Wegener's Granulomatosis Genetic Study - Study Participants Needed!
Status: ongoing
The cause of Wegener’s Granulomatosis (WG) is unknown but there is compelling evidence that suggests a genetic basis for the development of the disease. This study undertaken by Katherine Siminovitch, MD at Mount Sinai Hospital in Toronto endeavors to identify the specific genes predisposing individuals to WG, by means of recent advancements in genomic technologies. In finding this genetic basis of WG, it is our hope that this discovery will allow for earlier disease detection through enhanced diagnostic tools, improved treatment methods for efficacious disease management and most desired-disease prevention.
Since the beginning of the study in 2004, Dr. Siminovitch’s research team has already identified variants in three genes studied and have determined there to be a correlation between these genes and WG. Moreover, we believe that in continuing this research, there will be greater evidence in addition to the aforementionned, supporting a genetic basis of the disease. Establishing this relationship between specific genes and WG will help significantly in developing a greater understanding of this rare, potentially life-threatening disease, affecting anyone of any age. This fundamental understanding of WG, can prospectively lead to improved diagnostic and prognostic tests in conjunction with those already established (ie. ANCA blood testing) as well as therapeutic advancements, preventing such things as irreversible organ damage and significantly minimizing disease severity.
Although, actively recruiting WG patients from 2004, The ‘Identification of Novel Wegener’s Granulomatosis Susceptibility Genes’ study is still currently seeking subject participation as much of the study’s success is dependent on the large DNA sample collections of affected individuals. This large pool of volunteer participants will provide the study researchers with sufficient material on which to do thorough genetic analysis and in turn helping to identify the genes responsible for the disease onset and progression.
The participant would be required to donate a blood sample (with materials provided free of charge by our research team) drawn at their doctor’s office or laboratory. Furthermore, any additional charges that might be incurred by the blood draw can be invoiced to us.
In addition to Wegener patients’ participation, our research team has expanded our study to include immediate family members of affected individuals. The collection of DNA samples from family members (via saliva) will thereby enable us, through a genome wide scan, to do comparative genetic analyses between WG patients and their families. However, the study specifically desires only the parents and/or *full siblings of the study subject to participate.
Note:-All WG patients with an official diagnosis of the disease are eligible to participate, regardless of geographic location, age and gender.
-Participation will be of no charge to the participant-(a) WG patient or (b) family member.
If you are a (a) patient with an official diagnosis of WG OR (b) parent or full sibling of a (a), and you wish to find out more information about the genetic study or would like to participate, please contact the Study Coordinator-Keisha Carrington at 416-946-4501; ext 3297 OR at clinicalgenet.research@gmail.com.
*Full sibling-having both the same biological father and mother.
Some useful links:
1. Vasculitis Foundation Canada: www.vasculitis.ca
2. Vasculitis Foundation: www.vasculitisfoundation.org
SAMUEL LUNENFELD RESEARCH INSTITUTE
MOUNT SINAI HOSPITAL