Dr. Perez-Palma is a bioengineer and a Doctor in Molecular Biosciences. After finishing his studies in Chile, he did a post-doctorate at the genomics center at the University of Cologne, Germany funded by the Dravet Foundation. Since then, Dr. Perez-Palma has specialized in the genetic study of patients with epilepsy and neuro-developmental disorders, focusing on the development of tools for the interpretation of variants. He was a research associate at the Cleveland Clinic until last year, and now he is at the Center for Genetics and Genomics, at the University of Development in Chile.

Here are our introductory comments: 

Hello everyone, and welcome to today’s session. My name is Marta Dahiya; I’m a Syngap parent and a Director of the Syngap Research Fund.

We are very excited to continue the SRF Syngap research fund webinar series. The goal of the series is to empower your communications with clinicians as you get more clear knowledge of SYNGAP. 

We also want to give a plug for our next presentation, "Treatments in development for epilepsy syndromes: opportunities for Syngap1" which will take place on Thurs. Sept 2, 10 am PST/1 pm EST with Dr. Ana Mingorance.

 Our talk for today is “Interpretation of SYNGAP1 Variants”

 I have the pleasure to introduce today’s speaker, Dr. Eduardo Pérez Palma.

 Dr. Perez-Palma is a bioengineer and a Doctor in Molecular Biosciences. After finishing his studies in Chile, he did a post-doctorate at the genomics center at the University of Cologne, Germany funded by the Dravet Foundation. Since then, Dr. Perez-Palma has specialized in the genetic study of patients with epilepsy and neurodevelopmental disorders, focusing on the development of tools for the interpretation of variants. He was a research associate at the Cleveland Clinic until last year, and now he is at the Center for Genetics and Genomics, at the University of Development in Chile. 

A recorded version of this webinar will be available on the SRF website under Webinars on the Family menu.

By the end of this presentation, you will have the opportunity to get the answer to your questions. We’d love to hear from you – please write your question in the Q&A.

For those of you just joining us, welcome, and again our speaker is Dr. Eduardo Perez-Palma, and his talk is “Interpretation of SYNGAP1 Variants”.  

It is now my pleasure to turn things over to Dr. Eduardo Pérez Palma.

Welcome, Dr. Perez Palma

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