ProDGNE Meeting 2024: An international Meeting on GNEM
ProDGNE International Meeting on GNE Myopathy 2024
Cagliari, 19-20 April 2024
The ProDGNE team is thrilled to meet you soon in the beautiful capital of Sardinia, Cagliari!
On the third and final year of the EJP RD grant which made ProDGNE possible, we are organising an international meeting on GNE Myopathy which will gather patients, researchers, healthcare professionals and stakeholders involved in GNE Myopathy and Rare Diseases world-wide.
We invite you all to join us in making this an opportunity for learning from patients, meeting new collaborators, creating new connections, share ideas and ongoing efforts while expanding and building an open science and collaborative framework for people living with GNE Myopathy.
Registrations and abstract submission are open!
We can’t wait to see you soon,
The ProDGNE team
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.
Location
Registration
Registrations are open and cover access to sessions, poster exhibition and meals.
Registration deadline: 15th April 2024
Please complete registration at this link to join in-person by 15 April
Please complete registration for online attendance at this link any time
Interpretation will be available EN <> IT
The call for patient fellowships is now closed. If you are a patient or carer and interested in attending please contact us at info@prodgne.eu
Poster Abstract Submission by 11 April 2024
Academics, researchers, patient organizations, patient advocates, industry, government agencies, and health care professionals are invited to submit a poster abstract for the ProDGNE Meeting 2024, taking place in Cagliari, Italy on 19-20 April 2024
We encourage you to submit abstracts to highlight the great work happening throughout the GNE Myopathy and rare disease community.
THEMES & TOPIC GUIDANCE
We welcome abstracts from all areas relevant to the main themes of the meeting. Poster abstracts can include but are not limited to the following areas of work:
- Research in GNE Myopathy
- Supporting research and science in GNE Myopathy and Rare Diseases
- Collaborative approaches to challenges in GNE Myopathy and Rare Disease Research
- Basic Science of Glycosylation
- Models, cultured cells including patient-derived IPS cells
- Therapies – ongoing trials and pre-clinical testing
- Role of patients in leading and driving research efforts in rare diseases
- Digital Health and diagnostic tools in Rare Diseases
- Technology Tools to advance research or support the Rare Disease community
- FAIR Data and rare disease registries.
KEY DATES & DEADLINES
Abstracts must be submitted to info@prodgne.eu by 11 April 2024 23:59 CEST
Notification of Acceptance will be issued by 12 April 2024
Registration will be required for all accepted abstracts. Final acceptance is conditional upon registration and payment of presenters. If we do not receive your registration by the deadline indicated your abstract will not be considered for poster display.
POSTER TEMPLATE AND GUIDELINES
Please find the abstract template and guidelines for abstract submission at this link.
AGENDA
DAY 1
19 April 2024
OPENING SESSION Collaborative and Open Science approaches to address gaps in GNE Myopathy and Rare Diseases
Chaired by Sally Spendiff (CHEO, Canada) and Michela Onali (ProDGNE)
14:30: Welcome | Michela Onali (ProDGNE), Pierluigi Caboni (UNICA, Italy), Valeria Pace (Gli Equilibristi HIBM, Italy)
- 14:45: Impact of Patient Partnership in ProDGNE and de-risking science | Michela Onali, ProDGNE Engagement Lead.
- 15:05: Consolidating the Rare Diseases Research Ecosystem | Daria Julkowska, EJP RD – European Joint Programme on Rare Diseases Coordinator, France
15:20 Q&A
- 15:30: European Reference Networks: a European model of cross-border collaboration in RDs diagnosis and care | Teresinha Evangelista, ERN Euro-NMD Coordinator, Institute of Myologie Sorbonne Université, GHU Pitié-Salpêtrière Hospital, France
- 15:45: The importance of FAIR data in rare disease research | Nawel Lalout, Radboudumc and World Duchenne organisation, The Netherlands
16:00: Q&A
- SESSION 1: Training in Research and Development: the EURORDIS OPEN ACADEMY and the collaboration among rare disease advocates
- 16:05: The EURORDIS OPEN ACADEMY, joint efforts and a coordinated action in rare diseases | Roseline Favresse, EURORDIS Research Policy and Initiatives Director and Ilaria Galetti, Vice President of FESCA, the Federation of European Scleroderma Associations and GILS.
