Workshop 4 - Research
"Presentation of the RD Platform fact finding study
on the trends and determinants of rare disease research"
Virginie Hivert, Orphanet, France
The EPIRARE project aims to build consensus around registering rare disease patients in Europe. Over 30 months, it will explore establishing a common minimum dataset for rare diseases and develop policy scenarios for an EU-wide rare disease registry. The project involves 10 partners and is coordinated by the Italian Ministry of Health's National Institute of Health. It will examine the legal basis, data quality standards, and sustainability of a future EU rare disease registry platform.
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
"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
Workshop 2 - Centres of expertise & Networks of experts
"Presentation of the concept, definitions and
terminology"
Samantha Parker, E-IMD, OrphanEurope
The EPIRARE project aims to build consensus around registering rare disease patients in Europe. Over 30 months, it will explore establishing a common minimum dataset for rare diseases and develop policy scenarios for an EU-wide rare disease registry. The project involves 10 partners and is coordinated by the Italian Ministry of Health's National Institute of Health. It will examine the legal basis, data quality standards, and sustainability of a future EU rare disease registry platform.
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
"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
Workshop 2 - Centres of expertise & Networks of experts
"Presentation of the concept, definitions and
terminology"
Samantha Parker, E-IMD, OrphanEurope
The BURQOL-RD project aims to develop a model to quantify the socio-economic burden and health-related quality of life of rare disease patients and caregivers in Europe. The 3-year project will measure these impacts for 10 rare diseases across 8 countries. Associated partners will carry out core activities while collaborating partners provide specific contributions. The project will generate standardized tools, conduct a pilot study, and refine the tools for ongoing rare disease assessment and monitoring across Europe.
The EUROPLAN project developed recommendations for national rare disease plans and strategies based on EU guidelines. 15 national conferences were held in EU countries to discuss implementing the recommendations. Key topics discussed included establishing centers of expertise, designating them based on common quality standards, ensuring multidisciplinary care and connection to research. Conferences also addressed cross-border healthcare and screening policies.
The document provides recommendations for developing national plans to address rare diseases in European countries. It discusses key priorities that should be covered in national plans, including research, centers of expertise, information and patient services, gathering expert opinions, and empowering patient organizations. It also outlines elements of methodology for developing, managing, and evaluating national plans, such as governance structures, plan content, indicators, and funding. The overall goal is to build an integrated and comprehensive strategy across Europe to address the needs of rare disease patients.
The document discusses a membership meeting held by Eurordis in Amsterdam from May 13-15, 2011. It focuses on providing specialized social services for rare disease patients and integrating rare diseases into social policies. A key topic is the future Joint Action on Rare Diseases, which will address social challenges through a working package on specialized social services. Findings from EurordisCare studies show rare disease families have a high social and economic burden, experiencing lower income, stopping work, and relocating. National conferences highlighted the need to support specialized services and develop national plans or strategies for rare diseases.
The document summarizes the key outcomes of 15 national conferences on developing national plans for rare diseases held in European countries. The conferences discussed recommendations for defining strategic plans, indicators for monitoring plans, and delivering suggestions. Key messages focused on the need for socioeconomic research, empowering patient associations in research, developing quality registries, strengthening centers of expertise, training healthcare professionals, and empowering patients in decision-making.
The document discusses the history of efforts by the German Association of Sarcoidosis Patients and their relatives (DSV) to introduce rare diseases like sarcoidosis to medical students' education. It describes DSV's attempts since the 1980s to provide continuing education for doctors and a few successful initiatives to organize student training sessions with medical experts and sarcoidosis patients. The document concludes by outlining preliminary thoughts and proposed contents for a training package on rare diseases that could accompany future student training sessions.
