International Journal of Rare Diseases and Disorders is an open access, peer reviewed journal focused to raise awareness of rare diseases among physicians, clinicians and other medical professionals. The journal majorly covers conditions in rare genetic diseases, skin conditions, heart conditions, blood disorders, cancers, pediatric conditions, infectious diseases, and soft tissues.
Journal selectively publishes articles those qualify the thorough peer review process and meet the international standards of scientific publishing. All published articles are made available online as soon they are published without accession barriers. The journal invites original, reviews, cases and other type of articles including but not limited to the areas of allergic and immunologic disorders, benign neoplasms, cancers, cardiac and vascular conditions, endocrine and metabolic disorders, gastroenterologic conditions, hematologic disorders, infectious diseases, musculoskeletal conditions, neurologic conditions, ophthalmologic conditions, pediatric diseases, rheumatologic disorders, skin and soft tissue conditions, etc.
Journal Information
Title: International Journal of Rare Diseases & Disorders
ISSN: 2643-4571
Editor-in-chief: Khue Vu Nguyen
NLM title abbreviation: Int J Rare Dis Disord
ISO abbreviation: Int J Rare Dis Disord
Other titles: IJRDD
Category: Rare Diseases
DOI: 10.23937/2643-4571
Peer review: Double blind
Review speed: 3 weeks
Fast-track review: 10 days
Publication format (s): Electronic and print
Publication policy: Open Access; COPE guide
Publication type(s): Periodicals
Publisher: ClinMed International Library
Country of publication: USA
Language: English
Contact email: contact@clinmedjournals.org
Articles Search by Keyword | Journal title | Author name | DOI
Open Access DOI:10.23937/ijrdd-2017/1710007 Cladribine in the Treatment of Systemic Mastocytosis, a Review of the Literature Marlies EHM and Van Hoef, MD, Phd, MBA Article Type: REVIEW ARTICLE | First Published: March 07, 2019 Mastocystosis is a rare disease for which treatment with cladribine (2-chlorodeoxyadenosine) was first reported in 2001. Cladribine has meanwhile been administered in over hundred reported cases and is available for intravenous and subcutaneous administration. Cladribine has mainly been used in systemic mastocytosis and in larger series responses were obtained in over 50% of cases in which treatment with H1/H2 blockers, interferon or tyrosine kinase inhibitors did not induce a response. Literatu...
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Open Access DOI:10.23937/ijrdd-2017/1710006 Is Phoenicia the Origin of the N1303K CFTR Mutation? Raed Farhat, Marie Claude Pasquet, Sandra Corbani, Andre Megarbane, Alain Kitzis and Veronique Ladeveze Article Type: Commentray | First Published: January 26, 2019  The history of Lebanon, characterized by flows of different ethnic groups, has enabled the introduction of new genes and a wide variety of genetic diseases. The early development of medical services in Lebanon has facilitated the detection of many inherent disorders. CF figures among the 184 reported genetic diseases of the Lebanese population. Even though no epidemiological studies were performed to determine the CF incidence in Lebanon, multipl...
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Open Access DOI:10.23937/ijrdd-2017/1710005 Mark Nuijten, Hans Joerg Fugel and Jan Vis Article Type: Research Article | First Published: December 19, 2018 The current policy for price negotiations on high prices of orphan drugs in Europe is neither a transparent nor a structural solution for reimbursement decisions for orphan drugs. In a previous paper, we proposed the Discounted Cash Flow model as an alternative assessment methodology for the price of innovative drugs including the investor's perspective. The objective of this current paper was to apply this concept to orphan drugs in The Netherlands, where pharmaceutical companies were recently ...
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Open Access DOI:10.23937/ijrdd-2017/1710004 Retinal Overload Individualized during Hurler-Scheie Disease: Case Study Observations Amine Hamma Article Type: Case Report | First Published: July 11, 2018  Hurler-Scheie disease is an intermediate form of mucopolysaccharidosis type I. It is a rare metabolic disease that is transmitted in an autosomal recessive mode and causes overload of mucopolysaccharides in all organs including the eye....
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Open Access DOI:10.23937/ijrdd-2017/1710003 Concurrent Breast Cancer and Thymoma in an Immune Reconstituted HIV Positive Patient SJ Winceslaus, Venkateshwaran Sivaraj, Julia Hall and Ramsay Singer Article Type: Case Report | First Published: April 21, 2018 The expectation that the introduction of modern cART against HIV, leading to viral suppression and functional cure, would also herald complete immunological recovery has not materialised. In reality, even with the most effective cART, complete immunological recovery is seldom achieved, especially, if initiated at later stages of the disease. Thus, patients who do not achieve full immunological recovery remain at increased risk of cancers, chronic immune activation, inflammation and impaired coag...
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Open Access DOI:10.23937/ijrdd-2017/1710002 Contreras Roura Jiovanna, Robaina Zoe, Camayd Viera Ivette, Gonzalez-Gomez JC, Perez Garcia E, Martinez-Rey Laritza and Padron Aurelio David Article Type: Original Article | First Published: March 29, 2018  Gyrate atrophy (GA) of the choroid and retina (GACR) is an extremely rare inherited retinal dystrophy. The disease is an autosomic recessive disorder, caused by mutations in the ornithine aminotransferase gene (OAT), which is localized on chromosome 10q26....
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Open Access DOI:10.23937/ijrdd-2017/1710001 Hereditary Ichthyosis and Achieving the Oral Mucosa, Retrospective Study of 33 Cases Pr Omar Boudghene Stambouli and Dib Lachachi Amina Article Type: Case Study | First Published: October 19, 2017  This is the most frequent and is transmitted on an autosomal dominant mode. It appears from the first months of life and is manifested by flaky scales on the faces of extension of the limbs and convexities in general. The face and the large folds are respected....
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