Intestinal Disease Biobank: Genetic, Functional, and Microbial Studies in Intestinal Disease, Canada

Registration Status: Pending

Objective: Intestinal diseases in children make up a diverse group of diseases including genetic, structural, and acquired diseases. Many of these diseases have genetic causes or genetic susceptibility. Understanding the genetic causes of these diseases will be critical in uncovering the genetic causes and developing new treatments for these diseases. Our ongoing studies focus on Inflammatory Bowel Disease, intestinal failure, and will also include other rare intestinal diseases such as chronic granulomatous disease (CGD). LONG-TERM OBJECTIVES: 1) To determine the genes which cause or confer susceptibility to intestinal diseases. 2) To determine the functional consequences of identified genetic variants in intestinal diseases. 3) To identify putative host and microbial factors associated with intestinal diseases. 4) To examine the environmental and sociodemographic risk factors and evaluate health related outcomes in patients diagnosed with intestinal disease.

Registered Biobank Name	Intestinal Disease Biobank: Genetic, Functional, and Microbial Studies in Intestinal Disease
Biobank Leader	Karoline Fiedler
Country	Canada
Email for biobank inquiries	karoline.fiedler@sickkids.ca
Principal Investigator	Dr. Aleixo Muise
Website
User Type Mono: A biobank that supports a specific research project, may have few staff members, a small-scale accrual scope with little to no initial intention of releasing or distributing biospecimens to secondary parties Oligo: A biobank that supports several research groups or clinical trials, may or may not be designed to release biospecimens outside their collaborative group Poly: A biobank that has generally a larger accrual scope, resources, and multiple users outside the biobank proper

Biospecimen Collected:

Cohort Highlights

100 cases Next Generation Sequencing assay to detect all classes of genetic variant in Lung Cancer using a single Diagnostic test.
200 cases Colorectal TMA for QC purposes in support of study of tumor infiltrating lymphocytes in ovarian cancer tissues.
Build 300 cases breast cancer TMA containing primary tumour and matched metastatic LN for various subtypes (luminal, HER2, Triple negative). Start with Triple negatives.
125 cases Breast tumour and metastatic lymph nodes in breast cancer cases with outcomes of metastasis to lung or bone.
100 cases of rare tumours - fibrolamellar hepatocellular carcinoma. FFPE, frozen, BC.
200 cases of FFPE tissue sections from breast, lung adenocarcinoma, and lung squamous cell carcinoma with matching normal tissue (only pathology data requested).