Research Ongoing

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.

Start Date:

January 2022

End Date:

December 2022

Research Category

Arthritis Care, Treatments and Medications

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Why do this research?

Reason For 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.

Methodology

Execution of Research

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?

Involvement

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

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

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