Project: Identify the genetic variants associated with specific clinical features of steroid sensitive nephrotic syndrome in children

Submitted May 31, 2023.
Status: Closed to applications.

Submitter and Affiliations
Information about the submitter of this project:
  • Affiliation: McGill University
  • Degree(s): MD, PhD
  • Specialties: Medical Genetics, Nephrology, Pediatrics
This project is not associated with any external affiliations.
Tags
Medical Genetics
Nephrology
Pediatrics
Retrospective Research
Description

Nephrotic syndrome is the most common cause of kidney disease in children worldwide, with up to 3000 Canadian children newly diagnosed each year. Most children respond to first-line treatment with corticosteroids and are labelled as having steroid sensitive nephrotic syndrome (SSNS). There is enormous phenotypic variability in SSNS, ranging from an isolated episode to a severe relapsing course to dependence on ongoing immunosuppression to maintain remission; the cause of this variability is largely unknown and I hypothesize that genetic determinants play a role. In this project, I will correlate the specific clinical features of SSNS in 749 children with their genetic variants by (broadly) using linear regression analysis. This study will determine if there are genetic variants that can predict SSNS phenotype, which will then allow us to risk stratify patients with SSNS to optimize treatment regimens. 

For this project, the applicant will be required to collect the specific clinical information from my database of children with SSNS. This would include demographic information, number of disease relapses, medications and dosages, time to remission during initial episode, etc. I will later use this information to relate it to the genetic information collected on the same children. 

 

Roles and Responsibilities
The applicant will be required to collect the clinical information as outlined above from my patient database.
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    Approximate time commitment:
    2 hours per week over a period of 24 weeks.

  • Nov. 1, 2023
    Application deadline

    Apply by the deadline

  •  
    Application received

    PI considers yours and other applications

  •  
    Decision of interest

    PI decides if they are interested in your application.
    If so, we put you in contact.

  •  
    Discussion and start

    You and PI confirm your role and you begin work

  •  
    Work

    Expected time commitment: 2 hours per week for 24 weeks

  • May 1, 2024
    Date of project completion

    Congrats!