WG3. Molecular genetics: guidelines for genomics and functional genomic diagnostics


The objective of WG3 is to improve molecular diagnosing of MCD patients, by improving the analysis of genetic data and identify the most cost-effective tests. An important task of WG3 will be the implementation of NGS into diagnostics, comparison of different techniques and the interpretation of its data, especially unclassified and/or rare variants in both known and novel MCD genes, and to explore functional tests to support variant interpretation. WG3 will form a bridge from the clinic and the diagnostic laboratories to basic scientists and v.v. WG3 will provide suggestions for future research to WG5 and it will reach out to NGS companies.

WG3 aims:

  • Improve molecular diagnostics of MCD patients
  • Develop standardized workflow and best practice guidelines for the molecular genetic diagnosis of malformations of cortical development
  • Explore functional tests to support variant interpretation
  • Establish a variant interpretation review panel

 

Working Group 3 members: Nataliya DiDonato , Carlos Cardoso , Edith Said, Eleonora Aronica, Stefan Barakat, Renzo Guerrini, Fiona Francis, Nathalie Boddaert, Valerio Conti, Elena Parrini, Kerstin Kutsche, Ghayda Mirzaa, Maha Zaki, Jim Barkovich , Hülya Kayserili, Debbie Morris-Rosendahl, Stavit Allon-Shalev, Luis M. Valor, Ivan Capo, Martina Wilke, Enza Maria Valente, Sara Nuovo, Andreas Kremer, Katrien Stouff, Elena Parrini, Valerio Conti, Andreas Christian Hade, Ana Maria Sánchez Pérez, Katrien Stouffs, Andreas-Christian Hade, Elena Domínguez Garrido, Deborah Morris-Rosendahl, Corin Charles Sammut, Federico Zara, Silvia Cappello, Stéphanie Baulac, Soner Dogan, Michele Studer

 

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