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. Note that soon we will be able to take cases that are very likely of a genetic etiology, but without a known genetic defect for reanalysis of exomes.
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 Farah Hassan, WCHRI research coordinator, by one of the submission deadlines listed below. Farah 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.
|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)|
|September 15, 2022||September 22, 2022|
|October 13, 2022||October 20, 2022|
|November 10, 2022||November 17, 2022|