Research Study

Next-Generation Sequencing for Rare, Highly-Penetrant Mutations in Familial Intracranial Aneurysms
Principal Investigator 
William Gibson

Overview

Body Locations and Systems 
Aneurysm
Status 
Recruiting
Study Start/End 
Feb 13, 2018 to Aug 18, 2020
Locations 
UBC Hospital, Vancouver General Hospital
Name/Title 
Ru Guo, Research Coordinator
Phone 
604-875-4111 ext.61505
Email Address 
ruchen.guo@ubc.ca
Purpose of Study 

The purpose of this study is to identify the first human gene(s) responsible for Familial Intracranial Aneurysms (FIA).

Eligibility 

Inclusion criteria:

  • DISCOVERY COHORT: Affected and unaffected members, of any age, of families with a known history of intracranial berry aneurysms, who are seen through regular clinics at VGH Neurosurgery or BCCH Medical Genetics. Eligible individuals of any age, gender or ethnicity who have a genetic alteration and a malformation and/or physiological disorder classified as a rare disease will be able to participate.
  • REPLICATION COHORT: Individuals who were affected sporadic singleton cases of aneurysms (i.e. without a family history) under the age of 40; OR an individual of any age who was diagnosed with more than one IBA, will also be recruited as the "Replication Cohort". Genetic studies of this nature will also validate the applicability of our findings to members of the general population who have non-familial brain aneurysms.

Exclusion criteria:

  • Individuals not affected with intracranial berry aneurysms and with no family history will not be recruited. 
Disclaimer 

Study Coordinators and Research Nurses cannot give medical advice over the phone. Telephone numbers and email addresses are provided for obtaining additional information on specific research studies only. If you have specific questions which require clinical expertise, please call your primary care physician.