16:25 Q&A
- SESSION 2: Introduction to GNE Myopathy
- 16:30: The patient perspective: understanding impact and challenges of patient advocates in an ultra-rare disease like GNEM | Shilpi Bhattacharya, WWGM, India
- 16:45: Introduction to GNE Myopathy and progress in research | Hanns Lochmüller, CHEO Research Institute, Canada
- 17:00: Sialic acid biology and animal models: challenges and what we still don’t know | Rüdiger Horstkorte, Martin Luther University Halle-Wittenberg, Germany
17:15 Q&A
- SESSION 2
ProDGNE as a transnational and multisciplinary approach to advance drug development in GNE Myopathy
- 17:30: Phosphate Prodrug approaches in drug discovery | Michaela Serpi and Fabrizio Pertusati (Cardiff University, School of Chemistry, Cardiff, UK)
- 17:55: ProDGNE updates
- Synthesis of prodrugs | Fabrizio Pertusati, Cardiff University, School of Chemistry, and Luca Casula University of Cagliari, Italy
- Immune perspectives on GNEM and toxicological studies of Prodrugs | Paula Videira, FCT NOVA, Lisbon, Portugal
- Post-translational modifications on GNE |Rüdiger Horstkorte, Martin Luther University Halle-Wittenberg, Germany
- Zebra fish models of GNE myopathy | Jarred Lau, CHEO, Ottawa, Canada
18:45 Q&A
19:00 NETWORKING COCKTAIL + POSTER PRESENTATIONS
DAY 2
20 April 2024
SESSION 1:
Drug development and research efforts in GNEM across the world: USA, Korea, India
Chaired by Hanns Lochmüller, CHEO Research Institute, Canada
- 9:10Journey of PADM | Yuriko Oda, Representative of the Patient Association of Distal Myopathy (PADM), Japan
- 9:30Studies of natural history of GNE myopathy and ManNAc as a potential therapeutic avenue | Francis Rossignol and May Malicdan, National Institutes of Health, USA
- 10:15Pilot clinical trial on Sialyllactose for patients with GNE Myopathy | SHIN Jin-Hong, Pusan Nat’l University Yangsan Hospital Yangsan, Republic of Korea
- 10:45Therapeutic options for GNE myopathy in India : WWGM’s efforts | Sudha Bhattacharya, World Without GNE Myopathy, and Ashoka University, Sonipat, India
11:15: COFFEE BREAK + POSTER PRESENTATIONS
SESSION 2
Research, biomarker and diagnostic efforts: The Netherlands, Germany and Italy
- 12:15Research on GNE myopathy in the Radboudumc CDG Expertise Center | Dirk Lefeber, Radboud University Medical Center (Radboudumc) | Nijmegen (The Netherlands
- 12:45Biomarker studies and proteomics – Justified and unjustified demands | Andreas Roos, University Hospital Essen, Germany
- 13:05Lipidomic studies in ProDGNE | Pierluigi Caboni, University of Cagliari, Italy
13:30: LUNCH + POSTER PRESENTATIONS
SESSION 3
What do we know and still need to know about GNE Myopathy? Canada, Japan, China, Italy, Bulgaria, Finland, Germany, Canada
Chaired by May Malicdan , National Human Genome Research Institute, NIH, USA
- 15:10Metabolomics and Machine Learning for Understanding GNE Myopathy, David Wishart, University of Alberta, Canada
- 15:40Ten years of the national registry in Japan – Achievements and insights | Wakako Yoshioka, National Center of Neurology and Psychiatry (NCNP) Tokyo, Japan
- 16:00The mutational spectrum and preliminary natural history data of GNEM cohort in China | Wenhua Zhu, Department of Neurology, Huashan Hospital, Fudan University, China
- 16:20ITA-MeD and Dista-Myo: focus on GNEM | Sara Bortolani, Policlinico Universitario Agostino Gemelli, Rome, Italy
- 16:40GNE Myopathy in Bulgaria | Ivailo Tournev and Teodora Chamova Alexandrovska University hospital, Sofia, Bulgaria
17:00: COFFEE BREAK
SESSION 4
17:15 Flash Talks
Chaired by Francis Rossignol, National Human Genome Research Institute, NIH, USA
Initiatives to support biomedical research in Sardinia | Franco Cappai, Sardegna Ricerche, Cagliari, Italy
The genetic epidemiology of GNEM | Hanns Lochmüller, CHEO, Ottawa, Canada
Unreported GNE findings from the Helsinki resequencing analysis | Marco Savarese, Folkhälsan Research Centre, Helsinki, Finland
The p.Val569Leu variant leads to early-onset GNE-myopathy in a consanguineous family | Andreas Roos, University Hospital Essen, Germany
ManNAc Prodrugs as single diastereomers via resolution of precursor stereoisomers | James Morewoood, Cardiff University
How is antigen presentation involved in GNE myopathy pathomechanism? | Beatriz Pereira, FCT NOVA, Portugal
Lessons learned from a C2C12 GNE-knock out model | Carolin Neu, Martin Luther University Halle-Wittenberg, Germany
18:15 – 19:15
Round table discussion
Strengthening collaborations world-wide: What unmet needs, challenges and opportunities for GNE Myopathy?
END OF MEETING
20:15: NETWORKING DINNER AND FAREWELL
