Travel story: Duyen Pham

Duyen Pham from the Robinson Research Institute attended the 4th World Conference on PCDH19 Conference in Rome, Italy in November 2017.

Duyen presented her work, Integration of in silico and experimental assessment of disease-relevance of PCDH19 variants.

This is what Duyen had to say about her experience in Italy.

What was a highlight of the conference?

Meeting with the families of affected girls, which provided the opportunity to express the direction of our research to them and answer their questions and concerns.

Did you attend any workshops or satellite meetings associated with the conference?

I attended group meetings after the conference. Our group was chaired by Prof Christel Depienne and the discussion was on PCDH19 variants in patients. An update of all the published disease-causing PCDH19 variants was put together in our systematic review to examine any potential genotype-phenotype correlations of these variants (e.g. missense variants versus truncating variants). Unfortunately, no correlation. The only correlation found was early seizure onset led to more severity of the disorder. We also discussed about the PCDH19 missense variants located in the C-terminal region of the protein and whether these variants are also causing disease. We discussed examining the X-Chromosome inactivation status in the right tissues (e.g. brain) of carrier females to investigate if X-inactivation related to the disease phenotype.

Did you meet any researchers or collaborators of significance? Why are they important to your work?

I met a lot of wonderful clinicians and researchers at the conference, which I believe will be important for our research in one way or the other. However, the researchers that may be most relevant to our work include: Dr Francesca Squillante, Dr Carla Marini, Prof Christel Depienne and Dr Maria Passafaro. We discussed our literature review of the neuropsychiatric profile of PCDH19 girls, which we have recently submitted to the journal of Molecular Psychiatry and received positive feedback from the panel. We also spoke about the PCDH19 gene variants of unknown significance and what is the best method to test these variants and determine their role.

How will the experience support you and your research going forward?

Provide a clearer and more decisive direction in expected outcomes towards helping patients and their families.

What was the most exciting thing you learned/experienced at the Conference?

I had a face to face conversation with one of the affected girl’s father and hear his experience of day-to-day occurrences with his daughter.

What was the most interesting or unexpected moment of your travel?

I was very pleased to be seated next to Prof Christel Depiene and Prof Eric LeGuern at the conference dinner. We talked about our PCDH19 research and discussed about the future of medical research in Australia, France and Germany.

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