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Medscape Education and Medics4RareDisease Partner On Rare Disease Day Awareness Campaign

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Medscape Education

24 Feb, 2023, 09:01 GMT

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The campaign will form a series of short programs produced by ITN in collaboration with Genetic Alliance UK that will advocate for a pragmatic, "single discipline" approach to rare disease education. 

NEW YORK, Feb. 24, 2023 /PRNewswire/ -- Medscape Education and Medics4RareDisease announce today their collaboration on a Rare Disease Day awareness campaign. The campaign will form part of a series of short programs produced by Independent Television News (ITN) in collaboration with Genetic Alliance UK.    

Launching on 28th February for Rare Disease Day 2023, the campaign will advocate for a pragmatic, "single discipline" approach to rare disease education. The aim is to empower medical professionals with the right education to suspect, diagnose, and manage rare conditions.   

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Medscape_Rare_Disease

The campaign will comprise a news-style video featuring Dr. Lucy McKay, CEO of Medics4RareDisease; Christy Rohani-Montez, Ph.D., Medscape Education Global Director of Clinical Strategy; Professor Sir Mark Caulfield, Vice Principal for Health, Queen Mary University of London; and patient advocate Dan Jefferies.   

Approximately 7,000 known rare diseases and new conditions are being described in medical literature regularly.1 While practicing doctors may never see a specific rare disease in their lifetime, collectively, rare diseases are common. One in 17 people will be affected by a rare disease at some point in their lives, which amounts to 3.5 million people in the UK and 30 million people across Europe.2 Despite the high prevalence of rare diseases, a Medscape Membership Survey in Rare Disease showed that two-thirds of physicians considered rare diseases to be 50 to 500 times rarer as compared with standard EU or US definitions, and 59% said they never or only rarely (once or twice a year) see patients with a rare condition even though based on prevalence estimates they should see rare conditions weekly.3 These data demonstrate the existence of a large education gap that is contributing to the significant delay in diagnosis for millions of people. The average time for accurate diagnosis of a rare disease is between 4 to 5 years and sometimes more than 10 years between the first symptom onset and a correct diagnosis.4-7 

"Those living with a rare disease often face a long and complicated road to diagnosis and appropriate treatment. Approaches in rare diseases are evolving every day, and our goal is to help clinicians stay current through education," says Christy Rohani-Montez. "We hope this video will help spread awareness about the importance of diagnosing rare diseases earlier. In medical school, physicians are told that when they hear hoofbeats, they should think 'horses,' not 'zebras.' We want physicians to understand that zebras are not as rare as they think."  

While education is needed, rare disease education does not mean trying to learn about 7000 rare diseases. Medscape and M4RD are jointly advocating the use of a single-discipline approach to train medical professionals on the basics of rare diseases. The hope is that one day this type of pragmatic training will be compulsory and included in all medical curriculums.   

"There is a gap in medical education when it comes to the basics of rare diseases. By understanding what a rare disease is and how this rarity impacts patients and families, doctors can transform their patients' experience," says Dr. Lucy McKay. 

Medscape is already trailblazing this single-discipline approach with a dedicated learning centre, Pathways in Rare Disease, which provides clinicians the education they need to diagnose and care for the estimated 300 to 400 million people worldwide who live with a rare disease.  

The learning centre contains a variety of tools, resources, patient voices, case challenges, and educational activities that span multiple specialties, all housed in one place, with new content continuously being added.   

Learn more and view a trailer for this campaign at https://www.pmlive.com/pmhub/medical_education/medscape_education_global/videos/together_caring_for_rare_disease 

About Medscape Education

Medscape Education (medscape.org) is the leading destination for continuous professional development, consisting of more than 30 specialty-focused destinations offering thousands of free CME and CE courses for physicians, nurses, and other healthcare professionals. 

  1. Haendel M, et al. How many rare diseases are there? Nat Rev Drug Discov. 2020;19:77-78. 
  2. European Commission – European Commission. Rare diseases. 2020. Accessed January 18, 2023. https://research-and-innovation.ec.europa.eu/research-area/health/rare-diseases_en 
  3. Rohani-Montez SC, Bomberger J. Education needs in diagnosing rare diseases: a clinician survey. Mol Ther. 2022;30(4S1):255. 
  4. Engel PA, et al. Physician and patient perceptions regarding physician training in rare diseases: the need for stronger educational initiatives for physicians. J Rare Disord. 2013;1:1-15. 
  5. Global Genes. Accurate diagnosis of rare diseases remains difficult despite strong physician interest. 2014. Accessed January 18, 2023. https://globalgenes.org/2014/02/20/accurate-diagnosis-of-rare-diseases-remains-difficult-despite-strong-physician-interest-2/ 
  6. Marwaha S, et al. A guide for the diagnosis of rare and undiagnosed disease: beyond the exome. Genome Med. 2022;14:23. 
  7. Yan X, et al. Determining How far an adult rare disease patient needs to travel for a definitive diagnosis: a cross-sectional examination of the 2018 National Rare Disease Survey in China. Int J Environ Res Public Health. 2020;17:1757.e

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