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 GNEM, 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 GNEM 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 GNEM, a rare genetic muscle disease affecting young adults.
Organizing Committee
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 GNEM, 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.
Healthy 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 or recovery. 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.
Information about the national COVID-19 restrictions travel restrictions can be found here .
Program
– Lisbon, 31st May 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
00:20
GNE myopathy: A clinical perspective
Hanns Lochmüller
CHEO Research Institute | Ottawa (Canada)
10:35
00:20
Prodrug approach in drug discovery: applications of phosphoramidate technology
Fabrizio Pertusati
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 and POSTER SESSION
Afternoon
SESSION 3 | Chaired by Fabrizio Pertusati and Luís Santos
14:30
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
00:30
Flash talks
Inês Farinha, Pharma 73 | Lisbon (Portugal)
Fabian Krämer, Buddy Service Iberia SL | Barcelona (Spain)
16:00
01:00
COFFE BREAK and POSTER SESSION
CLOSING SESSION | Chaired by Hanns Lochmüller, Michela Onali, Paula Videira
17:30
01:00
Roundtable
All speakers
20:00
SOCIAL DINNER and TUNA ACT (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
Submission and guidelines
Abstract Template
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