Translational Genomics Hub

The Translational Genomics Hub (TGH) is a WCHRI research platform designed to lower barriers to genomics research, solve rare diagnostic mysteries, and enable new therapies for prenatal and childhood conditions.

Key Infrastructure & Capabilities

• Integrated Clinical & Research Networks: Connects clinical care at Stollery Children’s Hospital and Lois Hole Hospital for Women (Prenatal Genetics Clinic) with University of Alberta research infrastructure. TGH collaborates with Canadian partners for advanced sequencing (WES and RNA-seq) and bioinformatics tools.
• Automated Exome Reanalysis: Facilitates clinical exome repatriation for enrolled study participants. Participant data is stored securely in the UofA Data and Analytics Research Core (DARC) and enters an automated pipeline for routine research reanalysis, applying the latest genomic findings to unresolved cases.
• Scientific Review & Seed Funding: Cases brought to the TGH Scientific Advisory Committee receive multidisciplinary review. Approved projects are eligible for seed funding (~$5000) for functional assays and candidate gene workups through infrastructure. 
• Clinical Research Operations Support: Dedicated WCHRI research coordination team manages study ethics, AHS operational approvals, data agreements, participant consent, and sample routing under formal Standard Operating Procedures (SOPs).

Case Submissions & Exome Repatriation

• Case Eligibility: In alignment with WCHRI’s mission to transform women’s and children’s health, TGH accepts cases from clinicians (primarily Medical Genetics, Pediatrics, Oncology) where a clear genetic cause could not be found through initial clinical genetic testing and where there is a need for further experimental work to find a causative variant. 
• Submission Process:
  1. Complete the TGH Case Submission Form summarizing the clinical case to the best of your ability.
  2. Submit the form by 4:00 p.m. on the scheduled submission deadline.
  3. Prepare to present a ~10-minute overview (followed by 10 minutes of Q&A) at a virtual TGH Scientific Advisory Committee meeting.
• Exome Repatriation Referrals: Physicians and Genetic Counsellors can refer patients who underwent Whole Exome Sequencing (WES) within the last two years (e.g., via Blueprint Genetics) with negative or inconclusive results for raw data acquisition and reanalysis. Contact WCHRI TGH research coordination (TGH.research@albertahealthservices.ca) if you are interested in receiving more information about exome reanalysis.

TGH Scientific Advisory Committee Meeting Schedule

Meetings take place virtually from 4:30 – 6 p.m. Case submissions are due by 4:00 p.m. on the case submission deadline date.

Related Genomics Platforms 

Looking to expand your study with large-scale control datasets or global rare disease cohorts? Explore these partner platforms:

• All of Us Research Hub: Access 250k+ diverse whole genomes and EHR data for population-level controls.
• Genomics England Research Network: Cross-query international rare disease cohorts to validate novel candidate variants.

Leadership & Contacts

• Academic Leads: Dr. Todd Alexander & Dr. Oana Caluseriu
• Staff Leads: Tanya Voth & Cheri Copitorne (Research Coordinator)
• Inquiries: Contact the team