scholarly journals Shaping the Future of Rare Diseases after a Global Health Emergency: Organisational Points to Consider

2020 ◽  
Vol 17 (22) ◽  
pp. 8694
Author(s):  
Rosaria Talarico ◽  
Diana Marinello ◽  
Sara Cannizzo ◽  
Andrea Gaglioti ◽  
Simone Ticciati ◽  
...  
Keyword(s):  
Rare Diseases ◽  
Routine Care ◽  
Lessons Learned ◽  
Negative Effects ◽  
Future Health ◽  
Appropriate Care ◽  
European Reference Networks ◽  
Health Related ◽  
Reference Networks ◽  
Multi Stakeholder

The unexpected outbreak of the COVID-19 disease had significant and enormous repercussions on the healthcare systems, such as the need to reorganise healthcare organisations in order to concentrate resources needed to the care of COVID-19 patients and to respond in general to this health emergency. Due to these challenges, the care of several chronic conditions was in many cases discontinued and patients and healthcare professionals treating these conditions had to cope with this new scenario. This was the case of the world rare diseases (RDs) that had to face this global emergency despite the vulnerability of people with RDs and the well-known need for high expertise required to treat and manage them. The numerous lessons learned so far regarding health emergencies and RDs should represent the basis for the establishment of new healthcare policies and plans aimed at ensuring the preparedness of our health systems in providing appropriate care to people living with RDs in the case of eventual new emergencies. This paper aims at providing pragmatic considerations that might be useful in designing future actions to create or optimise existing organisational models for the care of RDs in case of future emergencies or any other situation that might threaten the provision of routine care. These policies and plans should benefit from the multi-stakeholder RDs networks (such as the European Reference Networks), that should join forces at European, national, and local levels to minimise the economic, organisational, and health-related impact and the negative effects of potential emergencies on the RDs community. In order to design and develop these policies and plans, a decalogue of points to consider were developed to ensure appropriate care for people living with RDs in the case of eventual future health emergencies.

scholarly journals Orphanet – Information, Education and Expert Centres for Rare Diseases / Orphanet – informovanosť, vzdelávanie a špecializované centrá starostlivosti o pacientov so ZCH

2013 ◽  
Vol 60 (Supplementum-VIII) ◽  
pp. 10-15
Author(s):  
L. Kovács ◽  
E. Hegyi ◽  
G. Nagyová
Keyword(s):  
Rare Diseases ◽  
National Level ◽  
Quality Criteria ◽  
Basic Data ◽  
Current Status ◽  
Paper Briefly ◽  
European Reference Networks ◽  
Reference Networks ◽  
Centres Of Expertise

The paper briefly describes the role of Orphanet as an informational and educational source for rare diseases. Most attention is given to the Centres of Expertise and European Reference Networks. The authors suggest an easy procedure how to get the basic data about the readiness of the clinics to be recognised for Centres of Expertise at the national level. EUCERD recommendations on quality criteria for centres of expertise are introduced. The coordinators of the potential Centres of Expertise should be contacted and asked to fill in the questionnaire designed to check whether the centre matches the EUCERD recommendations or not. In order for the process to be transparent, the selection criteria of expert resources are listed on national website (www.orphanet.sk). The analysis of the questionnaires has to be carried out at the national level, to map the basic data about the current status. One questionnaire per department or clinic shall be filled in order to allow the evaluation. Clinics will be divided in two groups the ones which achieved the threshold and could be recognised as Centres of Expertise at the National level and the ones which need to be further monitored to reach the threshold.

scholarly journals Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

2021 ◽  
Author(s):  
Birte Zurek ◽  
◽  
Kornelia Ellwanger ◽  
Lisenka E. L. M. Vissers ◽  
Rebecca Schüle ◽  
...  
Keyword(s):  
Rare Disease ◽  
Rare Diseases ◽  
Disease Genes ◽  
Minimum Requirement ◽  
Horizon 2020 ◽  
European Reference Networks ◽  
Patient Representatives ◽  
Reference Networks ◽  
Collaborative Analysis ◽  
First Time

