A Symposium about Syngap1 and Related Disorders

The Syngap1 Symposium 2021 brings together exceptional scientists from around the world with the incentive to advance Syngap1 research, build networks, stimulate collaboration and coordinate efforts. 

15 – 16
MAR 2021

Due to the Covid 19 pandemic, this year’s symposium will take place over the internet.

What is Syngap1?

Syngap1 is a protein that is critical for the development of cognition and proper synapse function. Mutations in the Syngap1 gene lead to a rare neurodevelopmental disorder. Currently, about 400 children are diagnosed world-wide with this disease. Mutations in Syngap1 are associated with intellectual disability and are proposed to play a significant role in other diseases such as epilepsy, autism spectrum disorders and schizophrenias. 

Our Mission

The non-profit organization Leon&friends e.V. is the main organizer of the Syngap1 Symposium and wants to inform the public and the scientific community about the disease and the current, high-class ongoing research. The idea is to bring together  scientists to inform about recent developments in the research field, exchange ideas and present cutting-edge technologies that can be used for research on Syngap1.

About the Event

The Syngap1 Symposium 2021 will take place from March 15th to 16th. Due to the current pandemic, we’ve decided that this year’s event will take place online. The event’s public sessions can be attended free-of-charge (email registration required). Check out the schedule for a detailed overview on lectures and topics. 

List of Speakers

Richard Huganir
Baltimore, USA

Simon Hippenmeyer
Klosterneuburg, AT

Àlex Bayés
Barcelona, ESP

Vanja Nagy
Vienna, AT

Gaia Novarino
Klosterneuburg, AT

Frank Edenhofer
Innsbruck, AT

Michael Courtney
Turku, FIN

Marcelo Pablo Coba
Los Angeles, USA

Noboru Komiyama
Edinburgh, UK

Matthias Jung
Halle, GER

Mimoun Azzouz
Sheffield, UK

Jimmy L. Holder
Texas, USA

Gerhard Kluger
Vogtareuth, GER

Maria Isabel Carreño Muñoz
Montreal, CA

Eric Hosy
Bordeaux, FR

Ryuichi Nakajima
Toyoake, Japan


Time Zone: CET (UTC/GMT +1 hour)

  • Monday, 15th March
  • Tuesday, 16th March

13:45 - 14:00

Welcome address by EU commissioner Dr. Stella Kyriakides read by Verena Schmeder, first chairwoman Syngap Elternhilfe
Opening address by Sandra Apler, Leon & Friends

14:00 - 15:00

Keynote lecture 1: Gaia Novarino, Klosterneuburg, Austria: "Convergent molecular pathways in neurodevelopment disorders" (Chair: Frank Edenhofer)

15:00 - 15:30

Vanja Nagy, Vienna, Austria: “Modeling intellectual disabilities in a dish: characterizing genetic pathophysiology in cell lines and primary cell cultures” (Chair: Frank Edenhofer)

15:30 - 15:35


15:35 - 16:05

Michael Courtney, Turku, Finland: “Monitoring and manipulating plasticity-regulating neuronal signaling networks“ (Chair: Frank Edenhofer)

16:05 - 16:35

Matthias Jung, Halle, Germany: “Modelling common pathways of Syngap1 syndrome and schizophrenia in human iPS cells.” (Chair: Frank Edenhofer)

16:35 - 16:55

Discussion of preceding talks (Chair: Frank Edenhofer)

16:55 - 17:00


17:00 - 17:30

Mimoun Azzouz, Sheffield, United Kingdom: „Prospects for gene therapeutics in neurological disorders“ (Chair: Vanja Nagy)

17:30 - 18:00

Frank Edenhofer, Innsbruck, Austria: „Taking the short cut: induced neural stem cells in disease modeling and cell therapy" (Chair: Vanja Nagy)

18:00 - 18:30

Maria Isabel Carreno Munoz, Montreal Quebec; "Sensory brain responses alterations as translational biomarkers for SYNGAP1 haploinsufficiency" (Chair: Vanja Nagy)

18:30 - 19:00

Ryuichi Nakajima, Japan: "Comprehensive behavioral analysis of heterozygous Syngap1 knockout mice" (Chair: Vanja Nagy)

19:00 - 19:30

Discussion of preceding talks (Chair: Vanja Nagy)


9:00 - 9:30

Alex Bayés, Barcelona, Spain : “A systems biology approach to elucidate the postsynaptic molecular alterations resulting from Syngap1 Deficiency“ (Chair: Winfried Neuhaus)