Workshop 6 - Brainstorming & Policy Development session: Training, information and education of MDs
"Sharing expertise: transfer of experience from patient organizations to doctors and between patient
organisations"
Rainald von Gizycki, Retina Europe,
Germany
Workshop 7 - Brainstorming & Policy Development session: Prevention
"EUROCAT Study on Prevention of Congenital Anomalies"
Dr. Domenica Taruscio, ISS Italy
Workshop 6 - Brainstorming & Policy Development session: Training, information and education of MDs
"Feedback from the 15 National Conferences"
Christel Nourissier, EURORDIS
This document summarizes a proposal for a Directive on cross-border healthcare in the European Union. The proposal aims to 1) help patients access healthcare in other EU countries by establishing reimbursement rules, 2) ensure quality and safety standards for cross-border care, and 3) foster cooperation between healthcare systems. It discusses setting reimbursement rates, responsibilities of countries providing treatment, and establishing European Reference Networks to improve access to specialized care for rare diseases. The political process of adopting the Directive is outlined, including votes in the European Parliament and negotiations in the Council.
Centers of expertise for rare diseases are important for improving patient access to diagnosis and care. They provide specialized multidisciplinary care and allow healthcare resources to be optimized. Evaluation of centers is important for quality. Centers of expertise are key to rare disease research and clinical trials by concentrating expertise. European reference networks of centers of expertise across countries provide added value and quality care for rare disease patients.
Workshop 7 - Brainstorming & Policy Development session: Prevention
"Presentation of the International Federation for Spina
Bifida and Hydrocephalus’ primary prevention study"
Pierre Mertens, International Federation for Spina Bifida and Hydrocephalus (IF)
Workshop 7 - Brainstorming & Policy Development session: Prevention
"Folic acid prevents neural tubes defect"
Mrs Eli Skattebu, Norwegian Association for Spina Bifida and Hydrocephalus (RHF)"
Kim Hannisdal, BayerAB, Sweden
EUPATI 2013 Conference: Vision on Patient involvement in medicines R&D: Here...EUPATI
This document discusses increasing patient involvement in medical research and development. It notes that the medical landscape is transforming rapidly through innovations like personalized medicine and biomarkers. While this benefits patients, it also means smaller trial populations and a need for more post-marketing data. The document advocates for increasing patient involvement in areas like clinical trial design, setting research priorities, measuring quality of life, and pharmaceutical policy. It highlights the European Patients' Academy (EUPATI) project, which aims to empower patients through education on medical research and development processes in order to facilitate greater patient engagement.
PPI Conference Galway - Dr Derick Mitchell - April 27th 2016ipposi
This document discusses the role of patients in science, industry, and research. It describes IPPOSI, a public-private partnership between patients, science, and industry in Ireland. IPPOSI members include patient advocacy groups and conduct various patient-led activities. The document also discusses EUPATI, a project to educate patients and the public about medicines research and development through training courses and an online toolbox. EUPATI aims to facilitate greater patient involvement in clinical research and regulatory processes.
EUPATI 2013 Conference: Building Knowledge & Competences for Patients’ Involv...EUPATI
EUPATI 2013 Conference: Building Knowledge & Competences for Patients’ Involvement in Medicines R&D, “Bring to life with EUPATI examples”, by Niels Westergaard, PhD, DSc Biopeople, University of Copenhagen, Denmark
The BURQOL-RD project aims to develop a model to quantify the socio-economic burden and health-related quality of life of rare disease patients and caregivers in Europe. The 3-year project will measure these impacts for 10 rare diseases across 8 countries. Associated partners will carry out core activities while collaborating partners provide specific contributions. The project will generate standardized tools, conduct a pilot study, and refine the tools for ongoing rare disease assessment and monitoring across Europe.
The EUROPLAN project developed recommendations for national rare disease plans and strategies based on EU guidelines. 15 national conferences were held in EU countries to discuss implementing the recommendations. Key topics discussed included establishing centers of expertise, designating them based on common quality standards, ensuring multidisciplinary care and connection to research. Conferences also addressed cross-border healthcare and screening policies.
