Workshop 4 - Research
"Presentation of the RD Platform fact finding study
on the trends and determinants of rare disease research"
Virginie Hivert, Orphanet, France
Workshop 3 - Registries
"Outcome of the RD Task Force and EPPOSI Workshop"
on registries, Tsveta Schyns, ENRAH
Eurordis Membership Meeting 2011 Amsterdam
13 – 14 May 2011
Tsveta Schyns
Workshop 4 - Research
"Presentation of the RD Platform fact finding study
on the trends and determinants of rare disease research"
Virginie Hivert, Orphanet, France
Workshop 3 - Registries
"Outcome of the RD Task Force and EPPOSI Workshop"
on registries, Tsveta Schyns, ENRAH
Eurordis Membership Meeting 2011 Amsterdam
13 – 14 May 2011
Tsveta Schyns
Rare diseases Conferences at Fundación ARECES-VHIR
Research in rare diseases is a very active and promising field. Nevertheless,even if it is not always obvious, requirements of the pharmaceutical regulations may be seen as a source of hurdles for a successful progress in medical science. The presentation will discuss how the regulatory framework can promote research and steer its translation into safe and efficacious products for rare diseases.
Watch the video of the seminar on Youtube: https://www.youtube.com/watch?v=dIYCC8cljt8
Open Research in Ireland: Open Access to Research Publicationsdri_ireland
As part of a webinar series on Open Research in Ireland, the National Open Research Forum (NORF) presented a webinar focused on Open Access to research publications on 4 May 2021. This presentation features an introduction to NORF delivered by Dr Daniel Bangert (Digital Repository of Ireland), a summary of Open Access in Ireland by the NORF Working Group on Open Access delivered by Susan Reilly (University College Dublin), and Niamh Brennan (Trinity College Dublin).
ISPOR Eupati meeting - Dr Derick Mitchell - November 2017ipposi
The IPPOSI CEO delivered a presentation at the international HTA conference about IPPOSI's role in EUPATI and the importance of engaging patients in HTA and health innovation R&D.
Governmental and private eHealth and telemedicine initiatives in LithuaniaCARRE project
R. Kizlaitis, Governmental and private eHealth and telemedicine initiatives in Lithuania, East Europe eHealth Innovation Summit, Warsaw, 15 January 2015
"The patient experience in the development and implementation of National Plans for Rare Diseases in France"
Christel Nourissier
EURORDIS General Secretary
& Member of the EU Comittee of Experts on Rare Diseases
EUROPLAN advisor
EUPATI 2013 Conference: Vision on Patient involvement in medicines R&D: Here...EUPATI
"Patient involvement in medicines R&D: Here we are, and where we want to be in 2020" by Nicola Bedlington, Executive Director of European Patients' Forum and Coordinator of the EUPATI project, at the EUPATI 2013 Conference on 19 April 2013.
Presentation done at CBEB'16 the 17th October by Vicente Traver introducing EIP-AHA and H2020 policies, the LINK project and different opportunities to cooperate together between Brazil and EU about telehealth and personal health
Euro-Med cooperation in the Horizon
* Regional focus – while acknowledging diversity within the region
* Focus on common challenges – what are the problems that R&I can help addressing, and how?
* Instruments – to support collaborative research, to support R&I policy dialogue, to coordinate initatives by EU, its Member States and MPCs, to integrate programmes/Art 185, to foster innovation !
* Building on ongoing projects –e.g. MEDSPRING, ERANET MED
CORD Rare Drug Conference: June 8-9, 2022
Global, International, and National Rare Disease Networks
WHO-RDI Global Rare Disease Network - Matt Bolz-Johnson, EURORDIS
Rare diseases Conferences at Fundación ARECES-VHIR
Research in rare diseases is a very active and promising field. Nevertheless,even if it is not always obvious, requirements of the pharmaceutical regulations may be seen as a source of hurdles for a successful progress in medical science. The presentation will discuss how the regulatory framework can promote research and steer its translation into safe and efficacious products for rare diseases.