AbstractFor the first time in Europe hundreds of rare disease (RD) experts team up to actively share and jointly analyse existing patient’s data. Solve-RD is a Horizon 2020-supported EU flagship project bringing together >300 clinicians, scientists, and patient representatives of 51 sites from 15 countries. Solve-RD is built upon a core group of four European Reference Networks (ERNs; ERN-ITHACA, ERN-RND, ERN-Euro NMD, ERN-GENTURIS) which annually see more than 270,000 RD patients with respective pathologies. The main ambition is to solve unsolved rare diseases for which a molecular cause is not yet known. This is achieved through an innovative clinical research environment that introduces novel ways to organise expertise and data. Two major approaches are being pursued (i) massive data re-analysis of >19,000 unsolved rare disease patients and (ii) novel combined -omics approaches. The minimum requirement to be eligible for the analysis activities is an inconclusive exome that can be shared with controlled access. The first preliminary data re-analysis has already diagnosed 255 cases form 8393 exomes/genome datasets. This unprecedented degree of collaboration focused on sharing of data and expertise shall identify many new disease genes and enable diagnosis of many so far undiagnosed patients from all over Europe.

scholarly journals The context for the thematic grouping of rare diseases to facilitate the establishment of European Reference Networks

2016 ◽  
Vol 11 (1) ◽  
Author(s):  
Teresinha Evangelista ◽  
Victoria Hedley ◽  
Antonio Atalaia ◽  
Matt Johnson ◽  
Stephen Lynn ◽  
...  
Keyword(s):  
Rare Diseases ◽  
European Reference Networks ◽  
Reference Networks

scholarly journals Using the Brief Health Literacy Screen in Chronic Care in French Hospital Settings: Content Validity of Patient and Healthcare Professional Reports

2020 ◽  
Vol 18 (1) ◽  
pp. 96
Author(s):  
Adèle Perrin ◽  
Luiza Siqueira do Prado ◽  
Amélie Duché ◽  
Anne-Marie Schott ◽  
Alexandra L. Dima ◽  
...  
Keyword(s):  
Health Literacy ◽  
Content Validity ◽  
Chronic Care ◽  
Routine Care ◽  
Related Information ◽  
Concept Of Health ◽  
Patient Reported ◽  
Centered Care ◽  
Health Related ◽  
French Hospital

Person-centered care has led healthcare professionals (HCPs) to be more attentive to patients’ ability to understand and apply health-related information, especially those with chronic conditions. The concept of health literacy (HL) is essential in understanding patients’ needs in routine care, but its measurement is still controversial, and few tools are validated in French. We therefore considered the brief health literacy screen (BHLS) for assessing patient-reported HL in chronic care settings, and also developed an HCP-reported version of the BHLS with the aim of using it as a research instrument to assess HCPs’ evaluation of patients’ HL levels. We assessed the content validity of the French translation of both the patient-reported and HCP-reported BHLS in chronic care within hospital settings, through cognitive interviews with patients and HCPs. We performed qualitative analysis on interview data using the survey response Tourangeau model. Our results show that the BHLS is easy and quick to administer, but some terms need to be adapted to the French chronic care settings. Health-related information was observed to be mainly communicated orally, hence a useful direction for future literacy measures would be to also address verbal HL.

scholarly journals The Experiences of Grief and Personal Growth in University Students: A Qualitative Study

2021 ◽  
Vol 18 (4) ◽  
pp. 1899
Author(s):  
Jovita Tan ◽  
Karl Andriessen
Keyword(s):  
University Students ◽  
Emerging Adults ◽  
Personal Growth ◽  
Lessons Learned ◽  
Continuing Bonds ◽  
Structured Interviews ◽  
Supportive Services ◽  
Negative Effects ◽  
Positive Effects ◽  
Formal Services

Background: Experiencing the death of a close person, especially in emerging adults and students, can have profound effects on the bereaved individual’s life. As most research in this field has focused on negative effects of a loss, little is known about potential positive effects experienced by bereaved university students. This study investigated the experience of grief and personal growth in a sample of students from The University of Melbourne, Australia. Methods: Semi-structured interviews via Zoom/telephone with bereaved students (n = 14), who were invited to reflect on their loss and any personal growth potentially experienced. Thematic analysis of the data was based on a deductive and inductive approach. Results: The analysis identified four themes: (i) sharing of grief as a coping mechanism, (ii) balance between grief reactions and moving forward in life, (iii) lessons learned and personal growth, and (iv) adopting values from the deceased person and continuing bonds. Conclusions: Participants emphasized personal growth regarding self-perception and philosophical views on life. Following the loss, they preferred peer support, and used formal services only when they had a specific need. The findings indicate the importance of social support for bereaved students, and the complimentary role of peer and professional support. Hence, academic institutions should offer supportive services tailored to both students and professionals to help bereaved students.

