EURORDIS-Rare Diseases Europe’s Post

#LetsDoItTogether!  #MultidisciplinaryTeam  #HNOErkrankungen #CRSwNP  #LifeQuality  #Pflegestandard Chronic rhinosinusitis with nasal polyps: Key considerations in the multidisciplinary team approach Oliver Pfaar, Anju T. Peters, Camille Taillé, Thijs Teeling, Jared Silver, Robert Chan, Peter W. Hellings 👏 This article provides an overview of the patient perspective of the Multidisciplinary Team (MDT) approach, existing approaches and barriers to adoption, lessons learnt from allied and rare diseases, how to address under-recognised aspects of CRSwNP, and other key considerations for developing an MDT. Read more here: https://lnkd.in/ejd4aVWc

#Raredisease remains a global health concern, especially for under-served communities in low- and middle-income countries. The Undiagnosed Diseases Network International (UDNI) was established in 2015 to improve rare disease diagnosis and translation of research into clinical practice. In 2021, the UDNI launched the Diagnostic Working Group (#UDNI DWG) to accelerate diagnoses, support Undiagnosed Diseases Programs in resource-limited areas, and advance global medical knowledge through research and collaboration. This collaborative effort aims to enhance diagnostic capabilities and outcomes for individuals with rare diseases worldwide. Full Breakdown: https://lnkd.in/gvRYV5jy

Last week, Initiate conducted a poll to identify the key challenges in achieving market access for rare diseases. The results are now available! These challenges resonate with our team of experts, who work hard across our teams to address these issues and strengthen our clients' evidence base to ensure successful reimbursement. If you would like to find our more about how we can support you in your reimbursement journey do get in touch. #poll #results #raredisease #reimbursement #marketaccess #healtheconomics

Frank Watanabe emphasizes the unique challenges faced by those with dermatologic diseases and highlights how dermatologists and their patients deserve the dedicated support of specialized companies. Listen to the whole episode here: https://lnkd.in/g4aJagez

I am delighted to share my latest research publication in collaboration with the BOLD Global Network, a leading network dedicated to advancing research in obstructive airway diseases such as COPD. Titled- Geographical variation in lung function: Results from the multicentric cross-sectional BOLD study. SUMMARY AT A GLANCE  The relation of FVC to age and height varies geographically, but there is no geographical variation in the FEV1/FVC ratio. These findings may be useful for identifying specific restrictive lung disease, and they do not alter the current advice to use a single global standard when assessing severity of disease.  #Research #COPD #BOLDNetwork #GlobalHealth #RespiratoryMedicine #Publication #FVC #FEV1 #FEV1/FVC #Imperialcollagelondon #KEMHRC #VaduHDSS

Perspectives on the daily challenges that individuals living with rare diseases face continue to play a vital role in shaping innovative solutions that can help address their significant unmet medical needs. Today we announced the publication of results from a comprehensive survey of people living with #Fabry to share important insights related to disease management and monitoring. For details, see our press release: https://lnkd.in/gRT3jpxh #Orphanet #RareDiseases #ChiesiGlobalRareDiseases

🔬The European Joint Programme for Rare Diseases (#EJPRD) has made significant strides in advancing rare disease research, patient engagement, and international collaboration over the past decade. Launched in 2019, EJP RD brought together over 130 institutions from 35 countries to establish a foundation for the rare disease research ecosystem through multinational funding, support services, and a virtual platform for FAIR data sources. ERDERA proudly continues this legacy, aiming to improve the lives of 30 million people living with rare diseases in Europe. Stay tunned as we continue developing a robust data infrastructure, funding new research, and translating findings into real solutions for patients. 🔗 Find out more about ERDERA: https://loom.ly/4djS9eg #RareDiseases #Research #PatientCare #EJPRD #ERDERA #HorizonEurope"

NEW! Article “It’s time to put compassion back into compassionate care” by Sir Al Aynsley-Green! It is wonderful to see this article from Collaborative Research Network (CRN) member and fierce advocate Sir Al Aynsley-Green. Families deserve more compassion, and we must work together to make it happen. Congratulations Sir Al! You can read the full article at https://lnkd.in/gdpknGuB 🔗 #hyperinsulinism #raredisease #congenitalhyperinsulinism #hypoglycemia | Hyperinsulinism | Congenital | HI | Hypoglycemia | Rare Disease

This week, our Alexion Canada General Manager, Karen Heim, took part in a panel discussion at the Canadian Organization for Rare Disorders Fall 2024 Rare Disease Conference in Montreal. The group discussed the recent study that examined the economic cost of living with a rare disease across Europe and what opportunities exist for addressing these costs in Canada. Karen highlighted three key themes to address the ongoing challenges for those living with rare diseases: - Reducing the time to access innovative therapies - Reducing time to diagnosis - Increased data sharing and collection Through collaboration with stakeholders across the healthcare system, we can create better outcomes for patients and their families. #RareDisease #HealthcareInnovation #Collaboration Bill Dempster, Durhane Wong-Rieger, Rebeccah Marsh, Tara Cowling

The goal of this study was to confirm the link between vitamin D levels and COVID-19 severe pneumonia. This prospective case-control study involved 307 patients who developed severe SARS-CoV-2 pneumonia and were hospitalized in an intensive care unit. Age- and sex-matched controls (307) were selected from the same population; 307 patients with mild to moderate forms of COVID-19 who were not hospitalized. Vitamin D levels were assessed during the duration of the disease. Read this full article here: https://lnkd.in/d2bztrC4 #covid19 #vitamind #pneumonia #covidstudy #openaccess #research #innovation