Watch the video of the seminar on Youtube: https://www.youtube.com/watch?v=dIYCC8cljt8
Open Research in Ireland: Open Access to Research Publicationsdri_ireland
As part of a webinar series on Open Research in Ireland, the National Open Research Forum (NORF) presented a webinar focused on Open Access to research publications on 4 May 2021. This presentation features an introduction to NORF delivered by Dr Daniel Bangert (Digital Repository of Ireland), a summary of Open Access in Ireland by the NORF Working Group on Open Access delivered by Susan Reilly (University College Dublin), and Niamh Brennan (Trinity College Dublin).
ISPOR Eupati meeting - Dr Derick Mitchell - November 2017ipposi
The IPPOSI CEO delivered a presentation at the international HTA conference about IPPOSI's role in EUPATI and the importance of engaging patients in HTA and health innovation R&D.
Governmental and private eHealth and telemedicine initiatives in LithuaniaCARRE project
R. Kizlaitis, Governmental and private eHealth and telemedicine initiatives in Lithuania, East Europe eHealth Innovation Summit, Warsaw, 15 January 2015
"The patient experience in the development and implementation of National Plans for Rare Diseases in France"
Christel Nourissier
EURORDIS General Secretary
& Member of the EU Comittee of Experts on Rare Diseases
EUROPLAN advisor
EUPATI 2013 Conference: Vision on Patient involvement in medicines R&D: Here...EUPATI
"Patient involvement in medicines R&D: Here we are, and where we want to be in 2020" by Nicola Bedlington, Executive Director of European Patients' Forum and Coordinator of the EUPATI project, at the EUPATI 2013 Conference on 19 April 2013.
Presentation done at CBEB'16 the 17th October by Vicente Traver introducing EIP-AHA and H2020 policies, the LINK project and different opportunities to cooperate together between Brazil and EU about telehealth and personal health
Euro-Med cooperation in the Horizon
* Regional focus – while acknowledging diversity within the region
* Focus on common challenges – what are the problems that R&I can help addressing, and how?
* Instruments – to support collaborative research, to support R&I policy dialogue, to coordinate initatives by EU, its Member States and MPCs, to integrate programmes/Art 185, to foster innovation !
* Building on ongoing projects –e.g. MEDSPRING, ERANET MED
CORD Rare Drug Conference: June 8-9, 2022
Global, International, and National Rare Disease Networks
WHO-RDI Global Rare Disease Network - Matt Bolz-Johnson, EURORDIS
EUPATI Status Update at EMA PCWP Meeting, 26 Nov 2015jangeissler
Overview and Status Quo of the European Patients Academy (EUPATI) project, presented by EUPATI Director Jan Geissler at the EMA Patient and Consumer Working Party (PCWP) meeting in London on 26 Nov 2015
Strengthening research. development and innovation cooperation between jordan...SRTD _ II
CONTENTS OF THE PRESENTATION:
- A short introduction of myself and my work in the Spanish company INNOVATEC
- My experience in participating in framework programmes (FP7 & H2020), and some ideas on international cooperation activities.
- Advises and ideas to help Jordanian researchers to enhance and strengthen their cooperation with European counterparts, based on my experience and know-how of European programmes and international R&D collaboration.
Global Dementia Legacy Event: Canada & France: Dr Etienne Hirsch & Dr Yves Jo...Department of Health
Session Five: The next goal – towards Canada, France, Japan and the United States.
Canada & France: Dr Etienne Hirsch, Director, Institute for Neurosciences, Cognitive sciences, Neurology and Psychiatry at INSERM and the French alliance for life and health science Aviesan & Dr Yves Joanette CIHR, Scientific Director, Canadian Institutes of Health Research (CIHR), Institute of Aging & World Dementia Council Member
Connected health data meets the people: Diversity, Standards, and Trustchronaki
Using health data in a connected world requires new competencies, a personal digital health compass calibrated to individual personalities and needs. Patients and clinicians able to collect and manage data, data-operational informatics professionals able to analyze data, and cutting-edge researchers, innovators, and educators able to apply knowledge, will take learning health systems to the next level.
