The meeting will be through Zoom on Friday, February 19, 2021 at 8 am EST and 2 pm CET.
El Fondo de Investigación SynGAP is the part of SRF that serves Latin America. Two SRF board members, Victoria Arteaga and Marta Dahiya were born in Colombia and are committed to making the knowledge and support that SRF provides in the United States and the United Kingdom available in Latin America.
Since 2019, SRF has held annual “Roundtables” where expert clinicians and researchers have come together to share knowledge about SYNGAP1. (Read about the 2019 and 2020 roundtables). These events enhance collaboration and ensure that clinicians are aware of current research. We know that there are many patients in Latin America, but SynGAP is a disease that often goes undiagnosed. In order to help solidify the community of researchers, doctors and patients in Latin America and help them as much as possible, we have decided to have a similar roundtable event in Spanish.
AGENDA Eastern Time (EST):
Moderators: Ana Mingorance and Andres Jimenez
8:00 am Andrés Jiménez Gómez, MD, Joe DiMaggio Children’s Hospital (USA ) – General characteristics of the epileptic encephalopathy and development in SYNGAP1
8:30 am Angel Aledo-Serrano, MD,PhD,Hospital Ruber International Clinic & Corachan (SpainnA)- Types of seizures and patterns in electroencephalograph in SYNGAP1
9:00 am Sandra Catalina Mesa Restrepo, MD, Pablo Tobon Uribe Hospital (Colombia) – Epileptic encephalopathies: diagnostic experience of a group from the city of Medellín
9:30 am Orlando Carreño, MD, CENPI Comprehensive Neuropediatric Care Center (Colombia) – Myths and truths in the management of epileptic encephalopathies: experience in Colombia
10:00 am Carlos A. Zuluaga, MS, BCBA ABA Technologies, Inc. (USA) – The ABA (applied behavior analysis) and its Contribution to P Subtraction of Services to Develop Skills
10:30 am Juliana Ribeiro Constant, MD, Projecto SYNGAP1 (Spain) – Project: Spanish record SYNGAP1 – natural history and study of sleep, Share4Rareplatform
11:00 am Alex Bayes,PhD,Biomedical Research Institute Sant Pau (SpainnA)- Molecular alterations in the proteome synaptic caused by deficiency SYNGAP1
11:30 am Ana Mingorance,PhD,Dracaena Consulting / Loulou Foundation (SpainnA)- developing treatments for epilepsy syndromes: opportunities for SYNGAP1
12:00 pm Eduardo Perez Palma,PhD, Center for Genetic and Genomics, Universidad del Desarrollo, Santiago (Chile) – Interpretation of variants in SYNGAP1
12:30 pm Maria Isabel Carreño-Muñoz, PhD, Université de Montréal | UdeM · Sainte-Justine University Hospital Center Research Center (Canada) – Alterations in the electrophysiological patterns underlying sensory perception and their use as biomarkers of Syngap1. Funded by Overcome SynGAP1 Canada.
1:00 pm Marcelo Coba, PhD, University of Southern California (USA) – How and why use human cell models to study Syngap1
1:30 pm Marta Dahiya, MD, Scientific Director SYNGAP Research Fund (USA) – Citizen – SRF: How to use technology to increase access to rare disease research
1:45 pm Victoria Arteaga, MBA Latin American Director SYNGAP Research Fund (USA) – The importance of the Syngap Research Fund to foster support and knowledge among Syngap families1
2:00 pm Questions and Answers – Closing
Alex Bayes, PhD: Doctor in Biochemistry, Neurobiology and Neurosciences. His lab is interested in understanding the molecular biology of the synapse and how it relates to higher brain functions such as cognition, memory, and learning. His laboratory is currently working with animal models of intellectual disability caused by genes specifically expressed in postsynaptic density (SYNGAP1 and SHANK2).
