HomeHHMI's BioInteractiveThe Strength of Families: Solving Rett Syndrome

BioInteractive

Free Resources for Science Education

 
Lectures
The Strength of Families: Solving Rett Syndrome

Summary

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.

Play Lecture
(Duration: 58 min 32 sec)

Girls with Rett syndrome develop normally for about 18 months and then begin to regress.  Eventually, they have difficulty walking, speaking, and even using their hands.  With the help of affected girls and their families, Dr. Zoghbi and her collaborators searched for the gene responsible for this neurological disorder.  After 16 years, they found the gene, called MECP2, on the X chromosome.  It encodes a protein essential to the normal functioning of nerve cells in the brain.  Mutations in the gene disrupt the activity of neurons early in life, when they are forming critical connections.  Dr. Zoghbi discusses how identification of this gene should lead to better methods for diagnosing and treating Rett syndrome.

Related Scientists

Investigator

Additional Materials

Bulletin Article
Bulletin Article