    The Kidney's Tale: Of Salt and Hypertension

    Lecture

    (1 hr 3 sec) Molecular genetic approaches have identified genes that, when mutated, cause either increased or decreased blood pressure.

  • Heartbreak: Of Mutations and Maladies

    Heartbreak: Of Mutations and Maladies

    Lecture

    (58 min 28 sec) Although heart disease typically occurs after middle age, seemingly fit and healthy young individuals can die suddenly from unrecognized heart disease.