All following BMC and Springer articles are published on the open access model. All articles are free to read, copy, distribute, and use (providing attribution is given). Also check our Nature temporary free articles here below!

Orphanet Journal of Rare Diseases: A shock to the (health) system: experiences of adults with rare disorders during the first COVID-19 wave This qualitative survey conducted among 759 participants representing 231 unique rare diseases (RDs) assessed the experiences of individuals with Rare Diseases and their caregivers during the initial phases of the COVID-19 pandemic. 

Embracing the unknown: investigating medical communication around uncertainty and the implications on patient and family well-being This article provides insight into an entire family's perspective on what battling a rare disease is like. It raises awareness about incertainty in mediciene and the importance of how it should be carefully communicated with rare disease patients.

Journal of Rare Diseases:  A brief insight into the rare diseases in Egypt sheds the light on Egyptian achievements and efforts in the field of rare diseases to prioritize the rare genomic diseases to be studied in Egypt.

Neuro-cognitive complications of nephropathic cystinosis , a rare disorder of cystine metabolism. Although renal failure is the earliest complication of this condition, all organs of the body eventually become involved.

International Journal for Equity in Health: Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective

Horizontal healthcare utilization inequity in patients with rare diseases in Korea

Make sure you don't miss our temporary free reads too! The following Nature Reviews Methods Primers will be free to access by non-subscribers for 1 month starting February 29th, 2024:

Designing clinical trials for rare diseases: unique challenges and opportunities.

The following Nature Reviews Genetics will be free to access by non-subscribers for the period of 29th Feb - 14th March 2024:

Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans

Genomic newborn screening for rare diseases

The expanding diagnostic toolbox for rare genetic diseases

Discover our related Springer OpenAccess chapters:

Book: Critical Issues in Head and Neck Oncology 

Chapter: Patients with Rare Head Neck Cancers: Do They Need a Different Approach? By unraveling tumor characteristics therapeutic strategies tailored to the patient’s tumor can be rationalized. This genomic profiling and mapping of immunohistochemical expression profiles, is essential in the search for a suitable treatment or study approach.

Chapter: New Systemic Therapies in Salivary Gland Cancer Salivary gland cancers (SGC) are rare malignancies with distinct molecular, histologic, and clinical characteristics. This chapter gives a comprehensive overview of novel approaches to systemic therapy for patients with recurrent or metastatic SGC.

Book: Surgery in and around the Orbit

Chapter: Graves’ Disease: Introduction Graves’ disease is a multisystem disorder and the most common autoimmune disease. Fifty percent of patients with Graves’ disease shows orbital involvement, called Graves’ orbitopathy. 

You may also wish to browse related non-open access Springer Books, on which there is a Special offer. Enjoy 20% off these two titles, as a printed book or eBook, by entering the following coupon code at checkout on link.springer.com: S2QcZ8CLhwghoM / Valid Feb 29, 2024 – Mar 28, 2024

Book: Orphan Lung Diseases: A Clinical Guide to Rare Lung Disease Edited by V. Cottin, L. Richeldi, K. Brown, F. X. McCormack, the 2nd edition fully reviews the wide field of rare pulmonary diseases. Issues such as less common diseases affecting the airways, systematic disorders with lung involvement, interstitial lung diseases, and many other orphan conditions of the lungs are explored in this book. 

Book: Gaps and Actions in Health Improvement from Hong Kong and Beyond: All for Health Edited by Ben Yuk Fai Fong, William Chi Wai Wong, the book is an up-to-date publication on public health strategies, service delivery, and policies. It features contributions by academics and practitioners in areas of public health and the social sciences.

Did you know we also feature a Series on Rare Diseases of the Immune System ? You can get 20% off the printed book or eBook. Enter the following coupon code at checkout on link.springer.com to apply discount: S2QcZ8CLhwghoM / Valid Feb 29, 2024 – Mar 28, 2024

Books: Rarer Arthropathies, Genetics of Rare , Autoimmune Diseases, and Large and Medium Size Vessel and Single Organ Vasculitis The series editors are acknowledged experts on immune diseases who have published extensively on the topic. This series is indexed in Scopus and a valued resource for immunologists, rheumatologists, hematologists and medical practitioners. 

A dedicated 20% off discount is also available for this Springer Book on Rare Rheumatic Diseases of Immunologic Dysregulation, from the Springer Series Rare Rheumatic Diseases, by redeeming the coupon code at checkout on
link.springer.com to apply discount: S2QcZ8CLhwghoM / Valid Feb 29, 2024 – Mar 28, 2024.

Book: Rare Rheumatic Diseases of Immunologic Dysregulation Edited by Teresa Kathleen Tarrant: a practical reference tool for rheumatologists that focuses on uncommon diseases of immunologic dysregulation, taking scattered research and treatment recommendations to create a single reference for these rare diseases, offering coverage from pathology to diagnosis to treatment and outcomes.