The document provides recommendations for developing national plans to address rare diseases in European countries. It discusses key priorities that should be covered in national plans, including research, centers of expertise, information and patient services, gathering expert opinions, and empowering patient organizations. It also outlines elements of methodology for developing, managing, and evaluating national plans, such as governance structures, plan content, indicators, and funding. The overall goal is to build an integrated and comprehensive strategy across Europe to address the needs of rare disease patients.
The document discusses a membership meeting held by Eurordis in Amsterdam from May 13-15, 2011. It focuses on providing specialized social services for rare disease patients and integrating rare diseases into social policies. A key topic is the future Joint Action on Rare Diseases, which will address social challenges through a working package on specialized social services. Findings from EurordisCare studies show rare disease families have a high social and economic burden, experiencing lower income, stopping work, and relocating. National conferences highlighted the need to support specialized services and develop national plans or strategies for rare diseases.
The document summarizes the key outcomes of 15 national conferences on developing national plans for rare diseases held in European countries. The conferences discussed recommendations for defining strategic plans, indicators for monitoring plans, and delivering suggestions. Key messages focused on the need for socioeconomic research, empowering patient associations in research, developing quality registries, strengthening centers of expertise, training healthcare professionals, and empowering patients in decision-making.
The document discusses the history of efforts by the German Association of Sarcoidosis Patients and their relatives (DSV) to introduce rare diseases like sarcoidosis to medical students' education. It describes DSV's attempts since the 1980s to provide continuing education for doctors and a few successful initiatives to organize student training sessions with medical experts and sarcoidosis patients. The document concludes by outlining preliminary thoughts and proposed contents for a training package on rare diseases that could accompany future student training sessions.
Workshop 6 - Brainstorming & Policy Development session: Training, information and education of MDs
"Sharing expertise: transfer of experience from patient organizations to doctors and between patient
organisations"
Rainald von Gizycki, Retina Europe,
Germany
Workshop 7 - Brainstorming & Policy Development session: Prevention
"EUROCAT Study on Prevention of Congenital Anomalies"
Dr. Domenica Taruscio, ISS Italy
Workshop 6 - Brainstorming & Policy Development session: Training, information and education of MDs
"Feedback from the 15 National Conferences"
Christel Nourissier, EURORDIS
This document summarizes a proposal for a Directive on cross-border healthcare in the European Union. The proposal aims to 1) help patients access healthcare in other EU countries by establishing reimbursement rules, 2) ensure quality and safety standards for cross-border care, and 3) foster cooperation between healthcare systems. It discusses setting reimbursement rates, responsibilities of countries providing treatment, and establishing European Reference Networks to improve access to specialized care for rare diseases. The political process of adopting the Directive is outlined, including votes in the European Parliament and negotiations in the Council.
Centers of expertise for rare diseases are important for improving patient access to diagnosis and care. They provide specialized multidisciplinary care and allow healthcare resources to be optimized. Evaluation of centers is important for quality. Centers of expertise are key to rare disease research and clinical trials by concentrating expertise. European reference networks of centers of expertise across countries provide added value and quality care for rare disease patients.
Workshop 7 - Brainstorming & Policy Development session: Prevention
"Presentation of the International Federation for Spina
Bifida and Hydrocephalus’ primary prevention study"
Pierre Mertens, International Federation for Spina Bifida and Hydrocephalus (IF)
Workshop 7 - Brainstorming & Policy Development session: Prevention
"Folic acid prevents neural tubes defect"
Mrs Eli Skattebu, Norwegian Association for Spina Bifida and Hydrocephalus (RHF)"
Kim Hannisdal, BayerAB, Sweden
EUPATI 2013 Conference: Vision on Patient involvement in medicines R&D: Here...EUPATI
This document discusses increasing patient involvement in medical research and development. It notes that the medical landscape is transforming rapidly through innovations like personalized medicine and biomarkers. While this benefits patients, it also means smaller trial populations and a need for more post-marketing data. The document advocates for increasing patient involvement in areas like clinical trial design, setting research priorities, measuring quality of life, and pharmaceutical policy. It highlights the European Patients' Academy (EUPATI) project, which aims to empower patients through education on medical research and development processes in order to facilitate greater patient engagement.
