Translational Science of Rare Diseases
Published by SAGE (Journal Finder)
ISSN : 2214-6490 eISSN : 2214-6512
Abbreviation : Transl. Sci. Rare Dis.
Aims & Scope
This journal will accept original scientific articles focused on all aspects of rare disease research; from genetic defect to a defined and validated intervention.
This will include basic research related to target identification for intervention in specific rare diseases, systems biology research that may lead to binning currently disparate rare diseases, preclinical data supporting small molecule, biologic, gene therapy or cell based approaches to therapeutics, novel animal models for rare diseases applications, and research related to repositioning approved or late stage clinical compounds for rare diseases.
The focus also extends to clinical research in rare diseases spanning basic research to surmount the overarching problems of clinical trials for small patient populations, patient recruitment and retention, and power, use of novel adaptive clinical trial design, natural history studies, endpoint and clinical outcome criteria that may be broadly applicable, better diagnostic criteria for diseases that are defined by extreme phenotypes.
Another topic of clinical interest will be the construction of new informatics tools for registry building.
There will also be a focus on issues of regulatory policy for rare disease; including reports on new orphan designations, changes in regulatory policy and policies of rare disease reimbursement as well as patient perspectives.
The journal will feature independent, original research articles as well as in-depth review of specific rare diseases and therapeutics, and opinion pieces from regulators, patient advocates and leading industry and academic researchers focused on rare diseases.
View Aims & ScopeMetrics & Ranking
SJR (SCImago Journal Rank)
| Year | Value |
|---|---|
| 2024 | 0.115 |
Quartile
| Year | Value |
|---|---|
| 2024 | Q4 |
h-index
| Year | Value |
|---|---|
| 2024 | 2 |
Journal Rank
| Year | Value |
|---|---|
| 2024 | 27932 |
Journal Citation Indicator
| Year | Value |
|---|---|
| 2024 | 3 |
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.
Most Cited Articles
The Most Cited Articles section features the journal's most impactful research, based on citation counts. These articles have been referenced frequently by other researchers, indicating their significant contribution to their respective fields.
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The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity
Citation: 55
Authors: Melissa A.
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Opportunities, barriers, and recommendations in Down syndrome research
Citation: 52
Authors: James A., Angelika, Leonard, Stamatis, Tarek, Heather A., Lisa J., Nicole, Anita, Dusan, Kelly N., George, Priya, Isabelle, Brian, Cécile, Lara R., Sophie, Anna, Juan, Sandra, Ann-Charlotte, Laura J., Elizabeth, Hampus, Lisa M., Matthew P., Joan M., Angela R., Raymond D., Bernard, Jeanne B., Catherine, Amy Feldman, William, Paul E., Linda Pollak, Nicolas M., Ricardo S., David, Sonja A., Roger H., Nancy, Stephanie, Stephanie L., Nasreen, Ignacio E., Kyle M., Steven F., A. Nicole, G. William, John S.
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Primary ciliary dyskinesia (PCD): A genetic disorder of motile cilia
Citation: 48
Authors: Margaret W., Amjad, BreAnna, Michael G., Maimoona A., Michael R.
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Glycogen storage diseases: Diagnosis, treatment and outcome
Citation: 39
Authors: Margaret A., David A.
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Marking 15 years of the Genetic and Rare Diseases Information Center
Citation: 14
Authors: Janine, Michelle, Henrietta
