Special Issue on Frontiers in Rare Diseases

Frontiers in Rare Diseases represents a rapidly evolving area of research dedicated to advancing knowledge and innovation in the diagnosis, understanding, and treatment of rare and ultra-rare conditions. It brings together cutting-edge developments in genomics, molecular biology, and translational medicine to elucidate disease mechanisms, identify novel biomarkers, and enable targeted therapeutic strategies, including gene and cell-based interventions. Emphasis is placed on early and accurate diagnosis, precision medicine approaches, and improved patient outcomes through innovative technologies and collaborative research efforts. This area also addresses key challenges such as limited patient populations, data scarcity, regulatory complexity, and equitable access to therapies, driving progress in global rare disease research and healthcare.

In this special issue, we intend to invite front-line researchers and authors to submit original research and review articles on exploring Frontiers in Rare Diseases. Potential topics include, but are not limited to:

• Rare disease genomics
• Orphan drug development
• Precision medicine for rare diseases
• Molecular diagnostics of rare disorders
• Biomarker discovery in rare diseases
• Gene therapy for rare conditions
• Cell-based therapies for rare diseases
• Epidemiology of rare diseases
• Clinical trials in rare diseases
• Pediatric rare diseases
• Neurogenetic disorders
• Metabolic rare diseases
• Immunological rare disorders
• Rare cancer research
• Patient registries and data sharing
• Ethical and regulatory issues in rare diseases

Authors should read over the journal’s For Authors carefully before submission. Prospective authors should submit an electronic copy of their complete manuscript through the journal’s Paper Submission System Frontiers in Rare Diseases.

Please kindly specify the “Special Issue” under your manuscript title. The research field “Special Issue - Frontiers in Rare Diseases” should be selected during your submission.

Special Issue Timetable:

Guest Editor:

Dr. Jasneth Mullings

Lecturer/Dean/Epidemiologist

Health Research Resource Unit

The University of the West Indies, India

For further questions or inquiries, please contact Editorial Assistant at

E-mail: [email protected]

JBM Editorial Office

[email protected]