scholarly journals LESSONS FROM THE RESIDENT EXPERIENCE WITH THE R3 PROGRAM

2019 ◽  
Vol 3 (Supplement_1) ◽  
pp. S776-S776
Author(s):  
Edward A Miller ◽  
Pamela Nadash ◽  
Elizabeth Simpson ◽  
Natalie Shellito ◽  
Marc Cohen
Keyword(s):  
Emotional Support ◽  
Supportive Services ◽  
Promotion Strategy ◽  
Senior Housing ◽  
Building Trust ◽  
Appropriate Care ◽  
Timely Access ◽  
Health Related ◽  
Lower Health ◽  
Privacy And Confidentiality

Abstract Understanding the resident experience is a critical step to creating a sustainable and replicable model of affordable resident-centered housing with supportive services programs. This study thus draws lessons from focus groups with participants in the R3 program for designing and implementing such initiatives in affordable senior housing. Findings indicate that the R3 program brings value to residents: they benefit from reliable information on health-related issues, as well as emotional support and assistance with accessing appropriate care. By focusing on prevention and ensuring timely access to services, findings suggest how the intervention could promote seniors living independently longer and lower health system costs. Results also suggest ways to improve the effectiveness of housing with services programs, including providing clarity regarding the purpose of the program, its components and staffing, building trust between program staff and residents, addressing concerns about privacy and confidentiality, and implementing a multipronged marketing and promotion strategy.

scholarly journals 1125. Innovative Virtual Learning in the Midst of a Pandemic - Patients, Populations, and Pandemics: Responding to COVID-19

2020 ◽  
Vol 7 (Supplement_1) ◽  
pp. S592-S593
Author(s):  
Lucille K Kohlenberg ◽  
Muriel J Solberg ◽  
Fatima N Ali-Mirza ◽  
Sheela Shenoi ◽  
Saad Omer
Keyword(s):  
Student Participation ◽  
Lessons Learned ◽  
Direct Patient Care ◽  
Future Health ◽  
Unique Challenge ◽  
Student Groups ◽  
Group Presentations ◽  
Innovative Learning ◽  
Education Medical ◽  
Virtual Setting

Abstract Background The COVID-19 pandemic has posed a unique challenge to undergraduate medical education. Medical schools postponed student participation in direct patient care in mid-March 2020, creating the need for rapidly-designed, virtual, and innovative learning experiences. Methods Utilizing Kern’s six-step approach to curriculum development, faculty and medical student liaisons rapidly designed a six-week online and interactive course for clerkship-year students and above, launched on March 30th, 2020. “Patients, Populations, and Pandemics: Responding to COVID-19” emphasized honing higher level skills of Bloom’s taxonomy, namely evaluating, synthesizing, and creating. Following weekly faculty-led lectures, student groups identified research questions, analyzed literature, presented data, critiqued peer presentations, and created infographics for the public. Results We aimed to maintain quality and interactiveness despite challenges posed by our timeframe, the evolving COVID-19 literature, and the virtual setting. We recruited frontline faculty and designed the course to facilitate discussion, thereby promoting real-time exploration of public health and clinical challenges. Encouraging student participation, we incorporated group synthesis sessions and instructed use of video, hand-raising, and chat features. In a survey administered at the end of the first week, 85.7% (18/21) of students strongly agreed or agreed that small group presentations successfully enabled synthesis of new and emerging data. Among the 29 enrolled students, 82.8% (24/29) of students completed final course evaluations, with 87.5% (21/24) agreeing that the learning activities “usually” or “always” helped meet the learning objectives identified at the beginning of the course. The course was rated as “excellent” or “very good” by 83.3% (20/24) of students. Conclusion Lessons learned include providing students with increased direction on critically reviewing peer presentations and imparting guidance on best practices for data synthesis. This course model will be disseminated throughout our institution and beyond to address challenges in remote learning and to serve as a paradigm during future health crises. Disclosures All Authors: No reported disclosures

Sign in / Sign up

Export Citation Format

Share Document