ProDGNE Meeting 2022: A day to present GNEM and ProDGNE

Date: 
Tuesday, May 31, 2022, 9:30am

                                                  

Welcome to the ProDGNE Meeting 2022

Lisbon, 31st May 2022

The ProDGNE meeting 2022 will be a multi-stakeholder opportunity to meet in person, discuss impactful research in an ultra-rare disease like GNE Myopathy (GNEM) and expand the research network while building a long-term partnership where patients are central partners, key drivers and decision makers in R&D. 

The meeting aims to expose the most up to date applied knowledge on the field of Sialic Acid Biology and Rare Diseases, namely on GNE Myopathy, a rare genetic muscle disease and Congenital Disorder of Glycosylation (CDG). 

The program includes an introduction to the ProDGNE team and project, scientific challenges in GNE Myopathy and ways to build early and meaningful patient partnership in research for rare diseases. 

About ProDGNE 

ProDGNE is a 3-year transnational pre-clinical research project funded in the framework of the European Joint Programme on Rare Diseases (EJP RD) Joint Transnational Call 2020

The project combines patient experience, complementary, and synergist expertise in  glycobiology, biochemistry, medicinal chemistry, clinical pharmacology, -omics, biomarker discovery,  pharmaceutical technology, and clinical expertise to develop an innovative therapeutic compound to treat GNE Myopathy, a rare genetic muscle disease affecting young adults. 

ORGANISING COMMITTEE

  • Paula Videira (FCT-NOVA, Portugal)

  • Michela Onali (Gli Equilibristi HIBM, Italy)
  • Mariana Barbosa (FCT-NOVA, Portugal)
  • Pierluigi Caboni (UNICA, Italy)
  • Rudiger Horstkorte (MLU, Germany)
  • Hanns Lochmuller (CHEO, Canada)
  • Fabrizio Pertusati (Cardiff University, UK)
  • Beatriz L. Pereira (FCT-NOVA, Portugal)

LOCATION

NOVA School of Science and Technology | FCT NOVA

Sala Ágora – Biblioteca (Room Ágora – Library building) 

2829-516 Caparica, Portugal 

Directions to get to FCT:  www.fct.unl.pt/en/about-fct/how-get-fct

REGISTRATION 

It is important for the organizing committee to know how many people wish to attend the event. Please be so kind and register for the meeting using this online form.

Registration includes Coffee Breaks and Lunch. Social Dinner at the restaurant C@mpus.come is not covered. 

For further information, please contact ProDGNE at prodgne@campus.fct.unl.pt and please mention “ProDGNE meeting 2022” in the subject.

  • Registration deadline: 17th May 2022

POSTER ABSTRACT SUBMISSION

We invite all participants interested in presenting their research work in GNE Myopathy, sialic acid biology and related subjects of relevance to the meeting to submit an abstract. Abstracts will be selected by the organizing committee for a poster presentation which will take place on 31st May during the afternoon coffee break.

  • Deadline for abstract submission through this online form: 10th May 2022
  • Please refer to the abstract guidelines and template below.

 WHERE TO STAY

There are plenty of places to stay in Costa da Caparica, Almada, or Lisbon.  Participants who wish to book a room at the hotel suggested by the local organizing committee can directly contact the TRYP Lisboa Caparica Mar Hotel at res.tlc@trypportugal.com and mention on the object of the e-mail the code ProDGNE22. 

HEALTH AND SAFETY 

It is our top priority to create the safest possible environment for all participants. To attend this meeting it is required to present an EU Digital COVID certificate or proof of vaccination. We strongly recommend that all participants are fully vaccinated and we require medical masks to be worn indoors and properly regardless of vaccination status or country restrictions in place at the time of the meeting. 

PROGRAM

May 31, 2022 

Sala Ágora (Room Ágora – Library building)

TIME 

DURATION 

TOPIC 

SPEAKER

Morning

SESSION 1 | Chaired by Pierluigi Caboni and Zélia Silva

09:30 

00:15

Welcome 

ProDGNE presentation

Paula Videira 

UCIBIO, FCT-NOVA | CDG & Allies PPAIN | Lisbon (Portugal)

09:45 

00:30 

Patient Partnership in ProDGNE: working with and for patients in rare disease research projects

Michela Onali 

Gli Equilibristi HIBM  | Italy

10:15: 


10:35

00:20 


00:20

GNE myopathy: A clinical  perspective


Prodrug approach in drug discovery: applications of phosphoramidate technology 

Hanns Lochmüller 

CHEO Research Institute | Ottawa  (Canada)

School of Pharmacy and Pharmaceutical Sciences| Cardiif (UK)

10:55 

00:20 

Sialic acid biology

Rüdiger Horstkorte 

Martin Luther University Halle Wittenberg | Halle (Germany)