PPI Conference Galway - Dr Derick Mitchell - April 27th 2016ipposi
This document discusses the role of patients in science, industry, and research. It describes IPPOSI, a public-private partnership between patients, science, and industry in Ireland. IPPOSI members include patient advocacy groups and conduct various patient-led activities. The document also discusses EUPATI, a project to educate patients and the public about medicines research and development through training courses and an online toolbox. EUPATI aims to facilitate greater patient involvement in clinical research and regulatory processes.
EUPATI 2013 Conference: Building Knowledge & Competences for Patients’ Involv...EUPATI
EUPATI 2013 Conference: Building Knowledge & Competences for Patients’ Involvement in Medicines R&D, “Bring to life with EUPATI examples”, by Niels Westergaard, PhD, DSc Biopeople, University of Copenhagen, Denmark
UNIAMO FIMR is an Italian association committed to improving the quality of life of people with rare diseases. It represents over 95 member organizations and 600 rare diseases. The "Knowing to Assist" project provided training on rare diseases to Italian doctors to improve diagnosis and care coordination for patients. A pilot course trained 45 general practitioners and pediatricians who then trained other doctors in their regions.
This document summarizes the objectives, methodology, key facts, results, and messages of the EUROPLAN WP8 project, which involved organizing 15 national conferences on rare diseases across Europe. The conferences aimed to promote national plans for rare diseases based on EU guidelines. Over 2,200 stakeholders participated, including patients, healthcare professionals, researchers, and policymakers. The conferences helped raise awareness of rare diseases and validated the EU recommendations at the national level. Discussion focused on improving care, research, coding, and patient empowerment based on each country's system. The project was seen as highly effective in advancing rare disease policy across Europe.
The document discusses European Union actions related to newborn screening for rare diseases. It provides background on EU health policy and legislation regarding rare diseases. It then summarizes an evaluation launched in 2009 on newborn screening practices for rare diseases across EU member states. The evaluation includes reports on current practices, an expert opinion on developing EU policies, and establishing an expert network on newborn screening.
1) The document outlines the marketing research process, including establishing the need for research, defining the problem, establishing research objectives and hypotheses, determining research design and data sources, collecting and analyzing data, and presenting findings.
2) It then provides an example of a marketing research study conducted on the aftershave lotion market in India, including research objectives, design, data collection methods, findings, and conclusions.
3) Key findings included Old Spice being the most popular brand with 28% top of mind awareness, factors influencing brand choice and consistency, and need for Indian brands to improve quality and image.
1. There are still major discrepancies between European countries in rare disease services, mainly due to differences in healthcare systems and economic situations.
2. Key areas that need cross-border coordination include establishing networks of centers of expertise, facilitating cross-border genetic testing, developing patient registries through public-private partnerships, and producing clinical guidelines and information in multiple languages.
3. Ongoing efforts are needed through organizations like EUCERD to monitor policy developments, foster dialogue between stakeholders, and encourage cooperation across countries in order to improve rare disease services in Europe.
There are still major discrepancies between European countries in rare disease services due to differences in healthcare systems and economic situations. Key areas that need cross-border coordination include establishing networks that combine research and clinical expertise on a long-term basis, cross-border testing, public-private partnerships for registries, jointly producing clinical guidelines and information, and monitoring policy developments. Successful initiatives include centers of expertise, European reference networks, registries, information services from Orphanet, and national plans, but more work is needed for universal availability and affordability of rare disease services across Europe.
This document summarizes the key points in developing global registries for rare diseases. It discusses the definition of rare diseases and registries, and compares registries to randomized controlled trials. Registries can collect real-world data on large populations over long periods of time. The document outlines challenges in rare disease research and treatment that registries can help address. It provides examples of national and European registry initiatives and discusses harmonizing data collection across borders. The need for public health and research-focused registries is described. Finally, a successful European registry for intoxication-type metabolic diseases is presented as a case study.
