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 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.
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 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.
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 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 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.
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 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.
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 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.
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 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
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
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.
Workshop 6 - Brainstorming & Policy Development session: Training, information and education of MDs
"Feedback from the 15 National Conferences"
Christel Nourissier, EURORDIS
Workshop 7 - Brainstorming & Policy Development session: Prevention
"EUROCAT Study on Prevention of Congenital Anomalies"
Dr. Domenica Taruscio, ISS Italy
The document summarizes the Spanish Network of Health Technology Assessment (HTA) Agencies, which provides a consolidated model for collaborative work across Spain's decentralized healthcare system. The Network aims to inform decision making on health technologies through coordinated assessments across regions to promote equity and sustainability. It is comprised of HTA agencies from each autonomous region, coordinated by the Ministry of Health. The Network collaborates on an annual work plan and common methodology to prioritize assessments, avoid duplication of efforts, and share results.
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
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.
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.
Norwegian Romanian (No Ro) Parternership For Progress InMihaiela Fazacas
The document summarizes a project between Norwegian and Romanian organizations to improve quality of life for those with rare diseases in Romania. The project aims to establish a Rare Disease Task Force to evaluate cases and propose actions. It also aims to create new services like a training network for rare disease specialists and accredited online courses. A pilot reference center is planned to provide personalized care for rare disease patients. The overall goal is to improve access to diagnosis, treatment and rehabilitation for rare diseases in Romania.
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
EUPATI patient expert training course and its relevance for patient involvementEUPATI
The document discusses the EUPATI Patient Expert Training Course. It aims to educate and empower patients to be actively involved in all stages of medicine research and development from drug discovery through regulatory approval. The course includes 150-175 hours of online learning over 6 modules, along with two in-person meetings. It covers topics like clinical trials, ethics, regulations, health technology assessments, and more. The goal is to train independent and knowledgeable patient advocates who can partner with academics, industry, and regulators. Over 300 patients applied for the first class of 50-50 trainees, showing high interest. The course materials were developed by experts from different stakeholders and underwent extensive review.
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.
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
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.
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 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
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
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.
Workshop 6 - Brainstorming & Policy Development session: Training, information and education of MDs
"Feedback from the 15 National Conferences"
Christel Nourissier, EURORDIS
Workshop 7 - Brainstorming & Policy Development session: Prevention
"EUROCAT Study on Prevention of Congenital Anomalies"
Dr. Domenica Taruscio, ISS Italy
The document summarizes the Spanish Network of Health Technology Assessment (HTA) Agencies, which provides a consolidated model for collaborative work across Spain's decentralized healthcare system. The Network aims to inform decision making on health technologies through coordinated assessments across regions to promote equity and sustainability. It is comprised of HTA agencies from each autonomous region, coordinated by the Ministry of Health. The Network collaborates on an annual work plan and common methodology to prioritize assessments, avoid duplication of efforts, and share results.
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
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.
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.
Norwegian Romanian (No Ro) Parternership For Progress InMihaiela Fazacas
The document summarizes a project between Norwegian and Romanian organizations to improve quality of life for those with rare diseases in Romania. The project aims to establish a Rare Disease Task Force to evaluate cases and propose actions. It also aims to create new services like a training network for rare disease specialists and accredited online courses. A pilot reference center is planned to provide personalized care for rare disease patients. The overall goal is to improve access to diagnosis, treatment and rehabilitation for rare diseases in Romania.
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
EUPATI patient expert training course and its relevance for patient involvementEUPATI
The document discusses the EUPATI Patient Expert Training Course. It aims to educate and empower patients to be actively involved in all stages of medicine research and development from drug discovery through regulatory approval. The course includes 150-175 hours of online learning over 6 modules, along with two in-person meetings. It covers topics like clinical trials, ethics, regulations, health technology assessments, and more. The goal is to train independent and knowledgeable patient advocates who can partner with academics, industry, and regulators. Over 300 patients applied for the first class of 50-50 trainees, showing high interest. The course materials were developed by experts from different stakeholders and underwent extensive review.