9:30 - 10:00

Simon Hippenmeyer, Klosterneuburg, Austria: “Genetic Dissection of Neural Development in Health and Disease using Mosaic Analysis with Double Markers (MADM)” (Chair: Winfried Neuhaus)

10:00 - 10:30

Noboru H. Komiyama, Edinburgh, UK: "SynGAP1 in NMDA receptor complex: Implications for development of therapeutic strategies for ASD." (Chair: Winfried Neuhaus)

10:30 - 10:40


10:40 - 11:10

Eric Hosy, France: "Why organization of synaptic proteins at the nanoscale is essential for synaptic physiology?" (Chair: Winfried Neuhaus)


11:10 - 11:40

Discussion of preceding talks (Chair: Winfried Neuhaus)


11:40 - 13:00

Lunch Break

13:00 - 14:50

Short talks (Chair: Matthias Jung) Schedule

14:50 - 15:00


15:00 - 15:30

Marcelo Pablo Coba, USA: "SYNGAP1 signaling in mouse and human models" (Chair: Simon Hippenmeyer)

15:30 - 16:00

Jimmy L. Holder, Texas USA: "Deep phenotyping in Syngap1-related disorder" (Chair: Simon Hippenmeyer)

16:00 - 16:30

Prof. Kluger & Team: „Clinical aspects in SYNGAP1 and invitation for collaboration: project PATRE“ (Chair: Simon Hippenmeyer)

16:30 - 16:55

Discussion of preceding talks (Chair: Simon Hippenmeyer)

16:55 - 17:00


17:00 - 18:00

Keynote lecture 3: Richard Huganir: "Twenty years of SynGAP research: from Synapses to Cognition" (Chair: Gaia Novarino)

18:00 - 20:00

Discussion on Gaps in Syngap research (Chair: Richard Huganir)


Attendance to all lectures and sessions is free-of-charge, but restricted. Please send your registration to hallo@leonandfriends.org or use the form below until March 14th, 2021 with contact information and your attendance reason (e.g. pure scientific interest OR work in the field XY). You will receive an invitation link shortly before the event.

Registration Form


Leon & Friends e.V.
The non-profit organization aims to support children who suffer from Syngap1 syndrome and to drive research for treatment methods.
Visit website I Donate here


AIT Austrian Institute of Technology
The AIT is Austria’s largest Research and Technology Organization (RTO), employing about 1,300 people.
Visit website

ANA Austrian Neuroscience Association
ANA provides a platform for Austrian Neuroscience  and is amember of the Federation of European Neuroscience Societies (FENS).
Visit website

The CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences is an interdisciplinary research institute committed to advancing the understanding of human diseases through basic and biomedical research.
Visit website

The Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases
The LBI-RUD has been founded to implement a coordinated research program on the genetic and functional basis of rare diseases.
Visit website


Winfried Neuhaus
AIT – Austrian Institute of Technology, Vienna

Sigismund Huck
Center for Brain Research, Vienna

Vanja Nagy
LBI Rare and Undiagnosed Diseases & CeMM, Vienna

© 2020 Leon & Friends e.V. I Website by Philipp Apler

Short Talks

13:00 – 13.15: Winfried Neuhaus (The role of Syngap-1 for blood-brain barrier functionality)

13:15 – 13:30: Lilli Li – The effect of SynGAP1 depletion on synaptically connected networks and its potential druggability

13:30 – 13:35: Danielle Williams (Syngap – mum, president Syngap Research Fund Australia)- Life with 2 Syngap girls

13:35 – 13:50: Abhishek Shasrabudhe – Cyfip1 Regulates SynGAP1 at Hippocampal Synapses

13:50 – 14:05: Christopher Esk – A human tissue screen identifies a regulator of ER secretion as a brain-size determinant

14:05 – 14:10: Solenne Lafeytaud (Syngap – mum, president Overcome France / Canada) – Life with Syngap

14:10 – 14:25: Alfredo Gonzalez-Sulser – Absence Seizures and Sleep-Wake Cycle Disturbances in a SYNGAP1 Haploinsufficiency Model

14:25 – 14:40: Sheldon Michaelson – Pupil dynamics during salient sensory stimuli as a window into the neural signatures of altered cognition associated with Syngap1 loss-of-function

14:40 – 14:50: Sophie Mahlo (Syngap – mum, 2nd chairwomen Syngap Elternhilfe Germany) – Life with Syngap / Why Syngap is underdiagnosed

Scientific talks are 10 minutes + 5 minutes Q&A