Este sábado (29 de Septiembre de 2018) se celebrará la primera reunión de familias procedentes de diversos países de Europa afectos de GRIN2B.

Es una disfunción de los recetores de glutamato de tipo NMDA. Es por tanto un problema de la neurotransmisión glutamatérgica.

El symposium se celebrará desde las 8h30 hasta las 17h en el hospital Sant Joan de Deu, en el edificio de la Universidad:

Este es el programa que nos han facilitado:

Families will be able to meet and create relationships with other families to help form a tighter group that better supports parents and promotes research into GRIN2B.

Families will get a better understanding of the GRIN2B gene and its functions as well as a look at what is current and upcoming in the field of genetics.

Families will meet the Barcelona research team who are currently running clinical trials on l-serine supplements for GRIN2B affected children. Families also have a chance to meet Tali, a parent MD with a PhD in molecular genetics, who is exploring all FDA approved drugs to find any that impact GRIN2B. The families will explore this current GRIN2B research through presentations and Q&A sessions.

Researchers will get to meet with families and obtain a deeper understanding of the similarities and differences of a GRIN2B diagnosis.

Welcome and Registration

08.30-09.00 Welcome, Registration

A chance to get refreshments, be introduced to the presenters, general housekeeping, delivery of documents and collection of money for the lunch

The GRIN2B family & GRIN2B gene

09.00-09.15 Introduction from GRIN2B association (Z.Costello / A.Huskic Topic, Parents)
Awareness Video, introductions & Timetable

09.15-09.45 Biological aspects of GRIN2B gene and the NMDA receptor function (X.Altafaj, Principal Investigator at IDIBELL – Neuropharmacology Unit, Barcelona)
Simple explanation of Neurobiology basics, GRIN2B Genetics, how mutations occur and, what an example DNA result means, mutations classification and NMDAR (dys)function.

09.45-10-15 Clinical symptoms of GRIN2B (À. García Cazorla, Head of the Neurometabolic Unit, Sant Joan de Déu Hospital, Barcelona).
A clinical view of GRIN2B clinical aspects.

10.15-10.30 Refreshment Break.

10.30-11.00 GRIN2B survey results (Z.Costello, parent)
Looking at the results from the recent survey taken by over 50 GRIN2B patients

11.00-12.00 Interactive Workshops: Methods for the study of GRIN2B genetic variants (M. Olivella, Professor, Universitat Pompeu Fabra; D. Soto, Professor, Barcelona School of Medicine, University of Barcelona).
The attendees will discover the bioinformatic and cell-based methods currently used towards functional classification of GRIN2B genetic variations.


12.00-13.30 Lunch

GRIN2B Research

13.30-14.00 L-serine Supplement Research (X.Altafaj, Principal Investigator at IDIBELL – Neuropharmacology Unit, Barcelona; A.Huskic Topic, Parent)
The Barcelona team is currently working on L-serine supplements for Loss of Function GRIN2B patients. They are already in clinical trials with a small number of patients.

14.00-14.15 Q&A

14.15 – 14.30 Technical Forum (X.Altafaj, Principal Investigator at IDIBELL – Neuropharmacology Unit, Barcelona; À. García Cazorla, Head of the Neurometabolic Unit, Sant Joan de Déu Hospital, Barcelona)
Pre-prepared questions and answers

14.30-14.45 Refreshment Break

14.45-15.15 Gene Therapy, FDA approved drugs and Chemical Compound Research (T. Garin Shkolnik, parent & Molecular Genetic Researcher, Israel)
Tali is a parent of a child with GRIN2B, she also happens to be an MD and have a PhD in molecular genetics. Tali is researching gene therapy for GRIN2B and has teams currently researching thousands of FDA approved drugs that affect GRIN2B in the hope we may find something without having to go to clinical trial. She is also scanning millions of chemical formulas to find those that may be useful.

15.15-15.30 Q&A

15.30-16.00 Fundraising (U. Shkolnik, A. Huskic Topic, parents)
This is a discussion about how we can find ways to facilitate funding through a global non-profit organisation.

Relaxed Meet & Greet

16.00-17.00 Meet & Greet
A chance to informally talk to other families and the professionals.

Esperamos que las familias y los investigadores lo pasen tan bien como lo pasamos nosotros cuando celebramos allí nuestro último encuentro.