Elsevier Opens Books, Review Articles to Rare Disease Researchers Starting Feb. 29

Beginning on Feb. 29, Rare Disease Day, chapters from notable scientific books and clinical review articles covering rare disorders will be available free-of-charge from Elsevier.

The offer runs through April 30, and aims to supports work by researchers and clinicians into a better understanding of and treatments for rare diseases, as well as to raise awareness about these ills.

Elsevier — a science and health information analytics leader — has partnered with the research community for 140 years to curate and verify scientific knowledge.

The company’s content helps clinicians and investigators identify the molecular mechanisms underlying rare diseases, advance therapy discovery, translate findings to the clinic, and counsel patients and families. Its articles feature a host of specific disorders, from rare mitochondrial diseases to autoimmune diseases.

Statistics indicate that about 95% of rare disorders, which impact an estimated 300 million people globally, have no approved treatments. For many of these diseases, diagnosis alone can be challenging. In addition, many patients find it difficult to access information about their disorder and quality healthcare.

“Diagnosis, patient care, and long-term management of patients with any of these 7,000 rare diseases can be confounding,” Laura Colantoni, vice president of reference content at Elsevier, said in a press release.

“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,” Colantoni added.

Taking place annually on the last day of February, Rare Disease Day is focused on raising awareness about rare diseases. The effort, which includes thousands of events worldwide, is coordinated by EURORDIS-Rare Diseases Europe.

Elsevier’s Education, Reference, and Continuity Group is participating this year by offering free access to its published content, including book chapters and clinical review articles, on rare diseases.

Such content includes, from “Rare Diseases and Orphan Drugs,” by Jules Berman (1st Edition):

• Chapter 1 – “What are the Rare Diseases, and Why do we Care?”
• Chapter 3 – “Six Observations to Ponder while Reading this Book”
• 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”

Also available is Chapter 4 from “Genomic and Precision Medicine: Primary Care” by Thomas Morgan (3rd Edition), titled  “Genetic Testing for Rare and Undiagnosed Diseases.”

Chapter 10, “The ‘Life Costs’ of Living with Rare Genetic Diseases,” from “Genomics and Society” by Koichi Mikami, Alastair Kent, and Gill Haddow (1st Edition).

And Chapter 3 from “Applied Genomics and Public Health” by Gabriela M. Repetto and Boris Rebolledo-Jaramillo (1st Edition), titled “Rare Diseases: Genomics and Public Health.”

Review articles on specific diseases can be accessed through Elsevier’s Clinics Review Articles. Book content is available at Elsevier Life Sciences and Elsevier Health.

Journals published by Elsevier include “Applied and Translational Genomics,” “Clinical Immunology,” “Nanomedicine,” and “The Journal of Immunology and Regenerative Medicine.”