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Elsevier Offers Free Content for Rare Disease Day
[February 26, 2020]

Elsevier Offers Free Content for Rare Disease Day

Starting February 29, 2020, Elsevier will make clinical review articles and book chapters openly accessible for 60 days to raise awareness of rare diseases

NEW YORK, Feb. 26, 2020 /PRNewswire/ -- Elsevier, a global leader in information analytics, specializing in science and health, is making clinical review articles and book chapters on rare and undiagnosed diseases free for 60 days beginning on Rare Disease Day (#RareDiseaseDay), February 29, 2020. The free content consists of clinical review articles and book chapters intended to support new research and treatment and to raise awareness around rare diseases.

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Rare Disease Day improves knowledge amongst the general public of rare diseases, while supporting researchers, clinicians, public authorities, industry representatives and other decision makers in addressing the needs of those living with rare diseases1. There are approximately 7,000 known rare diseases, and roughly 300 million people worldwide suffer from one of these diseases2,3. Rare disease symptoms range widely from disease to disease, and even from person to person, making diagnosis and treatment difficult. Today, 95 percent of rare diseases still lack an FDA approved treatment and research funding is scarce compared to funding for common disease research4. Those affected by rare disease often face challenges searching for a diagnosis, finding the information they need and gaining access to quality health care. Meanwhile, these individuals remain socially, economically and culturally vulnerable5.

Since Rare Disease Day was first launched by EURORDIS (European Organization for Rare Diseases) and its Council of National Alliances in 2008, thousands of rare disease events have taken place throughout the world, reaching hundreds of thousands of people. Its website provides information about local and worldwide events. In an effort to support its clinical and scientific audiences globally, Elsevier's Education, Reference, and Continuity group is participating in this year's events by opening up access to highly utilized content–from book chapters to clinical review articles–on rare diseases.

This content supports researchers and clinicians in identifying the molecular basis of these diseases, advancing drug discovery and drug repurposing efforts, translating findings to the clinic, and counseling patients and families. Leading articles from Elsevier's Clinics volumes detail a range of specific diseases, from rare mitochondrial disease to autoimmune disorders. The general public, policy makers and administrators will also find information on the challenges of living with rare disease, economic costs and social aspects of rare disease. 

"Diagnosis, patient care, and long-term management of patients with any of these 7,000 rare diseases can be confounding. In offering this content, we hope to reinforce our commitment to supporting rare disease communities and individuals with rare disease, advancing rare disease research and empowering medical practice in this area," said Laura Colantoni, Vice President, Reference Content, Elsevier.

Please see the links below to freely access these chapters and articles through April 30, 2020. Access to the promotion of these articles and chapters can also be found on Elsevier's Twitter accounts, and access to worldwide promotion of this event can be found via #RareDiseaseDay on February 29, 2020.

To view clinical review articles in specific specialties, visit Elsevier's Clinics Review Articles. To browse book content in this area, visit Elsevier Life Sciences and Elsevier Health.

Free content

Background, from Jules Berman, Rare Diseases and Orphan Drugs (First Edition):

Chapter 1 - What are the Rare Diseases, and Why do we Care?

Chapter 3 - Six Observations to Ponder while Reading this Book

Chapter 8 - Cancer (Rare and Common Cancers)

Chapter 9 - Causation and the Limits of Modern Genetics

Chapter 10 - Pathogenesis: Causation's Shadow

Chapter 11 - Rare Diseases and Common Diseases: Understanding their Fundamental Differences

Chapter 12 - Rare Diseases and Common Diseases: Understanding their Relationships

Chapter 13 - Shared Benefits

Genetic Testing:

Chapter 4 - Genetic Testing for Rare and Undiagnosed Diseases, Thomas Morgan, Genomic and Precision Medicine: Primary Care (Third Edition)

Society and Public Health:

Chapter 10 - The "Life Costs" of Living with Rare Genetic Diseases, Koichi Mikami, Alastair Kent, Gill Haddow, Genomics and Society (First Edition)

Chapter 3 - Rare Diseases: Genomics and Public Health, Gabriela M. Repetto, Boris Rebolledo-Jaramillo, Applied Genomics and Public Health (First Edition):

Clinical Review Articles and Textbook Chapters:

Armangue T and Dalmauln JO. Autoimmune Encephalitis. In: Kliegman RM, and St. Geme JW, eds. Nelson Textbook of Pediatrics, 21st editionPhiladelphia, PA: Elsevier; 2020.