In this EFMI-HL7 event using innovative technology and surprises to engage the audience, we will discuss strategies for empowering and activating people to engage, share and use their health data. We will point to diversity, trust and open standards like HL7 FHIR to open up access and capacities to manage data safely for patients, care-givers, and the health system.
The Maturing Telemedicine Infrastructure in Denmark: Building the Human Capital, Morten Bruun-Rasmussen, CEO MEDIQ
Health Professional Education in Biomedical & Health Informatics: the EFMI AC2 approach, Professor John Mantas, University of Athens, Greece, EFMI Past President
Digital health literacy: a necessity for Activating Citizens, Professor Anne Moen, University of Oslo, Norway, VP for IMIA, European Federation for Medical Informatics
“Internet of People”: Elements of Trust and Risk, Eva Turk, DNVGL.
Workforce meets volumes of electronic information: Why and how HL7 FHIR creates value for stakeholders in learning health systems. Doug Fridsma, President and CEO, American Medical Informatics Association, US
UCD Rare Disease Module 2017 - Dr Derick Mitchell - March 28th 2017ipposi
Medical students taking the elective course in rare diseases are provided a number of patient perspectives throughout the module. This is what IPPOSI presented in 2017.
On this webinar, we’ll hear from experts on the issue and invite an open conversation with stakeholders. We need discussion, shared questions and answers and a review of case studies, which is why we are hosting this session.
Panelist:
Neil Palmer, Principal Consultant, WN Palmer & Co. and former PMPRB staff
Michael Dietrich, Executive Director, Policy, Innovative Medicines Canada
Laurene Redding, Global Head, Strategic Pricing (ex-China), BeiGene
Durhane Wong-Rieger, President & CEO, CORD
Moderator: Bill Dempster, CEO, 3Sixty Public Affairs
CORD Rare Drug Conference: June 8-9, 2022
Registries and Real-World Data
INFORM RARE: Beth Potter, Alexandra Wyatt, Pranesh Chakraborty,
Monica Lamoureux, John Adams, Kim Angel
CORD Rare Drug Conference: June 8-9, 2022
Registries and Real-World Data
INFORM RARE: Beth Potter, Alexandra Wyatt, Pranesh Chakraborty,
Monica Lamoureux, John Adams, Kim Angel Opportunities and Challenges for Data Management
CORD Rare Drug Conference June 8-9, 2022
Global, International, and National Rare Disease Networks
Rare Disease Research Network and National Children’s Hospital - Marshall
Summar, Rare Disease Institute
CORD Rare Drug Conference: June 8-9, 2022
Global, International, and National Rare Disease Networks
Canadian Network of Rare Disease Centres of Excellence - Paula Robeson, Children’s Healthcare Canada
CORD Rare Drug Conference: June 8 - 9, 2022
The Ottawa Pediatric Bone Health Research Group and The Canadian Consortium for Children’s Bone Health/Canadian Alliance for Rare Disorders of the Skeleton - Leanne Ward, CHEO
CORD Rare Drug Conference: June 8-9, 2022
What is status of Canadian access for RD drugs?
• Canada access and Rest of World - Alexandra Chambers, Novartis
• Canada access to essential rare disease drugs - Nigel Rawson
More from Canadian Organization for Rare Disorders (20)
Flu Vaccine Alert in Bangalore Karnatakaaddon Scans
As flu season approaches, health officials in Bangalore, Karnataka, are urging residents to get their flu vaccinations. The seasonal flu, while common, can lead to severe health complications, particularly for vulnerable populations such as young children, the elderly, and those with underlying health conditions.
