Whole Genome Sequencing of Leukodystrophies

Principal Investigator: Joshua Bonkowsky
Keywords: neurology , leukodystrophy , pediatrics , genome , sequencing Department: Pediatric Administration
IRB Number: 00097808 Co Investigator:  
Specialty: Pediatric Neurology
Sub Specialties:
Recruitment Status: Recruiting

Contact Information

Joshua Bonkowsky
joshua.bonkowsky@hsc.utah.edu
8012133599

Brief Summary

The objective of this study is to use whole genome sequencing in patients with undiagnosed leukodystrophies in order to find the cause of their leukodystrophy.

Inclusion Criteria

Any person with an inherited leukodystrophy.

Exclusion Criteria

Patients will be excluded if no parents or siblings are available for the study, as we will need to analyze at least two immediate unaffected relatives for the sequencing.