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.
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
Dorica Norwegian Romanian (No Ro) Parternership For Progress InMihaiela Fazacas
The document describes a partnership between Norwegian and Romanian organizations to improve quality of life for those with rare diseases in Romania. Key points:
- The partnership will establish a Rare Disease Task Force to evaluate cases and propose medical, educational and social actions.
- New services will be created like a training network for specialists, accredited online courses, and a Pilot Reference Center providing personalized intervention.
- The center will have a day unit, training programs, and work with a rehabilitation hospital. It aims to develop patient, family and specialist skills for managing rare diseases.
- Overall the partnership seeks to improve access to diagnosis, treatment and rehabilitation for rare diseases in Romania through creating a network of support.
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
The document discusses promoting EU funding for biomedical research through the HEALTH-NCP-NET project. It provides background on the project and role of National Contact Points (NCPs) in supporting researchers. It then describes guidelines and best practices discussed at a Romania workshop for NCPs, including on intellectual property rights. The workshop aimed to help NCPs provide more equal and effective support to researchers in applying for EU funding.
This document summarizes a presentation about participating in the Active and Healthy Ageing European Innovation Partnership (EIP-AHA). It discusses what the EIP-AHA is, why participate, and the benefits and steps to get involved. Specifically, it provides an overview of the EIP-AHA's objectives to improve health, support sustainable healthcare systems, and enhance EU competitiveness. It outlines the EIP-AHA's working groups and examples of good practices being collected from various European regions to address challenges like chronic disease management and integrated care delivery. Finally, it describes the European Commission's role in supporting collaboration, evaluation, and enabling practice exchange to achieve the goals of increasing healthy life years.
The document discusses the need for improved EU-wide provision of reference microbiology laboratories for human pathogens. It summarizes a previous study called EURLOP that evaluated options for an EU reference laboratory system but did not include a cost-benefit analysis. The current study aims to provide a cost-benefit analysis of strengthening coordination of reference microbiology in the EU. It analyzes costs and benefits of existing reference laboratory networks and finds that benefits, both monetary and non-monetary, outweigh the costs. However, issues like sustainable funding and defining the scope of networks would need addressed for a future EU reference laboratory system.
How to strengthen financing mechanisms to promote care for people with MM.pdfCatarina Maia
This policy brief examines how to strengthen financing mechanisms to promote care for people with multimorbidity in Europe. It discusses how current payment mechanisms often focus on single diseases and do not adequately support integrated care for multimorbidity patients. The brief analyzes different payment approaches and their ability to incentivize coordination and integration. It concludes that blended payment systems that combine elements of various approaches and include quality measures may best promote high-quality, coordinated care for multimorbidity patients.
MAST and its application in RENEWING HEALTHAnna Kotzeva
This document discusses the Model for Assessment of Telemedicine (MAST) and its application in the RENEWING HEALTH project. MAST provides a comprehensive framework for the multidisciplinary assessment of telemedicine, including preceding considerations, assessment across multiple domains, and evaluating transferability. The RENEWING HEALTH project applies MAST to evaluate telemedicine interventions for diabetes, COPD and CVD across multiple outcomes like clinical effectiveness, user perspectives, economic impacts and organizational effects. Common tools were developed to ensure quality and comparability, including a minimum dataset, common templates, and guidance for analysis and reporting. By validating MAST across diverse settings, the project aims to establish an accepted methodology for complex telemedicine evaluations.
ERNs aim to connect healthcare providers of rare diseases across Europe to improve care for patients. They also have a mandate to contribute to research. ERNs provide opportunities to advance research through multistakeholder collaboration, comprehensive disease coverage, and added value to clinical trials. However, realizing their full research potential will require mapping expertise, identifying gaps, supporting registry development, and providing dedicated time and funding for collaborative research activities.
