Principal Investigator: Joshua Bonkowsky
Keywords: neurology , leukodystrophy , pediatrics , genome , sequencing Department: Pediatric Administration
IRB Number: 00097808
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 at least two first-degree relatives are not available for the sequencing.