Special Issue

Topic: Advances in Mucopolysaccharidosis and Alpha Mannosidosis

A Special Issue of Rare Disease and Orphan Drugs Journal

ISSN 2771-2893 (Online)

Submission deadline: 31 Dec 2024

Guest Editor(s)

Dr. Karolina Stepien
Northern Care Alliance NHS Foundation Trust, Salford, United Kingdom.
Dr. Iain Hargreaves

Pharmacy and Biomolecular Sciences, Faculty of Science, Liverpool John Moores University, Liverpool, United Kingdom.

Dr. Chaitanya Gadepalli

Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom.

Special Issue Introduction

Mucopolysaccharidoses (MPS) and Alpha-Mannosidosis are rare lysosomal storage disorders characterized by the deficiency of specific lysosomal enzymes, leading to the accumulation of complex sugars. These disorders often present early in life with severe clinical symptoms that significantly impact patients' quality of life and lifespan. Despite recent advancements, diagnosing and treating these conditions still presents significant challenges.

The Special Issue "Advances in Mucopolysaccharidosis and Alpha-Mannosidosis" aims to compile and showcase the latest research findings and clinical practices to propel progress in diagnosing and treating these rare diseases. We invite researchers, clinicians, and industry experts to submit original research, reviews, and perspectives to share their latest discoveries and experiences in this field.
● Genetic and Molecular Insights: Discoveries related to gene mutations, enzyme deficiencies, and molecular pathways involved in MPS and Alpha-Mannosidosis;
● Diagnostic Innovations: Development of new biomarkers, advancements in genetic testing, and imaging techniques for early and accurate diagnosis;
● Therapeutic Approaches: Progress in enzyme replacement therapies, gene therapies, stem cell treatments, and new drug developments;
● Clinical Trials and Patient Care: Findings from clinical trials, patient management strategies, long-term follow-up studies, and assessment of treatment efficacy and safety;
● Emerging Technologies: Utilization of CRISPR gene editing, RNA interference, and nanotechnology in therapeutic interventions.

Through this Special Issue, we aim to foster interdisciplinary collaboration and inspire innovative thinking in the research and treatment of MPS and Alpha-Mannosidosis. We believe this issue will provide valuable insights for readers and drive advancements in this cutting-edge field.

Submission Deadline

31 Dec 2024

Submission Information

For Author Instructions, please refer to https://www.oaepublish.com/rdodj/author_instructions
For Online Submission, please login at https://oaemesas.com/login?JournalId=rdodj&IssueId=rdodj240725
Submission Deadline: 31 Dec 2024
Contacts: Cyndi Guan, Assistant Editor, assistant_editor@rdodjournal.com

Published Articles

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Rare Disease and Orphan Drugs Journal
ISSN 2771-2893 (Online)
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