Research funding and research management - FP7 & H2020Elena Petelos
Developing and submitting a healthcare research or capacity building proposal to a European call for funding: lessons learned and experience gained from the University of Crete; a presentation delivered on behalf of the UoC on an invite from the University of Wroclaw (sharing experiences of successful research funding and research management over the past decade)
This document discusses the legal basis and priorities for developing EU policy on rare diseases and health surveillance. Key points include:
1) Article 152 of the EU Treaty provides the legal basis for EU action in public health, including programs on rare diseases.
2) Priorities have included exchanging information through networks, developing strategies for coordination, and supporting research collaborations.
3) The Commission Communication and Council Recommendation on rare diseases aim to establish an integrated EU approach through non-binding coordination rather than legislation.
The document discusses the Dutch model for building centers of expertise for rare diseases. It outlines the Dutch healthcare landscape and the mission of the Dutch Steering Committee to establish high-level care centers for rare diseases. Timelines are provided for establishing criteria for the expertise centers from 2008-2011, with the committee advising the health minister in 2011 on organizing the centers and financing multidisciplinary rare disease care. The general approach focuses on improving quality of life, long-term and multidisciplinary care, data collection, and involvement in European networks. The Dutch model involves expertise centers conducting research and providing care through multidisciplinary teams connected to local treatment centers and international networks. Main criteria for expertise centers include offering long-term multidisciplinary
MAST: a model for HTA-based assessment of telemedicine applicationsHTAi Bilbao 2012
This document describes MAST (Model for Assessment of Telemedicine), a multidisciplinary framework for assessing telemedicine applications. It was developed through a comprehensive process and aims to describe effectiveness and quality of care impacts of telemedicine. MAST consists of 3 stages: setting context, multidisciplinary assessment across clinical, economic, organizational and social domains, and assessing transferability. It is being empirically tested through large European projects and has supported over 25 trials. While time-consuming, MAST provides a standardized approach and ensures comparability. Feedback has been positive and several regions are adopting it, with revisions planned based on empirical results to establish MAST as a widely accepted methodology.
The document provides an overview and introduction to the WECAN Academy 2019. The key points are:
1. The WECAN Academy brings together two existing patient advocacy training programs - the SmartStart program for new advocates and the Masterclass for experienced advocates.
2. The 2019 Academy saw 105 patient advocates from 26 countries participate across the two programs, covering topics across 4 knowledge pillars - research and data, healthcare systems and policy, advocacy tools and skills, and disease and care.
3. The document outlines the schedule and sessions covered across the 3 day program for SmartStart and Masterclass participants, demonstrating the increasing complexity and specialization of topics covered each day.
Workshop Training, Information and Education of MDsJustine Eurordis
This document summarizes discussions from a workshop on training medical doctors (MDs) about rare diseases (RDs). Key points discussed include:
1) Training MDs and medical students on RDs needs to be integrated into national plans and can help shorten diagnosis times and improve treatment.
2) Training needs to include both disease knowledge and methodology skills like interdisciplinary teamwork, communication, and accepting limitations.
3) Patient organizations have unique expertise that MDs could benefit from through continued medical education programs developed together.
Scaling up innovation in healthcare - A Methodology Framework 2015Marc Lange
This presentation introduce a methodology scaling-up developed by "doers and shapers" internationally known for their expertise in eHealth and digital health
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.
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 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.
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.
PGx Analysis in VarSeq: A User’s PerspectiveGolden Helix
Since our release of the PGx capabilities in VarSeq, we’ve had a few months to gather some insights from various use cases. Some users approach PGx workflows by means of array genotyping or what seems to be a growing trend of adding the star allele calling to the existing NGS pipeline for whole genome data. Luckily, both approaches are supported with the VarSeq software platform. The genotyping method being used will also dictate what the scope of the tertiary analysis will be. For example, are your PGx reports a standalone pipeline or would your lab’s goal be to handle a dual-purpose workflow and report on PGx + Diagnostic findings.
The purpose of this webcast is to:
Discuss and demonstrate the approaches with array and NGS genotyping methods for star allele calling to prep for downstream analysis.