Dr. Vidisha Kumari, a leading epidemiologist in Bangalore, emphasizes the importance of getting vaccinated. "The flu vaccine is our best defense against the influenza virus. It not only protects individuals but also helps prevent the spread of the virus in our communities," he says.
This year, the flu season is expected to coincide with a potential increase in other respiratory illnesses. The Karnataka Health Department has launched an awareness campaign highlighting the significance of flu vaccinations. They have set up multiple vaccination centers across Bangalore, making it convenient for residents to receive their shots.
To encourage widespread vaccination, the government is also collaborating with local schools, workplaces, and community centers to facilitate vaccination drives. Special attention is being given to ensuring that the vaccine is accessible to all, including marginalized communities who may have limited access to healthcare.
Residents are reminded that the flu vaccine is safe and effective. Common side effects are mild and may include soreness at the injection site, mild fever, or muscle aches. These side effects are generally short-lived and far less severe than the flu itself.
Healthcare providers are also stressing the importance of continuing COVID-19 precautions. Wearing masks, practicing good hand hygiene, and maintaining social distancing are still crucial, especially in crowded places.
Protect yourself and your loved ones by getting vaccinated. Together, we can help keep Bangalore healthy and safe this flu season. For more information on vaccination centers and schedules, residents can visit the Karnataka Health Department’s official website or follow their social media pages.
Stay informed, stay safe, and get your flu shot today!
NVBDCP.pptx Nation vector borne disease control programSapna Thakur
NVBDCP was launched in 2003-2004 . Vector-Borne Disease: Disease that results from an infection transmitted to humans and other animals by blood-feeding arthropods, such as mosquitoes, ticks, and fleas. Examples of vector-borne diseases include Dengue fever, West Nile Virus, Lyme disease, and malaria.
Knee anatomy and clinical tests 2024.pdfvimalpl1234
This includes all relevant anatomy and clinical tests compiled from standard textbooks, Campbell,netter etc..It is comprehensive and best suited for orthopaedicians and orthopaedic residents.
Pulmonary Thromboembolism - etilogy, types, medical- Surgical and nursing man...VarunMahajani
Disruption of blood supply to lung alveoli due to blockage of one or more pulmonary blood vessels is called as Pulmonary thromboembolism. In this presentation we will discuss its causes, types and its management in depth.
Tom Selleck Health: A Comprehensive Look at the Iconic Actor’s Wellness Journeygreendigital
Tom Selleck, an enduring figure in Hollywood. has captivated audiences for decades with his rugged charm, iconic moustache. and memorable roles in television and film. From his breakout role as Thomas Magnum in Magnum P.I. to his current portrayal of Frank Reagan in Blue Bloods. Selleck's career has spanned over 50 years. But beyond his professional achievements. fans have often been curious about Tom Selleck Health. especially as he has aged in the public eye.
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Introduction
Many have been interested in Tom Selleck health. not only because of his enduring presence on screen but also because of the challenges. and lifestyle choices he has faced and made over the years. This article delves into the various aspects of Tom Selleck health. exploring his fitness regimen, diet, mental health. and the challenges he has encountered as he ages. We'll look at how he maintains his well-being. the health issues he has faced, and his approach to ageing .
Early Life and Career
Childhood and Athletic Beginnings
Tom Selleck was born on January 29, 1945, in Detroit, Michigan, and grew up in Sherman Oaks, California. From an early age, he was involved in sports, particularly basketball. which played a significant role in his physical development. His athletic pursuits continued into college. where he attended the University of Southern California (USC) on a basketball scholarship. This early involvement in sports laid a strong foundation for his physical health and disciplined lifestyle.
Transition to Acting
Selleck's transition from an athlete to an actor came with its physical demands. His first significant role in "Magnum P.I." required him to perform various stunts and maintain a fit appearance. This role, which he played from 1980 to 1988. necessitated a rigorous fitness routine to meet the show's demands. setting the stage for his long-term commitment to health and wellness.