ECRIN provides support for multinational clinical trials across Europe. It offers diverse activities including trial preparation, protocol review, quality assurance, and capacity building projects. ECRIN develops tools to help with regulatory and ethical requirements. It also promotes quality through a data centre certification program. Patients are involved in ECRIN's scientific evaluation, international collaboration efforts, and some are active participants in supported clinical trials. Communication and public awareness activities help stimulate discussion about challenges in multinational clinical research.
Ségolème Aymé - Infraestructuras de I + D para impulsar investigación en Enfe...Fundación Ramón Areces
El 29 de octubre de 2014, la Fundación Ramón Areces celebró una nueva conferencia del ciclo de Enfermedades Raras organizado con el Vall d'Hebron Institute of Research de Barcelona. En esta ocasión, Ségolène Aymé, directora emérita de investigación del INSERM, fundadora de Orphanet y presidenta del Grupo Consultivo Temático sobre Enfermedades Raras en la OMS, habló sobre 'Las infraestructuras de I+D necesarias para impulsar la investigación en Enfermedades Raras'. Antes de su intervención, explicó en esta entrevista cómo mejorar las políticas de investigación en patologías poco frecuentes.
The document summarizes the European Research Infrastructure for Biobanking and Biomolecular Resources (BBMRI) preparatory phase project. It discusses how biobanks across Europe have historically been small and fragmented. The BBMRI aims to integrate these resources to enable large-scale biomedical research. Over 50 institutions from 28 countries are involved in developing common standards, data sharing agreements, and a sustainable funding model to maximize the research potential of Europe's biological samples and data.
The document summarizes the European Research Infrastructure for Biobanking and Biomolecular Resources (BBMRI) preparatory phase project. It discusses how biobanks across Europe have historically been small and heterogeneous, hindering modern genetic research. The BBMRI aims to integrate existing biobanks and resources to create a large pan-European infrastructure following common standards. The preparatory phase involved over 50 institutions from 28 countries to assess resources and technologies and develop plans for a sustainable infrastructure to support research.
The document summarizes the European Research Infrastructure for Biobanking and Biomolecular Resources (BBMRI) preparatory phase project. It discusses how biobanks across Europe have historically been small and fragmented. The BBMRI aims to integrate these resources to enable large-scale biomedical research by establishing common standards and open access. Over 50 institutions from 28 countries are involved in the preparatory phase to develop a prototype pan-European research infrastructure network for biobanking and biomolecular resources.
This document summarizes the keynote presentation on determinants for research on rare diseases given at the 5th European Conference on Rare Diseases. The presentation outlined several factors that are important for rare disease research, including the human, financial, training, healthcare, social, and political factors. It emphasized the need for a multidisciplinary and integrative approach involving national centers of expertise, clinical and basic research, registries, biobanks, and databases to advance understanding and treatment of rare diseases. Supranational collaboration through European networks of centers of expertise and platforms/infrastructures was also highlighted as important for fostering rare disease research.
This document discusses determinants and considerations for research on rare diseases from multiple perspectives. It notes both social and medical reasons for studying rare diseases, as they can provide insights into normal biological processes. An integrated and multidisciplinary approach is advocated, involving collaboration between basic and clinical researchers, as well as engagement with patient organizations, healthcare systems, and political actors to help foster research plans and infrastructure at both national and European levels.
I will discuss the formation and subsequent growth of IRDiRC into an organization with nearly 40 public and private funder members who have collectively pledged over 1 billion euros for rare disease research. I will also present the goals of IRDiRC, the plan that has been developed to achieve them, and the progress that has been made thus far. Finally, I will explore how additional organizations can take part in this international collaborative effort
NADIR: the European “Network for Animal Diseases Infectiology Research” faci...Global Risk Forum GRFDavos
The document describes the NADIR project, a European network of animal disease research facilities. The objectives of NADIR are to 1) promote collaboration between animal research centers, 2) facilitate research to improve existing facilities, and 3) provide transnational access to external researchers. NADIR received 7.5 million euros in funding to coordinate its 17 partner institutions over 5 years. Activities included networking exchanges, joint research projects, and providing access to facilities for 45 external research projects covering various animal species and disease topics. The project aims to optimize European research on infectious livestock diseases and zoonoses.
