Principal Investigator: | Musarella, Maria A. (1) |
Licence Number: | 12288 |
Organization: | The Hospital for Sick Children |
Licensed Year(s): |
1992
|
Issued: | Jan 01, 1992 |
Project Team: | Elise Heon, Carole Panton, Carol Westall, Leslie MacKeen, Sue Ponchillia (liaison) |
Objective(s): To study families affected with the Bardet-Biedl Syndrom in order to localize the disease to a specific chromosome.
Project Description: We plan to study Bardet-Biedl families (with at least 2 affected children) in order to determine if and how the disease is genetically linked. By following the inheritance of a DNA marker in affected families, it is possible to determine whether the disease is gene genetically linked to the DNA marker. A systematic screening of DNA markers (that are distributed over the 22 chromosomes) should then identify the markers linked to at least 1 Bardet-Biedl gene.