Aims & Scope

Although the term ‘rare disease’ suggests a comparatively small impact, it has been estimated that around one in 15 people are affected by such a disorder worldwide.

Between 5000 and 8000 rare diseases have been identified to date, with each disorder affecting one person in 2000 or less, according to the WHO definition.

Many are genetic disorders, but the field also encompasses other areas, for example rare infectious diseases.

Many of these disorders are chronic, progressive, life-threatening illnesses, with many affected from birth or early childhood.

In recent years, increased attention has been given to rare disease research, with funding for the development of innovative treatments and the establishment of research groups and networks.

However, challenges remain, many of which are unique to rare diseases – limited numbers of experts in a particular disorder; the development of treatments where the underlying disease pathophysiology may not be fully understood; clinical study design with limited numbers of patients, many of them children; and diagnosis of a disease clinicians may not be previously aware of.

Patient advocacy is a vital aspect of the rare disease landscape, and such groups work with scientists and governments in many ways to try and overcome some of the challenges mentioned above.

View Aims & Scope

Metrics & Ranking

Journal Rank

Year Value
2024 18597

Journal Citation Indicator

Year Value
2024 35

SJR (SCImago Journal Rank)

Year Value
2024 0.250

Quartile

Year Value
2024 Q3

h-index

Year Value
2024 5

Abstracting & Indexing

Journal is indexed in leading academic databases, ensuring global visibility and accessibility of our peer-reviewed research.


Subjects & Keywords

Journal’s research areas, covering key disciplines and specialized sub-topics in Medicine, designed to support cutting-edge academic discovery.


SJR (SCImago Journal Rank)

SJR
0.250
First Published: 2024

Quartile

Current Quartile
Q3
First Published: 2024

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