Andrés Jiménez Gomez, MD: Surgeon of the Pontificia Universidad Javeriana (Bogotá, Colombia); Pediatric and Global Health Specialist (Cincinnati Children’s Hospital); Child Neurologist and Specialist in Neurodevelopmental Disabilities (Texas Children’s Hospital). He currently conducts research on neurodevelopmental disorders, autism spectrum disorders, and neurogenetic disorders including SYNGAP1 and SHANK3. Interested in medical education and efficient management of highly complex diseases in emerging economies. @dretico
Angel Aledo-Serrano, MD / PhD: Epileptologist at Hospital Ruber Internacional (Madrid) & Clinica Corachan (Barcelona). He is currently conducting research on complex epilepsies, both in pediatric and adult patients. He is very active in the social aspects of patients with epileptic and developmental encephalopathies in different areas, such as scientific advice and collaboration with patient foundations. @AAledo
Ana Migorance, PhD: Neuroscientist dedicated to consulting for biotechnology / pharmaceutical companies and specialist in genetic epilepsy syndromes and orphan drug development. She is a strong advocate for patient involvement in drug discovery and development. @CNSdrughunter
Carlos A. Zuluaga, MS, BCBA: Master of BCBA and is part of ABA Technologies, Inc., which aims to help spread the behavior analysis around the world. In his profession he is dedicated to understanding human behavior and improving the quality of life of people. He is a co-instructor in the Applied Behavior Analysis Professional Development Program at Florida Institute of Technology (Florida Tech) since 2010. Working in early intervention, for seven years.
Eduardo Pérez-Palma, PhD: Eduardo is a bioengineer and a Doctor in Molecular Biosciences. After finishing his studies in Chile, he did a post-doctorate at the genomics center of the University of Cologne funded by the Dravet Foundation. Since then, Eduardo has specialized in the genetic study of patients with epilepsy and neurodevelopmental disorders, with a particular focus on the development of tools for the interpretation of variants. @EdoPerezP
Juliana Ribeiro Constante, MD: has a degree in medicine from the University of Rio de Janeiro (Brazil), with a specialty in pediatrics. Later, he continued his training at the Sant Joan de Déu Hospital (Barcelona), currently studying a master’s degree in Neuropediatrics from the University of Barcelona. Throughout his training and clinical experience, he has delved into the biochemical, molecular and genetic bases of brain metabolism, and has developed a special interest in the knowledge of neurometabolic diseases and synaptopathies. Actively participates as a pre-doctoral clinical researcher in the “SYNGAP1 Spain” project, within the framework of developmental encephalopathies research.
Marcelo Coba, PhD: Associate Professor of Psychiatry and Behavioral Sciences. The long-term goal of his laboratory is to determine how genetic variants affect synaptic function, not from the individuality of each neuron but from the neural network. His laboratory hopes to define maps of the neural network that allow us to treat patients with more precision according to their corresponding alterations.
Maria Isabel Carreno-Munoz, PhD: PhD in computational neuroscience specialized in in-vivo electrophysiology, behavioral studies and time series analysis. She currently works as a postdoctoral researcher at the Dra Di Cristo Laboratory, which is interested in the characterization of the molecular, cellular and functional bases of the development of the infant brain. For this, they use animal models of autism spectrum disorders, mainly Syngap1. Dr. Sarah Lippé’s laboratory investigates electrophysiological patterns in patients with autism spectrum disorders, including Syngap1 patients.
Orlando Carreño Moreno, MD: Child neurologist and specialist in epilepsy, Therapeutic cannabinoids, ADHD, Neurodevelopment, Artificial Intelligence and Big Data. Researcher in antiepileptic treatments, drugs, Neuromodulation, VNS, DBS, Botulinum Toxin, Baclofen, Medicinal Cannabis. Advisor on public health policies to government and private entities. @ocarrenom
Sandra Catalina Mesa Restrepo, MD: Child Neurology University of Antioquia with training in innate errors of metabolism at Hospital Sant Joan Deu in Barcelona. He has more than 10 years of experience working in the diagnosis and treatment of neurometabolic and neurogenetic diseases at the Pablo Tobón Uribe Hospital in the city of Medellín. Member of the group of innate errors of the metabolism of said institution.
Marta Dahiya, MD: She is originally from Colombia, where she studied medicine. She came to the United States of America to complete her medical education and specialized in oncology. Marta is the mother of a girl with Syngap1 disorder. Marta’s role at the Syngap Research Fund is in special projects that include awareness and support for Hispanic patients and families. It also helps with our educational mission.
Victoria Arteaga, MBA: Born in Colombia, graduated from International Business, specializing in Political Studies and Geopolitics from EAFIT University and MBA from Florida Atlantic University. He has a daughter with SYNGAP. From the moment she received her daughter’s diagnosis, she knew the challenges that the diagnosis represented, especially in Latin America, Victoria and her husband Juan decided to get involved and actively participate and help the Hispanic community in the USA and Latin America in order to promote the inclusion, raise awareness and seek a cure for this rare disease.
Register through this link: Syngap.Fund/cc1.
The meeting will be through Zoom on Friday, February 19, 2021 at 8 am EST and 2 pm CET.