About the journal

Translational Science of Rare Diseases

Translational Science of Rare Diseases features independent, original research articles as well as in-depth reviews of specific rare diseases and therapeutics and opinion pieces from regulators, patient advocates and leading industry and academic researchers focused on rare diseases.

The journal has forged strong connections with and access points to the global rare diseases network that transcend national boundaries and stimulate multidisciplinary and international collaboration.

“Taking the broadest perspective, the journal is intended to engage the energies of the international medical community and encompass fundamental, translational, and clinical trial design to advance studies related to rare diseases. Our goal has been and remains the creation of a platform that creates conversations leading to effective treatment and, ultimately, a cure.”
        --Editors-in-Chief, Rashmi Gopal-Srivastava, PhD, and Alan K. Percy, MD

This journal welcomes original scientific articles focused on all aspects of rare disease research, from genetic defect to a defined and validated intervention, including:

  •      Target identification for intervention in specific rare diseases
  •      Systems biology research that may lead to binning currently disparate rare diseases
  •      Preclinical data supporting small molecules
  •      Molecular diagnostics
  •      Biologic, gene therapy or cell-based approaches to therapeutics
  •      Novel animal models for rare diseases applications
  •      Research related to repositioning approved or late stage clinical compounds for rare diseases

The emphasis 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
  •      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
  •      Construction of new informatics tools for registry building

The journal also focuses on issues of regulatory policy for rare disease; including:

  •      Reports on new orphan designations
  •      Changes in regulatory policy and policies of rare disease reimbursement
  •      Patient perspectives

Article Submission

Translational Science of Rare Diseases offers contributing authors many benefits, including:

  •      Open Access fees waived for authors publishing in 2023
  •      Rigorous peer review and speedy manuscript processing
  •      Rapid online publication

Peer Review Policy

All published articles in Translational Science of Rare Diseases have been subject to rigorous peer review, based on an initial editorial screening and anonymous refereeing by a minimum of two referees.