The SHARE project aimed to improve care and research collaborations for pediatric rheumatology in Europe from 2012-2015. Key results included:
1. Surveys identifying needs in European countries and best practices for diagnosis, treatment, and obtaining consent.
2. Development of consensus treatment guidelines for conditions like JDM and childhood SLE through literature reviews and expert consensus.
3. An updated pediatric rheumatology website and patient information translated into multiple languages.
4. Papers identifying barriers to international data and sample sharing between countries due to differences in ethical approval processes.
The project provided guidance to improve uniformity of care for pediatric rheumatic diseases across Europe and opportunities to facilitate research collaboration and influence European policies.
The document outlines the European Union's actions and priorities in the field of rare diseases. Key points include:
- Establishing a definition of rare diseases and improving disease classification.
- Supporting national plans and strategies for rare diseases in EU member states.
- Developing networks of centers of expertise and establishing European reference networks.
- Improving access to information, diagnosis, treatment and care for rare disease patients across Europe.
- Accelerating research and ensuring access to orphan drugs for rare diseases.
The document summarizes the development of national initiatives and European policies for rare diseases over the past few decades. It outlines key events and documents that have recognized rare diseases as a public health priority in Europe requiring transnational cooperation. These include the establishment of national plans and centers of expertise in many European countries from the 1980s onward, as well as European regulations, recommendations, and programs to support research, care coordination, and patient organizations. However, it notes ongoing challenges around decentralization, resources, and sustainability that require continued supportive policies.
The document summarizes the development of national initiatives and European policies for rare diseases over the past few decades. It outlines key events and documents that have recognized rare diseases as a public health priority in Europe. These include the establishment of national plans and centers of expertise in many European countries between the 1980s-2000s, as well as European regulations, programs, and networks to support research, care, and access to orphan drugs. It discusses ongoing challenges and priorities for further developing strategies and cross-national collaboration to improve quality of life for those affected by rare diseases.
The document discusses the International Rare Disease Research Consortium (IRDiRC), which aims to deliver 200 new therapies and means to diagnose most rare diseases by 2020. It outlines IRDiRC's goals of international cooperation and data sharing between public and private funders. Over $1B has been committed worldwide by over 30 member organizations. Progress includes identifying genes for over 3,400 rare diseases and tests for over 3,300. 137 new therapies have been developed so far. Challenges include increasing gene discovery rates and establishing unified databases. Initiatives to address these include PhenoTips and Matchmaker Exchange for matching unsolved cases.
Implementing A Network Of Virology And Entomology Laboratories For A OH Appro...Global Risk Forum GRFDavos
This document summarizes the MediLabSecure project, which aims to create a network of virology and entomology laboratories in the Mediterranean and Black Sea regions to improve surveillance of vector-borne and respiratory viruses using a One Health approach. The project will enhance preparedness for health emergencies by strengthening laboratory capacity for diseases like West Nile virus, Crimean-Congo hemorrhagic fever, Rift Valley fever, coronaviruses, and their vectors. It will provide training, promote best practices, and facilitate collaboration between 55 laboratories across 19 countries from 2014-2017 with funding from the European Union.
Introduction to DRIVE - Javier Diez DomingoDRIVE research
The DRIVE project aims to establish a sustainable study network for brand-specific influenza vaccine effectiveness studies in Europe. It is a public-private partnership funded by the Innovative Medicines Initiative 2 Joint Undertaking under the European Union’s Horizon 2020 program. The objectives of DRIVE are to ensure scientific independence and transparency in influenza vaccine effectiveness studies, conduct timely studies for all vaccines and risk groups, and establish a governance model for public-private partnerships.