Fitness Regimen
Workout Routine
Tom Selleck health and fitness regimen has evolved. adapting to his changing roles and age. During his "Magnum, P.I." days. Selleck's workouts were intense and focused on building and maintaining muscle mass. His routine included weightlifting, cardiovascular exercises. and specific training for the stunts he performed on the show.
Selleck adjusted his fitness routine as he aged to suit his body's needs. Today, his workouts focus on maintaining flexibility, strength, and cardiovascular health. He incorporates low-impact exercises such as swimming, walking, and light weightlifting. This balanced approach helps him stay fit without putting undue strain on his joints and muscles.
Importance of Flexibility and Mobility
In recent years, Selleck has emphasized the importance of flexibility and mobility in his fitness regimen. Understanding the natural decline in muscle mass and joint flexibility with age. he includes stretching and yoga in his routine. These practices help prevent injuries, improve posture, and maintain mobilit
Title: Sense of Smell
Presenter: Dr. Faiza, Assistant Professor of Physiology
Qualifications:
MBBS (Best Graduate, AIMC Lahore)
FCPS Physiology
ICMT, CHPE, DHPE (STMU)
MPH (GC University, Faisalabad)
MBA (Virtual University of Pakistan)
Learning Objectives:
Describe the primary categories of smells and the concept of odor blindness.
Explain the structure and location of the olfactory membrane and mucosa, including the types and roles of cells involved in olfaction.
Describe the pathway and mechanisms of olfactory signal transmission from the olfactory receptors to the brain.
Illustrate the biochemical cascade triggered by odorant binding to olfactory receptors, including the role of G-proteins and second messengers in generating an action potential.
Identify different types of olfactory disorders such as anosmia, hyposmia, hyperosmia, and dysosmia, including their potential causes.
Key Topics:
Olfactory Genes:
3% of the human genome accounts for olfactory genes.
400 genes for odorant receptors.
Olfactory Membrane:
Located in the superior part of the nasal cavity.
Medially: Folds downward along the superior septum.
Laterally: Folds over the superior turbinate and upper surface of the middle turbinate.
Total surface area: 5-10 square centimeters.
Olfactory Mucosa:
Olfactory Cells: Bipolar nerve cells derived from the CNS (100 million), with 4-25 olfactory cilia per cell.
Sustentacular Cells: Produce mucus and maintain ionic and molecular environment.
Basal Cells: Replace worn-out olfactory cells with an average lifespan of 1-2 months.
Bowman’s Gland: Secretes mucus.
Stimulation of Olfactory Cells:
Odorant dissolves in mucus and attaches to receptors on olfactory cilia.
Involves a cascade effect through G-proteins and second messengers, leading to depolarization and action potential generation in the olfactory nerve.
Quality of a Good Odorant:
Small (3-20 Carbon atoms), volatile, water-soluble, and lipid-soluble.
Facilitated by odorant-binding proteins in mucus.
Membrane Potential and Action Potential:
Resting membrane potential: -55mV.
Action potential frequency in the olfactory nerve increases with odorant strength.
Adaptation Towards the Sense of Smell:
Rapid adaptation within the first second, with further slow adaptation.
Psychological adaptation greater than receptor adaptation, involving feedback inhibition from the central nervous system.
Primary Sensations of Smell:
Camphoraceous, Musky, Floral, Pepperminty, Ethereal, Pungent, Putrid.
Odor Detection Threshold:
Examples: Hydrogen sulfide (0.0005 ppm), Methyl-mercaptan (0.002 ppm).
Some toxic substances are odorless at lethal concentrations.
Characteristics of Smell:
Odor blindness for single substances due to lack of appropriate receptor protein.
Behavioral and emotional influences of smell.
Transmission of Olfactory Signals:
From olfactory cells to glomeruli in the olfactory bulb, involving lateral inhibition.