11:15 

00:30 

COFFEE BREAK

SESSION 2 | Chaired by Rüdiger Horstkorte and Angelina Sá-Palma 

11:45

00:20 

Metabolism of sialic acid:  

Involvement in disease mechanisms

Dirk Lefeber 

Radboud University Medical Center (Radboudumc) | Nijmegen (The  Netherlands)

12:05

00:30 

Model systems for GNE Myopathy:  An update

Stella Mitrani-Rosenbaum 

Goldyne Savad Institute of Gene  Therapy, Hadassah Hebrew University  Medical Center | Jerusalem (Israel)

12:35 

02:00 

LUNCH BREAK, POSTER SESSION AND TUNA ACT

Afternoon

SESSION 3 | Chaired by Fabrizio Pertusati and Luís Santos 

14:30 

14:50

00:20  

00:10

The role of ERN EURO-NMD in supporting research for rare neuromuscular diseases

The Portuguese Society for the Study of Neuromuscular diseases

Teresinha Evangelista ERN EURO-NMD | Paris (France)

Sociedade Portuguesa de Estudos de Doenças Neuromusculares (SPEDNM)

15:00

 00:15

 Reaching and supporting NMD patients and   relatives in the Portuguese landscape

Associação Portuguesa de Neuromusculares (APN)

15:15

 00:15

 CDG & Allies: Reducing bottlenecks to accelerate   research and therapies for CDG with a community-   centric approach

Vanessa dos Reis Ferreira

CDG & Allies-PPAIN | Portuguese Association for CDG | UCIBIO, FCT-NOVA Lisbon | Caparica (Portugal)

15:30



16:00

 00:30



01:00

Flash talks 



COFFE BREAK and POSTER SESSION

Inês Farinha, Pharma 73 | Lisbon (Portugal)

Fabian Krämer, Buddy Service Iberia SL | Barcelona (Spain)

CLOSING SESSION | Chaired by Hanns Lochmüller, Michela Onali, Paula Videira

17:30

01:00

Roundtable

All speakers

20:00

SOCIAL DINNER (Campus.come – FCT-NOVA)

GET TO KNOW OUR SPEAKERS AND CHAIRS

Morning session 

  • Paula Videira, Assistant Professor at FCT-NOVA, Principal Investigator of the  Glycoimmunology Group at  UCIBIO, and Co-founder of CDG &  Allies-PPAIN | Lisbon (Portugal) - Link

  • Michela Onali, Patient Representative at Gli  Equilibristi HIBM | Italy - Link

  • Hanns Lochmüller , Professor of Neurology at the  University of Ottawa Faculty of  Medicine and The Ottawa Hospital  Department of Medicine (Canada) - Link

  • Fabrizio Pertusati, Lecturer in Medicinal Chemistry,  School of Pharmacy and  Pharmaceutical Sciences | Cardiff  (UK) - Link

  • Rüdiger Horstkorte, Full Professor Medical Faculty and  Institute for Physiological  Chemistry at MLU | Halle (Germany) - Link

  • Pierluigi Caboni, Full Professor of Food Chemistry  and Director High-Resolution  Mass Spectrometry Lab at UNICA  | Cagliari (Italy) - Link

  • Zélia Silva, Post-Doctoral Researcher at FCT NOVA | Lisbon (Portugal) - Link

  • Dirk Lefeber, Professor Faculty of Medical  Sciences and Principal  Investigator Donders Center of  Medical Neurosciences and  Donders Institute for Brain,  Cognition | Nijmegen (The Netherlands) - Link

  • Stella Mitrani-Rosenbaum Professor Goldyne Savad Institute  of Gene Therapy, Hadassah  Hebrew University Medical  Center | Jerusalem (Israel) - Link

  • Angelina Sá-Palma, Research Assistant Professor at  FCT-NOVA and Integrated  Member of UCIBIO | Lisbon  (Portugal) - Link

Afternoon session

  • Teresinha Evangelista, Neurologist at AP-HP, Hôpital Pitié-Salpêtrière, Institut de Myologie and ERN Euro-NMD Coordinator | Paris (France) - Link

  • Vanessa dos Reis Ferreira Head of Global Patient Advocacy  and Engagement, and people  centric Researcher CDG and Allies-PPAIN | Lisbon (Portugal) - Link

  • Luís Santos, Neurologist and Neuromuscular Specialist at Hospital Egas Moniz | Lisbon (Portugal) - Link

  • Inês Farinha, Head of Laboratory R&D at 73100  - Setenta e Três Mil e Cem, Lda. |  Lisbon (Portugal) - Link

  • Fabian Krämer, CEO BUDDY Service | Barcelona (Spain) - Link


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Abstract submission and guidelines.pdf646.15 KB
Abstract Template.docx282.94 KB