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Journal of Rare Diseases is a peer-reviewed journal published by Springer Nature, covering Genomics and Rare Diseases, Lysosomal Storage Disorders Research, Health Systems, Economic Evaluations, Quality of Life.
| Publisher | Springer Nature |
|---|---|
| Reference style | Superscript numbered (Nature) Superscript — small raised numerals in the text 1. Smith, A., Jones, B. & Lee, C. A representative article title. Journal of Rare Diseases 12, 45–58 (2023).
Formats any DOI in Journal of Rare Diseases style. No sign-up. |
| Publishes research in | Genomics and Rare Diseases Lysosomal Storage Disorders Research Health Systems, Economic Evaluations, Quality of Life Mitochondrial Function and Pathology Metabolism and Genetic Disorders |
| ISSN | 2731-085X |
| Citation impact (2-yr) | 0.97 |
| h-index | 8 |
| i10-index | 7 |
| Total citations | 345 |
| Open access | Yes |
| Top institutions publishing here | Newcastle University |
| You get | A submission-ready PDF and the editable LaTeX source — ready to submit. |
Citations each year’s papers have accumulated so far — the most recent years are still building up.
Abstract Purpose Consanguinity increases the likelihood of the inheritance of homozygous pathogenic alleles which may predispose to rare autosomal recessive disorders. Here we discuss the role of consanguinity in informing inherited disease with a focus on rare diseases. Methods We reviewed the literature concerning the impact of consanguinity on human diseases and chose examples to…
Abstract Human metapneumovirus (hMPV), a prominent respiratory pathogen with a history of global circulation spanning over seven decades, has re-emerged as a critical public health concern. Since late 2024, there has been a significant global surge in hMPV cases, first reported in China and subsequently spreading to countries such as the USA, India, and Pakistan.…
Abstract Background and aim Congenital disorders of glycosylation (CDG) are a large heterogeneous group of about 170 rare inherited metabolic disorders due to defective protein and lipid glycosylation. This study aimed to assemble and summarise available data on the epidemiology of CDG. Methods A set of keywords related to epidemiology and CDG was defined. The…
Abstract Rare diseases (RDs) affect a small percentage of the population but collectively impact millions worldwide. Their diagnosis and treatment remain challenging due to clinical heterogeneity, limited research, and high costs. Advances in genomics, artificial intelligence, and orphan drug development have improved diagnostic precision and therapeutic options, yet access disparities persist. Patients face not only…
Abstract We are still learning the genetic basis for many rare diseases. Here we provide a commentary on the analysis of the genetic landscape of patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD), one of the most common genetic kidney diseases. Approaches including both phenotype first and genotype first allows some interesting and informative observations…
