Role of a new genetic variant on bone cells’ function

Scientific study title:

The impact of a rare variant of the Wnt1 gene in three types of bone cells.

Principal Investigator:

Laëtitia Michou, MD, PhD, Associate professor, Division of Rheumatology, Department of Medicine, Université Laval

Study Start Date:

January 2022

Study End Date:

December 2022

Why do this research?

Our team has identified a new genetic variant in a family with 2 sisters having unusual fractures of the femur, or thigh bone. This is a rare condition which occurs after several years of treatment for osteoporosis, by a category of drugs called bisphosphonates.

Our findings may suggest a genetic component to this condition, as well as, the effects of using bisphosphonates.

What will be done?

In this study, we will reproduce the genetic variant detected in our patients in different types of bone cells, to develop an in vitro model for the study of atypical femur fractures. We need to understand the interaction between genetic factors and exposure to a medication like bisphosphonate.

Who is involved?

The laboratory team of Dr Michou, including a master student.

How do people get involved?

This study, which will focus on a cellular model. No human participants will be recruited.

Funding Agency

Universite Laval, endocrinology-nephrology axis of Dr. Michou’s training centre.