2013-10-23 DTL Next Generation Life Sciences Event, UtrechtAlain van Gool
This document summarizes a case study on identifying microRNA targets for miRNA-based cancer therapeutics. Researchers from Radboud University Medical Center, TNO, and InteRNA collaborated using various omics technologies. They screened 1120 miRNAs to identify those that inhibit epithelial-to-mesenchymal transition and cancer cell invasion/metastasis. Proteomics and transcriptomics were used to validate miRNA targets, and CyTargetLink integrated the multi-omics data. The collaboration aimed to improve understanding of miRNA effects on cancer metastasis through integrated systems biology approaches.
Similar to Workshop 4 - "Presentation of the RD Platform fact finding study on the trends and determinants of rare disease research" (20)
This document provides guidance on starting and maintaining an effective Twitter account for a rare disease. It recommends choosing a memorable username and hashtag, filling out your profile, following related accounts and hashtags, engaging in conversations rather than just sharing links, and using tools like HootSuite to schedule posts and monitor discussions. The key is to start listening, learn from others in your rare disease community, and sustain activity over time through strategic planning and involvement of a team.
During the EURORDIS Membership meeting 2016 in Edinburgh, Scotland the RareConnect team presented progress on the platform along with highlighting how rare disease patient groups can take part in the project.
RareConnect has been collecting the dates of different global and national awareness days for different rare diseases in this blog post: http://blog.rareconnect.org/tip-of-the-week/rare-disease-awareness-days/
Many patient groups ask us how to start an awareness day for their individual disease. This presentations discusses best practices in starting an awareness day for your community. Highlights of what works to bring together your community for a disease awareness day.
Watch the entire webinar that this presentation was part of here: http://blog.rareconnect.org/best-practices/rareconnect-webinar-how-to-start-an-awareness-day-for-your-rare-disease/
The document summarizes the results of a 30 question poll of 66 people about their experiences living with TRAPS syndrome. TRAPS, or TNF Receptor-Associated Periodic Syndrome, is a rare autoinflammatory disease caused by a mutation in the TNFRSF1A gene. The poll asked about demographics, symptoms, treatments, impact on work/school, and other health conditions. Key findings included that the majority of respondents were female, from the US or Europe, and were diagnosed after visiting multiple doctors. Common symptoms included fever, rashes and joint/muscle pain. TRAPS episodes typically lasted 1-3 weeks and greatly impacted respondents' ability to work or attend school.
This presentation was given on July 28th during the Pitt Hopkins UK support group meeting in Manchester, UK.
Join the Pitt Hopkins syndrome community here:
https://www.rareconnect.org/en/community/pitt-hopkins-syndrome/understand
This document discusses how patients, especially those with rare diseases, are using the internet to become more informed and empowered in their healthcare. It finds that 70% of patients with disabilities use the internet, and families of patients with rare diseases most commonly search online for information about disease characteristics, diagnosis, and treatment options. Participating in online support communities and finding medical information online can help patients better understand their disease and discuss treatment options with their doctor. The document advocates for increasing online resources and social networks to better connect patients.
After being launched for 1 year, the RareConnect team updates the EuMGa, the European Myasthenia Gravis Federation on progress made in the MG community.
This document discusses using surveys and polls to gather quantitative data from patients with rare diseases. It describes how online communities can be used for research by enabling patients to share their experiences. It then provides examples of polls conducted with patient groups for Behcet's disease and atypical HUS to understand patients' experiences and how to better serve their needs. Key lessons from conducting these polls are outlined.
RareConnect is a patient-led social network for rare disease patients that connects over 60,000 monthly visitors from 170 countries across 53 disease-specific online communities in 5 languages. It provides support for rare disease patients and caregivers through moderated online communities where patients can share their experiences and find information. RareConnect works with over 400 patient organizations from 40 countries to build these communities and break down barriers between rare disease patients.