Verbsky JW. Hereditary Periodic Fever Syndromes and Other Systemic Autoinflammatory Diseases. In: Kliegman RM, and St. Geme JW, eds. Nelson Textbook of Pediatrics, 21st edition.  Philadelphia, PA: Elsevier; 2020.

Stankovits LM, Lopyan AH: Genetic and Metabolic Conditions. Pediatric Clinics of North America, 67:1, 2019

Haralur Y, Mechtler LL: Neuroimaging of Multiple Sclerosis Mimics. Neurologic Clinics 38:1, 2020.

Ly KA, Blakely JO: The Diagnosis and Management of Neurofibromatosis Type 1. Medical Clinics of North America  103:6, 2019.  

Reich SG : Does This Patient Have Parkinson Disease or Essential Tremor? Clinics in Geriatric Medicine 36:1, 2020.  

Tevosian SG, Ghayee HK: Pheochromocytomas and Paragangliomas. Endocrinology and Metabolism Clinics of North America 48:4, 2019.  

Wong KS, Barletta JA: Thyroid Tumors You Don't Want to Miss., Surgical Pathology Clinics 12:4 2019.

Kliegman RM, Bordini BJ, Basel D, et al: How Doctors Think Common Diagnostic Errors in Clinical Judgment—Lessons from an Undiagnosed and Rare Disease Program. Pediatric Clinics of North America 64:1, 2020.

Youssef MJ, Chiu YE: Eczema and Urticaria as Manifestations of Undiagnosed and Rare Diseases. Pediatric Clinics of North America 64:1, 2020.

Kliegman RM, Bordini BJ, Basel D, et al: Undiagnosed and Rare Diseases in Perinatal Medicine: Lessons in Context and Cognitive Diagnostic Error. Clinics in Perinatology 47:1, 2020.  

Stolberg NG, Verbsky JW: Autoinflammatory Disorders with Perinatal Onset. Clinics in Perinatology 47:1, 2020.

Williams KB, Held PK, Schwoerer JS: Neonatal Metabolic Crises: A Practical Approach. Clinics in Perinatology 47:1, 2020.

Verbsky JW: When to Suspect Autoinflammatory/Recurrent Fever Syndromes. Pediatric Clinics of North America 64:1, 2017.

Routes JM, Verbsky JW: Immunodeficiency Presenting as an Undiagnosed Disease. Pediatric Clinics of North America 64:1 2017.

Notes for editors

1 What is Rare Disease Day?. EURORDIS (European Organization for Rare Diseases). Accessed January 27, 2020.

2 FAQ. NIH – GARD (Genetic and Rare Diseases Information Center) website Updated November 30, 2017

3 "Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database," by Wakap S.N., Lambert D.M., Alry A., et al. ( It appears European Journal of Human Genetics (September 2019), published by Springer Nature.

4 Navarro, C. Rare Diseases are not as Rare as They Seem. Published February 26, 2019.

5 About Rare Disease. Orphanet: the Portal for Rare Diseases and Orphan Drugs. Updated January 26, 2020. Accessed January 27, 2020.

About Elsevier

Elsevier is a global information analytics business that helps scientists and clinicians to find new answers, reshape human knowledge, and tackle the most urgent human crises. For 140 years, we have partnered with the research world to curate and verify scientific knowledge. Today, we're committed to bringing that rigor to a new generation of platforms. Elsevier provides digital solutions and tools in the areas of strategic research management, R&D performance, clinical decision support, and professional education; including ScienceDirect, Scopus, SciVal, ClinicalKey and Sherpath. Elsevier publishes over 2,500 digitized journals, including The Lancet and Cell, 39,000 e-book titles and many iconic reference works, including Gray's Anatomy. Elsevier is part of RELX, a global provider of information-based analytics and decision tools for professional and business customers.

Media contact

Christopher Capot, Global Communications


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