Dr. Zoghbi shows how a mouse that has been given the gene responsible for Rett syndrome exhibits some of the same neurological symptoms as human Rett patients.
Prialt does not block the mammalian motor synapse, but blocks the pain pathway in the spinal cord.
Dr. Zoghbi introduces the topic of Rett syndrome by showing how development usually progresses in a young girl. She then shows an excerpt from ...
A patient can both comprehend and articulate language, but cannot verbalize what is a clear idea in her mind.
In the absence of proprioceptive feedback, some individuals can compensate by using visual feedback.
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.
Dr. Huda Zoghbi interviews Milan Cloud, a patient who has inherited the neurological disorder spinocerebellar ataxia 1, or SCA1.
The lecturers, joined by Dr. Kay Jamison of the Johns Hopkins University School of Medicine and Dr. Gerald Fischbach of the Simons Foundation, answer questions concerning autism, manic depression, and other mental illnesses.
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...
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.
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 text transcript of the 2003 Holiday Lectures on Science, Learning From Patients: The Science of Medicine.
A chapter list to accompany the DVD.
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.
A brochure from the 2013 Holiday Lectures on Science.
Recent advances in DNA sequencing technology have led to a better understanding of the many genes that play a role in brain development.
Over the past decade, the application of advanced DNA sequencing techniques has greatly increased our understanding of the genetic basis of autism.