Highlights from Rare Disease Day 2011 which took place on Feb 28. An international awareness day coordinated at the international level by EURORDIS (Rare Diseases Europe)
The document summarizes the results of a 2010 survey on patient organizations and their role in and priorities for research. The survey found that:
1) Patient organizations play an important role in research through both financial and non-financial support, though their budgets and abilities vary significantly.
2) While financial support for research comes from 37% of organizations, most provide non-financial assistance like helping connect researchers and patients.
3) Organizations see more advances in basic research and diagnosis but less in areas like human/social sciences and assistive technologies.
4) When prioritizing public research funds, organizations want emphasis on therapeutics, diagnosis and epidemiology/natural history of diseases.
The document summarizes the results of a survey conducted with 309 patient organizations from 29 European countries about their role in research and priorities for the future. It finds that while only 37% of organizations fund research directly, most support research in other ways such as linking patients and researchers, providing trial information, and helping design studies. Organizations see their biggest contributions as creating collaborations between stakeholders and highlighting patient needs. However, they also identified obstacles like limited budgets and a need for more major advances in basic, diagnostic and other research areas.
The document summarizes the results of a survey conducted with 309 patient organizations from 29 European countries about their role in research and priorities for the future. It finds that while 37% of organizations fund research, most provide non-financial support through activities like facilitating collaboration between researchers, patients, and clinicians. The organizations support a wide range of research areas and have played a role in building research communities, though their budgets are limited. Understanding patient organizations' expertise and how they contribute knowledge to health policymaking was a goal of the survey.
This document discusses a membership meeting of EURORDIS about patient experiences in developing and implementing national plans. It summarizes the mission and objectives of Raríssimas, an organization founded in 2002 to help those affected by rare diseases. Key goals included creating a help line, multidisciplinary treatment centers, and Casa dos Marcos, a respite center. It describes Raríssimas' role in advocating for and helping develop Portugal's National Plan for Rare Diseases to take an integrated approach and build partnerships to address rare diseases.
Workshop 3 - "Outcome of the RD Task Force and EPPOSI Workshop on registries"
Workshop 4 - "Presentation of the RD Platform fact finding study on the trends and determinants of rare disease research"
1. Presentation of the RD Platform fact finding study on the determinants of rare disease research trends Eurordis Membership Meeting Amsterdam, 14 May 2011 Virginie Hivert Ségolène Aymé Orphanet
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4. Research Death valley Development Critical mass of articles Pharmaceutical Innovation / Performance of country Experience of company on R&D Availability of registries Research into aetiology / pathophysiology Collaboration clinicians / researchers Academic funding Diagnostic test Registries Ideas Hypothesis Plausible assumption Evidence for marketing authorisation
5. Research in the field of RD: where do we stand ? 3880 research projects for 2100 rare diseases in 27 countries 2369 genes associated to 2306 rare diseases (2147 genes associated to 2134 rare diseases with exclusion of rare tumors and syndromes with predispositon to cancer) Stage of research Number of Projects Basic research 2750 Pre-clinical research 331 Clinical research 487 Diagnostic & Biomarkers 312
6. Number of research projects by disease classed by prevalence CF Diseases which are rare forms of non-rare diseases, and which beneficiate of research on general aspects of the group of diseases Basic research goes on independantly from prevalence
7. Major advances in gene identification translating into diagnostic tests Number of genes tested by country Top 25 of diseases tested in the greatest number of European countries
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9. 514 Registries as strategic tools Medical areas concerned by patient registries Number of patient registries by country Patient registries coverage
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14. Thank you for your attention May our dreams become true with the development of IRDiRC (International Rare Disease Consortium) – Montreal, October 2011
Editor's Notes
I’m pleased to present you….
It began in… and has just ended in … It has involved… Among others its aims was to improve the Orphanet website & the data collection on research information in the field of RD. The RD Platform project has also given us the opportunity to organize two workshops of experts. The main goal was to establish the state of the art in research in the field of rare diseases.
If we look at the global scheme of R&D process, the main issue is to convert ideas in actions. To go from hypothesis to proof of concept and first clinical evidence
Basic research goes on independantly from prevalence