A5065304508- Genomics and Rare Diseases
- BRCA gene mutations in cancer
- Chronic Disease Management Strategies
- Health Systems, Economic Evaluations, Quality of Life
- Healthcare Systems and Technology
- Neurogenetic and Muscular Disorders Research
- Genomic variations and chromosomal abnormalities
- Patient-Provider Communication in Healthcare
- Prenatal Screening and Diagnostics
- Biotechnology and Related Fields
- Biomedical and Engineering Education
- Mental Health and Patient Involvement
- Genetic Syndromes and Imprinting
- Genetics, Bioinformatics, and Biomedical Research
- COVID-19 Clinical Research Studies
- COVID-19 and healthcare impacts
- Healthcare cost, quality, practices
- Autism Spectrum Disorder Research
- Renal Diseases and Glomerulopathies
European Commission
2014
European Organisation for Rare Diseases
2014
Abstract Background Rare and complex diseases can have a significant impact on family life, managing the reproductive aspects of patients childbearing age with rare is often difficult complex. A European Reference Network (ERN) Transversal Working Group (WG) Pregnancy Family Planning was created to join forces promote address issues these topics in low-prevalence diseases. Objective To outline challenges good practices related pregnancy planning for healthcare professionals (HCPs). Methods...
The European Reference Networks, ERNs, are virtual networks for healthcare providers across Europe to collaborate and share expertise on complex or rare diseases conditions. As part of the Clinical Patient Management System, CPMS, a secure digital platform, was developed allow facilitate web-based, clinical consultations between submitting clinicians relevant international experts. Network Intellectual Disability, TeleHealth Congenital Anomalies, ERN ITHACA, formed harness diagnostic in...
Background EURORDIS Care Survey program conducted with over 12000 patients in 23 countries (2002-2008) has concluded that «social security systems are usually designed around common diseases and not flexible enough to take into consideration unprecedented health needs» [1] provided a few insights rare (RD) families social challenges. Further data collection literature review is needed order assess more accurately these
Aim: The European Reference Networks (ERNs) provide clinicians and patients the opportunity to collaborate at EU level improve diagnosis, care treatment for people living with rare complex conditions. However, building a partnership culture systematically involve in ERN activities decision-making structures is challenging, partly because role of patient representatives value this collaboration are not always understood. objective project was develop an evaluation framework assess impact...
OPINION article Front. Public Health, 30 March 2022Sec. Health Policy https://doi.org/10.3389/fpubh.2022.852880
The International Journal of Integrated Care (IJIC) is an online, open-access, peer-reviewed scientific journal that publishes original articles in the field integrated care on a continuous basis.IJIC has Impact Factor 5.120 (2020 JCR, received June 2021)
The National Alliance for Rare Diseases Romania (ANBRaRo) was established at the initiative of Prader‑Willi Association (APWR) in 2007 to bring together efforts patients’ organizations national level and draw up a strategy field rare diseases. Today there are 48 enrolled ANBRaRo, is Plan integrated Health Strategy 2014-2020 that needs be updated, 27 accredited centers expertise good collaboration between specialists. A disease considered if it affects less than 5 people population 10,000...
BackgroundSocial Services are instrumental to the empowerment of people living with rare diseases and improvement their well-being health.However, these services still scarce often not adapted needs diseases.Access remains a challenge for patients families affected by diseases.
Patient involvement and empowerment through the National Plans for Rare Disorders (NPRD) (Eastern Europe) We present current situation of NPRD from Bulgaria, Romania Hungary: three different countries confronted with same problems limits, most probably not so realities. Bulgaria: was officially launched on 1 January 2009. The draft rare diseases orphan drugs programme prepared by BAPES proposed to Bulgarian Ministry Health (MoH) in November 2004. national plan includes 9 priorities...