Rare Disease Day, observed annually on February 28th, is a globally coordinated movement aimed at raising awareness about rare diseases and the consequences they have for the 300 million people who suffer from them worldwide.

Rare diseases affect not only the people who have them but also their families and caregivers. They are also sometimes known as orphan diseases because drug companies have a low interest in developing treatments for them.

Rare diseases are defined differently in different countries. For example, a disease is considered rare in the United States if it affects fewer than 200.000 people. In the European Union, a rare disease is considered as such if it affects fewer than one in every 2,000 people, whereas in Canada if it affects fewer than five in 10,000 people.

Today, we want to focus on the importance of research in the advancement of care, treatment, and drug discovery for rare diseases by highlighting some of our collections that bring you the most recent discoveries in this field, while also reiterating our commitment to the promotion of the Sustainable Development Goals and progress on SDG3 on Good Health and Well-Being.

Drug Repurposing Research by REPO4EU

Drug Repurposing Research Collection is a new collection that will provide researchers with the latest insights in drug repurposing and support REPO4EU’s mission towards an industry-level European online platform for validated precision drug repurposing.

REPO4EU is a Horizon Europe project launched last year as an ambitious joint initiative that aims to create a connected European Platform for Drug Repurposing. ScienceOpen is part of this important consortium and is providing all of its technological infrastructure and know-how to support the free dissemination of knowledge generated by the project.

Follow REPO4EU’s journey from imprecise drug therapy to precision medicine and stay up-to-date with their research which will facilitate new developments in this area.

Check out the Drug Repurposing Research directly on the website of REPO4EU and explore topics related to rare diseases on ScienceOpen through some highlighted articles below:

• Identifying obstacles hindering the conduct of academic-sponsored trials for drug repurposing on rare-diseases: an analysis of six use cases
• A state-of-the-art review of tamoxifen as a potential therapeutic for duchenne muscular dystrophy
• The Role of Propranolol as a Repurposed Drug in Rare Vascular Diseases
• The precision medicine process for treating rare disease using the artificial intelligence tool mediKanren
• Clustering rare diseases within an ontology-enriched knowledge graph

Pan African Medical Journal’s contribution to rare diseases research

The Pan African Medical Journal is a journal that aims to raise awareness about African medical researchers’ contributions to the international scientific community by making their publications freely available to all researchers worldwide. It is intended exclusively for professionals in the medical, paramedical, public health, and other health sectors, and there are tens of articles on the topic of rare diseases featured in their ScienceOpen collection, not only in English but also in French.

Discover some of their articles on rare diseases below:

• Peripartum cardiomyopathy: alluring challenge – case series and review of literature
• Juvenile recurrent parotitis in a 4-year-old patient: a case report
• Encéphalite limbique paranéoplasique compliquant un adénocarcinome pulmonaire: à propos d’un cas / Translated Title: Paraneoplastic limbic encephalitis complicating pulmonary adenocarcinoma: a case report
• Challenges in diagnosis and management of neonatal hyperparathyroidism in a resource-limited country: a case series from a Sudanese family
• Syndrome de la personne raide associé à une dermatite herpétiforme: à propos d’un cas / Translated title: Stiff person syndrome associated with dermatitis herpetiformis: a case report – ScienceOpen

ScienceOpen’s discovery interface, through its community engagement tools, enables researchers to initiate and promote discussion on the topics of rare diseases, regardless of how rare the disease is or how few publications have been published on it.

Medical Collections by Karger

Karger Publishers has an impressive content collection of over 146.000 titles on ScienceOpen, with publications focused on various medical fields such as oncology, gastroenterology, dermatology, neurology and neuroscience, endocrinology, and so on, as well as hundreds of publications on the topic of rare diseases in these fields, which you can access here.

Karger’s contributions to medicine aim to assist researchers in keeping up with the vast and rapidly expanding research literature, as well as to provide the quality assurance of rigorous peer review and editorial selection.

You can use all of the enhanced search and discovery filtering options on ScienceOpen, such as sorting content by date, citations, and readership, and discovering related content from our ever-growing network of 84 million research articles. This is a great way for researchers to get the most out of their profiles on ScienceOpen and stay up-to-date on the most recent and relevant research in their fields of interest.

Some of the most recent publications on rare diseases by Karger Publishers:

• Creutzfeldt-Jakob Disease in South West Sydney 2014–2020: An Unusually High Incidence of a Rare Disease
• Structural Endpoints and Outcome Measures in Uveitis
• First Report of Fulminant Budd-Chiari Syndrome Treated by Direct Intrahepatic Portocaval Shunt in Vietnam
• Lethal Encephalopathy in an Infant with Hypophosphatasia despite Enzyme Replacement Therapy
• Duodenal Gastrointestinal Stromal Tumor: A Rare Disease in a Young Adult Female Patient Presenting with Life-Threatening Hemorrhage
• Mirizzi-Induced Bouveret’s Syndrome: Revelations of Timely Surgical Intervention

Latest insights on rare diseases research in endocrinology on Bioscientifica’s collection

The Bioscientifica Open Endocrinology & Reproduction collection consists of high-quality open-access articles from Bioscientifica’s high-impact endocrinology and reproduction journals.  This collection includes consists of articles, case studies, and reports on a wide range of Endocrinology research topics, including rare diseases and the advancement of therapies in the field.

• Educational and knowledge gaps within the European reference network on rare endocrine conditions
• Targeted next-generation sequencing of cancer genes in poorly differentiated thyroid cancer
• Beyond hormone replacement: quality of life in women with congenital hypogonadotropic hypogonadism
• Need for improved monitoring in patients with acromegaly
• Hypogonadotropic hypogonadism and pituitary hypoplasia as recurrent features in Ulnar-Mammary syndrome

ScienceOpen’s collaboration with various publishers such as Bioscentifica, through our diverse range of publishing solutions for their journals, directly supports scientific communication on rare diseases within our user community and beyond.

Research by UCL on Rare Diseases

The University College London (UCL) has dedicated a topical collection to all articles related to SDG3 published by students, faculty, or staff of UCL, which aims to achieve universal health and well-being for everyone by 2030. A simple search on their collection for the term “rare diseases” generates a list with more than 100 publications covering advances in diagnostics, clinical care provision, and potential treatments to reverse the effects of rare diseases.

This list includes groundbreaking research on diseases like the Mendelian Disease, which affects only 7,300 people worldwide, as well as Amyloidosis, Gitelman syndrome, Duchenne muscular dystrophy, and other rare conditions. you know for example that there are only 7,300 cases of Mendelian Disease around the world?

• Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
• Expert Consensus Recommendations for the Suspicion and Diagnosis of Transthyretin Cardiac Amyloidosis
• Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
• Stakeholder cooperation to overcome challenges in orphan medicine development: the example of Duchenne muscular dystrophy
• Whole-genome sequencing of patients with rare diseases in a national health system

Follow their collection here and spread the word on their contribution to SDG3 and to fighting and curing rare diseases.

Join the movement and help raise awareness on rare diseases. Find out more on Rare Disease Day 2023.