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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. 

Webinar Overview

Dr. Eduardo Pérez Palma is a bioengineer and doctor in molecular biosciences at the Universidad del Desarrollo in Chile. He starts the webinar with the basic concepts of the human genome and the main types of genetic variants. He goes on to talk about how a third of SYNGAP1 variants are variants of unknown significance (VUS) which is a problem when trying to treat disorders. In order to interpret a variant and its relationship with a disease, there are established criteria for determining whether variants are pathogenic, benign, likely pathogenic, likely benign, or VUS. Dr. Pérez Palma compares this interpretation process to solving a crime. He then talks about the bioinformatic methods used to interpret variants and how variants are re-interpreted as new information is discovered. He concludes with how this field is beginning to make predictions of the functional consequences and the phenotypes beyond the pathogenic variant, providing more information to understand neurodevelopmental disorders.

Other Relevant Publications by Dr. Pérez Palma

Epilepsy Genetics and Precision Medicine in Adults: A New Landscape for Developmental and Epileptic Encephalopathies

Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta-analysis

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