4th ECR-PCD Early Career Researcher Symposium: Genetics for PCD diagnosis: basics and pitfalls

Wednesday, July 7th, 2021

4 PM – 5:30 PM BST

5 PM – 6:30 PM CET

What is this talk about?

Primary ciliary dyskinesia (PCD) is a highly heterogeneous genetic condition as more than 50 genes have been implicated and as many mutations have been characterized in a single family. There is no single gold standard test to confirm PCD whose diagnosis is based on a combination of investigations. We will see the current genetic approaches (and their limits) in diagnostics and research. You will learn the basics for assessing the pathogenicity of a variant, in a diagnostic or research framework. Examples will illustrate frequent pitfalls and challenges in PCD genetics (e.g. variants of unknown significant, high frequency of PCD mutation carrier in the general population). You will learn how to use online tools to find the frequency of a variation in a population and how to assess if a specific amino-acid is conserved throughout evolution.

About Dr Marie Legendre:

Dr Marie Legendre is a molecular geneticist in Hôpital Trousseau in Paris. She oversees molecular and cellular diagnostics of several rare diseases such as developmental (pituitary deficits and midline defects) and respiratory disorders (surfactant disorders and PCD). She did her PhD in Human Genetics (Sorbonne Université, Paris). One of her main research topics focuses on motile ciliopathies: search for new disease-causing genes and phenotype/genotype correlations, with the aim to better understand the pathophysiology of this heterogeneous condition.

Registration:

Click here.

The Meeting link will be sent out 24 hours before the event!