Primitive, less old, and new olfactory systems with different path
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HOT NEW PRODUCT! BIG SALES FAST SHIPPING NOW FROM CHINA!! EU KU DB BK substit...GL Anaacs
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Prix Galien International 2024 Forum ProgramLevi Shapiro
June 20, 2024, Prix Galien International and Jerusalem Ethics Forum in ROME. Detailed agenda including panels:
- ADVANCES IN CARDIOLOGY: A NEW PARADIGM IS COMING
- WOMEN’S HEALTH: FERTILITY PRESERVATION
- WHAT’S NEW IN THE TREATMENT OF INFECTIOUS,
ONCOLOGICAL AND INFLAMMATORY SKIN DISEASES?
- ARTIFICIAL INTELLIGENCE AND ETHICS
- GENE THERAPY
- BEYOND BORDERS: GLOBAL INITIATIVES FOR DEMOCRATIZING LIFE SCIENCE TECHNOLOGIES AND PROMOTING ACCESS TO HEALTHCARE
- ETHICAL CHALLENGES IN LIFE SCIENCES
- Prix Galien International Awards Ceremony
These lecture slides, by Dr Sidra Arshad, offer a quick overview of physiological basis of a normal electrocardiogram.
Learning objectives:
1. Define an electrocardiogram (ECG) and electrocardiography
2. Describe how dipoles generated by the heart produce the waveforms of the ECG
3. Describe the components of a normal electrocardiogram of a typical bipolar leads (limb II)
4. Differentiate between intervals and segments
5. Enlist some common indications for obtaining an ECG
Study Resources:
1. Chapter 11, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 9, Human Physiology - From Cells to Systems, Lauralee Sherwood, 9th edition
3. Chapter 29, Ganong’s Review of Medical Physiology, 26th edition
4. Electrocardiogram, StatPearls - https://www.ncbi.nlm.nih.gov/books/NBK549803/
5. ECG in Medical Practice by ABM Abdullah, 4th edition
6. ECG Basics, http://www.nataliescasebook.com/tag/e-c-g-basics
These simplified slides by Dr. Sidra Arshad present an overview of the non-respiratory functions of the respiratory tract.
Learning objectives:
1. Enlist the non-respiratory functions of the respiratory tract
2. Briefly explain how these functions are carried out
3. Discuss the significance of dead space
4. Differentiate between minute ventilation and alveolar ventilation
5. Describe the cough and sneeze reflexes
Study Resources:
1. Chapter 39, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 34, Ganong’s Review of Medical Physiology, 26th edition
3. Chapter 17, Human Physiology by Lauralee Sherwood, 9th edition
4. Non-respiratory functions of the lungs https://academic.oup.com/bjaed/article/13/3/98/278874
Ozempic: Preoperative Management of Patients on GLP-1 Receptor Agonists Saeid Safari
Preoperative Management of Patients on GLP-1 Receptor Agonists like Ozempic and Semiglutide
ASA GUIDELINE
NYSORA Guideline
2 Case Reports of Gastric Ultrasound
Ozempic: Preoperative Management of Patients on GLP-1 Receptor Agonists
Daria Julkowska, E-Rare Net, Transforming Rare Disease Research through Transnational Funding
1. Transforming rare diseases research through
transnational funding
Daria Julkowska
INSERM, France
A Rare International Dialogue
RDI-CORD Conference
10 – 12 of May, Toronto, Canada
2. IRDiRC Goals 2017–2027
Released 9 August 2017
VISION: Enable all people living with a rare disease to receive an accurate diagnosis, care, and available therapy within
one year of coming to medical attention
GOAL 1: All patients coming to medical attention with a suspected rare disease will be diagnosed within one year if
their disorder is known in the medical literature; all currently undiagnosable individuals will enter a globally
coordinated diagnostic and research pipeline.
GOAL 2: 1000 new therapies for rare diseases will be approved, the majority of which will focus on diseases without
approved options.
GOAL 3: Methodologies will be developed to assess the impact of diagnoses and therapies on rare disease patients.