Following genotyping, explore alternative tertiary workflow concepts in VarSeq to handle PGx reporting.
Moreover, we will include insights users will need to consider when validating their PGx workflow for all possible star alleles and options you have for automating your PGx analysis for large number of samples. Please join us for a session dedicated to the application of star allele genotyping and subsequent PGx workflows in our VarSeq software.
Spontaneous Bacterial Peritonitis - Pathogenesis , Clinical Features & Manage...Jim Jacob Roy
In this presentation , SBP ( spontaneous bacterial peritonitis ) , which is a common complication in patients with cirrhosis and ascites is described in detail.
The reference for this presentation is Sleisenger and Fordtran's Gastrointestinal and Liver Disease Textbook ( 11th edition ).
Dr. Tan's Balance Method.pdf (From Academy of Oriental Medicine at Austin)GeorgeKieling1
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Academy of Oriental Medicine at Austin
Academy of Oriental Medicine at Austin
Academy of Oriental Medicine at Austin
About AOMA: The Academy of Oriental Medicine at Austin offers a masters-level graduate program in acupuncture and Oriental medicine, preparing its students for careers as skilled, professional practitioners. AOMA is known for its internationally recognized faculty, award-winning student clinical internship program, and herbal medicine program. Since its founding in 1993, AOMA has grown rapidly in size and reputation, drawing students from around the nation and faculty from around the world. AOMA also conducts more than 20,000 patient visits annually in its student and professional clinics. AOMA collaborates with Western healthcare institutions including the Seton Family of Hospitals, and gives back to the community through partnerships with nonprofit organizations and by providing free and reduced price treatments to people who cannot afford them. The Academy of Oriental Medicine at Austin is located at 2700 West Anderson Lane. AOMA also serves patients and retail customers at its south Austin location, 4701 West Gate Blvd. For more information see www.aoma.edu or call 512-492-303434.
Pictorial and detailed description of patellar instability with sign and symptoms and how to diagnose , what investigations you should go with and how to approach with treatment options . I have presented this slide in my 2nd year junior residency in orthopedics at LLRM medical college Meerut and got good reviews for it
After getting it read you will definitely understand the topic.
5-hydroxytryptamine or 5-HT or Serotonin is a neurotransmitter that serves a range of roles in the human body. It is sometimes referred to as the happy chemical since it promotes overall well-being and happiness.
It is mostly found in the brain, intestines, and blood platelets.
5-HT is utilised to transport messages between nerve cells, is known to be involved in smooth muscle contraction, and adds to overall well-being and pleasure, among other benefits. 5-HT regulates the body's sleep-wake cycles and internal clock by acting as a precursor to melatonin.
It is hypothesised to regulate hunger, emotions, motor, cognitive, and autonomic processes.
Giloy in Ayurveda - Classical Categorization and SynonymsPlanet Ayurveda
Giloy, also known as Guduchi or Amrita in classical Ayurvedic texts, is a revered herb renowned for its myriad health benefits. It is categorized as a Rasayana, meaning it has rejuvenating properties that enhance vitality and longevity. Giloy is celebrated for its ability to boost the immune system, detoxify the body, and promote overall wellness. Its anti-inflammatory, antipyretic, and antioxidant properties make it a staple in managing conditions like fever, diabetes, and stress. The versatility and efficacy of Giloy in supporting health naturally highlight its importance in Ayurveda. At Planet Ayurveda, we provide a comprehensive range of health services and 100% herbal supplements that harness the power of natural ingredients like Giloy. Our products are globally available and affordable, ensuring that everyone can benefit from the ancient wisdom of Ayurveda. If you or your loved ones are dealing with health issues, contact Planet Ayurveda at 01725214040 to book an online video consultation with our professional doctors. Let us help you achieve optimal health and wellness naturally.
