Solve the mystery of rare and ultra-rare genetic diseases

The Translational Genomics Hub (TGH or Hub) is a research platform designed to help families affected by undiagnosed disease where a clear genetic cause could not be found through initial genetic testing and where there is a need for further experimental work to find a causative variant. 

The Hub is designed to remove many of the barriers for busy clinical investigators by taking care of the ethics requirements, much of the enrollment process, sample collection, logistics and tracking, and by facilitating access to local scientists and funding, which the investigator may not even be aware of.

The Hub is led by Todd Alexander (pediatric nephrologist and WCHRI associate director) and Oana Caluseriu (clinical geneticist) and is supported by a multi-disciplinary advisory committee composed of clinicians and scientists committed to enabling the application of cutting edge research approaches to generate insights into a variety of disease mechanisms.

The Hub is currently accepting research cases from clinician investigators in the Departments of Medical Genetics and/or Pediatrics. In order to be eligible, at this time, all cases must have a relevant variant of unknown significance (VUS) with practical implications or a candidate gene that could be worked up.

Research case submission and review process:

  • Use the TGH Case Submission Template and Guidelines to prepare a 1–2-page summary that includes the patient’s phenotype, the variant to be studied, all the supportive molecular and biological information to make the case. While not a requirement, you may add a plan for how to study your variant (functional studies), any preliminary data you may have and any UofA basic researcher(s) who you would like to work with. 
  • Submit your summary to WCHRI TGH research coordination by one of the submission deadlines listed below. The WCHRI TGH research coordinator will invite you to the next available TGH advisory committee so that you can present and discuss your case with the scientific advisory panel. 
  • Prepare a ~10min presentation for the TGH advisory committee meeting – you will have ~20min for presentation and questions. Note that all committee meetings will be virtual.

The committee will evaluate all the information brought forward and will get back to you with a decision on your submission. If selected, the Hub will try to make a connection for you locally and provide some seed funds (as required by the project). If no expertise is available locally, we may be able to recommend an outside connection.

We will be able to review about two cases at each meeting. If we receive more than two submissions (first come, first served or by clinical priority), the remaining cases will be reviewed the following month.

In addition to the case submissions mentioned above, we will also be accepting referrals for exome reanalysis from all physicians for patients who’ve undergone whole exome sequencing (in the last two years) through Blueprint Genetics with negative or inconclusive results. The raw genetic data from this testing, is acquired and re-analyzed using bioinformatics technologies to rule out another cause or to identify a candidate variant (either in a known or novel gene). We are also aiming to set up data repatriation from other genetic laboratories in the future.

Please contact WCHRI TGH research coordination if you are interested in receiving more information about exome reanalysis.

Upcoming submission deadlines (4 p.m.)

Upcoming TGH advisory committee meeting dates (all meetings are from 4:30-6 p.m. and will be held virtually)

February 8, 2024

February 15, 2024

April 11, 2024

April 18, 2024

June 13, 2024

June 20, 2024

October 10, 2024

October 17, 2024

November 14, 2024

November 21, 2024

For more information about the Hub, please contact Todd Alexander and/or Oana Caluseriu.