4. IRDiRC Committees
Mission
u Identify roadblocks/priorities
u Implement Task Forces and activities to address priorities/gaps
u Establish and promulgate best practices, operating procedures, quality
standards, roadmap to address priorities
u Inform other Committees of scientific and programmatic states, needs,
opportunities, emerging issues
4
6. More information on IRDiRC
u Chair:
ÄLucia Monaco
u Vice Chair:
ÄDavid Pearce
u Scientific Secretariat:
ÄProject managers: Carla D’Angelo & Galliano Zanello
ÄCoordinator: Daria Julkowska
u Contact:
Äscientificsupport@irdirc.org
6
www.irdirc.org
8. Funded by the
European Union
GA n°825575
RARE
DISEASES
RESEARCH
STRATEGY
INFRA
STRUCTURES
PATIENTS
NEEDS
HEALTH
CARE +
FUNDING
Rare Diseases Landscape in Europe
9. Participation of Canada
CIHR and FRQS joined E-Rare ERA-Net in 2013
Both funding organisation participated in 6 joint transnational calls
(2013 – 2018)
26 projects with Canadian teams were financed for the total budget
of 6.75 M€ (4.6 M CAD)
32 Canadian teams were financed
Muscular Dystrophy Canada financed French research team in 2014
(budget 220 K€)
10. Funded by the
European Union
GA n°825575
Main facts about the EJP RD
88 beneficiaries
31 research funding bodies/ministries
12 research institutes
22 universities/hospital universities
11 hospitals
5 EU infrastructures (BBMRI, EATRIS, ECRIN, ELIXIR,
INFRAFRONTIER) + EORTC
EURORDIS & ePAGs
5 charities/foundations (FTELE, AFM, FFRD, FGB, BSF)
Jan 2019 Dec 2023
Union contribution: 55 M€ (70% reimbursement rate)
Total budget (min. submitted): 101 M€ (à expected > 110 M€)
+ 50 Linked Third Parties
27 EU MS (AT, BE, BG, CZ, DE, DK, ES, EE, FI, FR, GR, HU, HR, IE, IT, NL, LT, LV, LU,
MT, PL, PT, RO, SE, SK, SI, UK), 7 associated (AM, CH, GE, IL, NO, RS, TK) and CA
11. Funded by the
European Union
GA n°825575
EJP RD STRUCTURE
1
2 4
3
FUNDING ACCELERATING
TRANSLATION
OF RESEARCH &
THERAPY
DEVELOPMENT
COORDINATED
ACCESS TO
DATA &
SERVICES
CAPACITY
BUIDLING &
EMPOWERMENT
COORDINATION
& TRANSVERSAL ACTIVITIES
INTEGRATIVE RESEARCH STRATEGY
SUSTAINABILITY
ETHICAL & REGULATORY
COMMUNICATION
Coordinated by
13. Funded by the
European Union
GA n°825575
Pillar 1: Activities
WP6: Joint Transnational Calls for collaborative research projects
Open to research teams from countries with funders involved – min of 4 teams from 4 countries.