This presentation gives information on the pharmacology of Prostaglandins, Thromboxanes and Leukotrienes i.e. Eicosanoids. Eicosanoids are signaling molecules derived from polyunsaturated fatty acids like arachidonic acid. They are involved in complex control over inflammation, immunity, and the central nervous system. Eicosanoids are synthesized through the enzymatic oxidation of fatty acids by cyclooxygenase and lipoxygenase enzymes. They have short half-lives and act locally through autocrine and paracrine signaling.
Nutritional deficiency Disorder are problems in india.
It is very important to learn about Indian child's nutritional parameters as well the Disease related to alteration in their Nutrition.
Gene therapy can be broadly defined as the transfer of genetic material to cure a disease or at least to improve the clinical status of a patient.
One of the basic concepts of gene therapy is to transform viruses into genetic shuttles, which will deliver the gene of interest into the target cells.
Safe methods have been devised to do this, using several viral and non-viral vectors.
In the future, this technique may allow doctors to treat a disorder by inserting a gene into a patient's cells instead of using drugs or surgery.
The biggest hurdle faced by medical research in gene therapy is the availability of effective gene-carrying vectors that meet all of the following criteria:
Protection of transgene or genetic cargo from degradative action of systemic and endonucleases,
Delivery of genetic material to the target site, i.e., either cell cytoplasm or nucleus,
Low potential of triggering unwanted immune responses or genotoxicity,
Economical and feasible availability for patients .
Viruses are naturally evolved vehicles that efficiently transfer their genes into host cells.
Choice of viral vector is dependent on gene transfer efficiency, capacity to carry foreign genes, toxicity, stability, immune responses towards viral antigens and potential viral recombination.
There are a wide variety of vectors used to deliver DNA or oligo nucleotides into mammalian cells, either in vitro or in vivo.
The most common vector system based on retroviruses, adenoviruses, herpes simplex viruses, adeno associated viruses.
Workshop 2- "Feedback from the 15 National Conferences on Centres of Expertise"
1. Main results of the EUROPLAN National Conferences on “ Centres of Expertise and European Reference Networks ” Simona Bellagambi –EURORDIS ADVISOR 13-14 May 2011
1 The EUROPLAN Conferences introduced two essential policy reference texts into the national debate: the Commission Communication and the Council Recommendation on Rare Diseases. Participants familiarised with their content via the preparatory work to the Conference, the Workshop presentations, the discussion in Workshops and in plenary. This helped them to realise that a wider, European framework is being shaped which is having an impact on the advancement of the national policy on RD. While the Conferences maintained an undoubtedly national perspective, the European documents and, in particular, the consciousness of being part of a European “global” experience proved to be instrumental in producing momentum around the debate and in raising interest of national stakeholders. The Conferences, therefore, played an important role to let the national RD communities understand that: 1. an underlying EU strategy exists, which is supported by those two key documents and strengthened by the EUROPLAN Recommendations; and 2. national efforts are “embedded” into a more comprehensive and long-term approach which integrates the EU and the national level. 2 The National Conferences largely “validated the EUROPLAN's tremendous work in setting the theoretical ground” for the Conferences themselves. Whether or not the climate for development of a National Plan was set prior to the National Conferences, the latter raised great interest of patients and their families, local patient organisations, medical professionals. Overall, the EUROPLAN initiative was seen by all stakeholders as an important and successful step towards the establishment of a National Strategy for Rare Diseases in their countries by 2013. The Workshop-based structure of the Conferences and the guideline questions helped to permeate the national debate with the specific indications of the EU Council Recommendation and of the EUROPLAN guidelines and to tackle the main themes of the RD policy one by one and in great detail. As a result, as for their transferability of the EUROPLAN Recommendations it can be concluded that they have been integrated into the debate and the language of stakeholders participating to the Conference, “the EUROPLAN questions” Altogether, the EUROPLAN Recommendations were endorsed and in many cases complemented by the national audiences
PATIENT-RUN AND MULTI-STAKEHOLDERS. The EUROPLAN National Conferences have been organised in close collaboration with the EURORDIS’ Council of National Alliances, by patient associations at national level: 14 EURORDIS National Alliances and 1 Foundation for RD. the organisers had a clear mandate to involve all relevant national stakeholders in the field of RDs. These included patients and their families, representatives of patient organisations and national alliances, public authorities, academics and scientists, healthcare professionals, medical societies, industry, carers and social workers, insurers, etc. This varied participation was reflected in the thematic Workshops of the Conferences and in the membership of the Steering Committees organising the Conferences, as it was made mandatory to have a collegial body taking the main decisions on the national event. This methodological choice derived from a clear goal: to make sure that all interests at stake in each country were closely involved in the debate that should eventually lead to advance the national policy on RDs. EU AND NATIONAL