Canadian teams are eligible according to the CIHR & FRQS rules. Canadian Pateint Advocacy
Organisation (PAO) can receive funding
WP7: Networking to share knowledge on rare diseases
Small support schemes for networking (workshops/events/share of knowledge) – 30 K€ max – open
all year long – open to all countries involved in EJP RD including Canada
WP8: Rare disease research challenges
Public-private (small scale) partnerships – challenges set by industry and validated by EJP RD –
short term (max. 18 months) projects - open to all countries involved in EJP RD including Canada
WP9: Monitoring of funded projects
Monitoring of all projects funded through EJP RD and previous E-Rare projects
15. Funded by the
European Union
GA n°825575
ERN research
RD researchers
Computational
research
Data science
Developpers
learning from
ERN experts
ERN experts
learning from
computational
experts
The fuel
The mechanics
A powerful substrate for
translational research:
Centralized services for
collections (resource-level)
- Sample, biobanks, registries,
infrastructures and tools catalogue
- Analysis platform for omics data
- Curated rare disease-centered
information and data
Federated services for data
elements (record-level)
- FAIR ‘at source’
- Data, patients, and samples -
linked and discoverable
- Consents and data use conditions
also represented
Pillar 2 target: FAIR-based virtual platform
START END
Enhanced RD
research
PILLAR 2
16. Funded by the
European Union
GA n°825575
Pillar 2: Activities
WP10: User-driven strategic planning and transversal activities for Pillar 2 data ecosystem
Annual strategic meetings with users (ERNs) & developers to define the priorities –
coordination of outputs & needs – technical GDPR implementation – quality, sustainability
and scaling up
WP11: Common virtual platform for discoverable data and resources for RD research
Metadata & ontological models – FAIR compliance – data deposition & access to data infras
– online tools
WP12: Enabling sustainable FAIRness and Federation at the record for RD data, patients and
samples
Alignement of core interoperability standards – software for FAIR ecosystem – FAIRification
support
WP13: Enabling multidisciplinary, holistic approaches for rare diseases diagnostics and
therapeutics
System biology approaches for RD – biological pathways – variants to function –
environmental toxicology – treatment drugs - proof of principle studies
18. Funded by the
European Union
GA n°825575
Pillar 3: Activities
WP14: Training on data management & quality
Orphanet nomenclature – standards & quality of genetics/genomics data in clinical practice – strategies
to foster undiagnosed diseases – biobanks sample data management – rare diseases registries &
FAIRification at source – European Rare Diseases Registry Infrastructure
WP15: Capacity building & training of patients and researchers in rare diseases research
and processes
Expert Patients and Researchers EURORDIS Summer school – scientific innovation and translation research
aspects in RDs for patient advocates – leadership & communication skills for patient advocates and
representatives – education material and activities for paediatric patients
WP16: Online academic education course
Based on assessed needs of the RD community – in collaboration with universities – 10 to 12 modules with
accreditation – e-learning format open to all – Future Learn platform
WP17: ERN RD training & support programmes
Based on four groups (Neuro, Neoplasm & malformation, Organs, Systemic) – preferences, needs and
resources of ERNs – tailored for and performed by ERNs
WP18: Development and adaptation of training activities
Evaluation of developing needs according to progress of Pillars 2 & 4 – specific needs of EU 13 countries –
emerging needs of ERNs
19. Pillar 4: Accelerating the
translation of high potential
projects and improving outcomes
of clinical studies in small
populations
20. Funded by the
European Union
GA n°825575
Pillar 4: Activities
WP19: Facilitating partnerships and accelerating translation for
higher patient impact
Innovation management toolbox – assessment and real time mentoring of translational
projects – support in exploitation and follow-on funding – partnering support – roadmap for
European investment platform for RD
WP20: Accelerating the validation, use and development of
innovative methodologies tailored for clinical trials in RDs
Key Task Force group - Support in design and planning of RD clinical studies with ECRIN –
demonstration projects on existing statistical methodologies to improve RD clinical trials –
innovative methodologies to improve RD clinical trials in limited populations
21. Funded by the
European Union
GA n°825575
Conclusions
Strong partnership with Canadian funding organisations opened
new opportunities for rare diseases researchers:
Collaborative projects on rare diseases
Access for CA researchers and PAO to funding, tools and support provided
within the EJP RD
Share of knowledge and perspective beyond Europe
More direct involvement of Canadian research performing
organisation would be profitable to further enhance common
actions and bring international dimension to e.g. RD clinical
research networks
22. Funded by the
European Union
GA n°825575
Joint Congress
WHEN: March 2020
WHERE: Berlin, Germany
PROGRAMME: dedicated workshops, scientific sessions, policy, patients
https://www.react-congress.org
www.irdirc.org
www.ejprarediseases.org