LEVEL. In order to face the challenge of the transferability of the EU Recommendations , it was felt necessary to maintain a supranational coordination while ensuring a close touch with the national situations . This was made possible thanks to EURORDIS national member associations, its ‘National Alliances’. In actual fact, EURORDIS, in charge of ensuring the overall coordination, worked with 6 Advisors selected among engaged patient representative active within their National Alliance: Each of them was in turn responsible of supervising the organisation of 2 or 3 National Conferences. They also liaised with the Conference organisers on a regular basis, being their key contacts throughout the entire project; liaised with EURORDIS and among themselves to exchange best practices; supervised the agenda setting; contributed to develop common documents. In brief, the Advisors played an essential intermediary role between the national and the European level. Both the National Alliances and the Advisors were selected following ‘Expressions of Interest’, in response to which EURORDIS asked the candidates to demonstrate their willingness and ability to perform the tasks requested
RESULT-ORIENTED . the Conferences were aimed at formulating concrete proposals, rather than presenting a description of the status quo. The Conference, therefore, were given a proposed format (see below) conducive to deliver suggestions to improve the existing country policy on RDs, while analysing the transferability of European guidelines in the national system. This assessment results from the collection of the evaluation carried out at the end of each Workshop and included in the Workshop reports.
With no doubt, the Conferences were also an important opportunity to map out the situation in the country, given the invaluable chance of having all stakeholders sitting around the same table. Nevertheless, as it shown in the second part of this , the Conferences were above all a source of propositions covering all relevant areas of RD policy. Mapping out CoE (Centres of Expertise) is a necessary exercise, prior to any planning on CoE. This is to recognise that in basically all countries expertise on rare diseases does exist. This expertise is, however, not always easy to find, not systematically and sufficiently funded and neither officially defined or identified as a Centre of Expertise. The creation of a Directory of Centres of Expertise is important to make expertise available in the country known, hence more accessible to patients. The attribution of competences between the more specialist centre (often far from the patient’s domicile) and the local level of care, is debated everywhere
The EUROPLAN National Conferences called uniformly for common quality standards for the designation and the accreditation of CoE . The Rare Disease Task Force recommendations on CoE (2006) were evoked, as well as the EURORDIS Declaration (2008).
In smaller countries , where the establishment of CoE for all diseases would be too complex and expensive, networks of medical experts could be established dealing with RDs, while promoting cross-border cooperation at the same time. All-disease centres are not the most popular solution . In decentralised systems or in larger countries , systems of ‘vertical referrals’ (local/regional/national) are often in place or recommended. From the regional/national centres or hospital, patients are referred to central/national CoEs where diagnostic test are performed, specialised treatment is offered, whereas the daily care is left with the centres in the proximity of the place of living. Sometimes (e.g. the French Competence Centres) intermediary levels are introduced e.g. hospitals able to ensure some of the main tasks of a CoE. Referral to a CoE in another EU country could be the ultimate step of the vertical referral system, when the necessary expertise is not found in the country of origin. Particularly in bigger countries, the creation of networks of CoEs is also supported, which reflects the needs to share scattered information and expertise throughout the countries, where more poles of expertise are susceptible of being created. A system based on networks of CoEs also helps to optimise resources by reducing redundancies or filling gaps. Finally, in response to the need for proximity of care, it is suggested that structures (such as information platforms or tools), able to functionally connect the CoE with the other structures involved in the continuity of patients’ care, be developed . This coordination structures should coordinate day-to-day care within an acceptable travel distance and expert care (diagnosis, establishing a care plan, regular check-up, certain emergencies, etc.) provided in CoE
Integration between medical and social levels must be strengthened further, with a necessary reinforcement of the social level . Social counselling and social services should be provided at the CoE. Social support in the proximity of the place of living should be equally ensured. The involvement of patient organisations in social counselling is essential and they should be systematically involved. Services acknowledged as fundamental for Centres of Expertise to provide should be recognised and reimbursed . This include healthcare services and those other services and activities which go beyond the treatment (purely healthcare services), but often are underperformed due to the lack of funds, reimbursement provisions, human resources or time. A promising example is the allocation in France, under the Second NP, of funds for certain activities performed by the CoE and recognised as “missions of general interest”. This allows creating resources for activities not strictly related to patient treatment, such as clinical research, production of guidelines for diagnosis and care; in-depth clinical and biological investigations; coordination of international networks, etc.
Healthcare pathways are defined and adopted, based on best practices and expertise at national and international . This EUROPLAN Recommendation is entirely supported, with the addition of the proposal for the simplification and acceleration of procedures for the production of protocols for diagnosis and care. “ Case managers” should dedicate their attention to individual cases and follow them all along the healthcare pathway . These would be coordinators and/or mediators who assist patients facing complex situations from a medical, social and/or administrative point of view. Their role would be helping to secure a coordinated and coherent coverage by available medical and social services, providing also assistance to get patients acquainted with their rights and get them through the administrative hurdles. Such initiatives are aimed to fulfil the urging needs of patients and families in their daily lives, which is often the most difficult part of living with a rare disease. Mechanisms should be found to recognise and reimburse the interventions of paramedical and other specialist professionals involved in the care of RD patients . Taking charge of rare pathologies implies sometimes the involvement of health professionals whose outclinic acts are not covered by the sickness insurance. Such is the case, for example, with dieticians, psychologists, physiotherapists, etc. In order to better value the work of these professional specialties, their interventions should be integrated into the reimbursement schemes, provided that they are prescribed by the CoE. Procedures for reimbursement should be accelerated and simplified.
Promoting the participation of CoEs in European Reference Networks (ERN) should be integrated in the NP and become a quality criterion of the performance of each CoE. This was a recurring message of the National Conferences, to the extent that is many cases it was specified that the participation to European-level networks is the only way forward to assure sustainable progress in the RD field. In order to attract CoEs, ERN should provide resources, such as biobanks or registries, which demand strong networking. It was also underlined, however, how time-consuming (and resource consuming) are the international networking activities. European funding should be considered to finance them The mobility of patients appears a concern principally in small countries where the existing resources cannot cover all RDs .In t his policy lays down the basis of the future organisation of healthcare services in the European Union and grant new rights to patients to take advantage of being European citizens. While the Directive applies broadly to health and all diseases in general, it recognises rare diseases for its specificities (rarity of expertise, rarity of patients, limited knowledge and therapeutic interventions) requiring specific measures to organise and disseminate this expertise at the European level – through the European Reference Network – and to support easier patient mobility across EU to access quality diagnosis and care, when needed. These new avenues are extremely important for the coming years and for the long term
Screening policies must be supported by solid legal frameworks and by reliable implementation and evaluation policies. The case of Romania, where a dedicate session of the Workshop focused on screening, showed how in actual fact the lack of resources such as appropriate screening centres, or the lack of consistent application of the policy, create important gaps in detection of RDs and delays/mistakes in diagnosis. Screening policies should be therefore accompanied by evaluation procedures to assess the quality and performance of the programmes. Current neonatal screening programmes should be extended, with the help of international exchanges on the effectiveness and regulations . This recommendation stemmed from some of the National Conferences where the issue was debated. Outcomes of the EC-funded project on neonatal screening of RD in Europe, which aims at issuing recommendations for good practices, is awaited