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Topic: Genetics, Diagnosis and Treatment of Rare Diseases

A special issue of Journal of Translational Genetics and Genomics

ISSN 2578-5281 (Online)

Submission deadline: 31 Dec 2021

Guest Editor(s)

  • Dr. Andrea L. Gropman
    Division of Neurogenetics and Neurodevelopmental Pediatrics, Children’s National Hospital and the George Washington University School of Medicine and Health Sciences, Washington, DC, USA.

    Website | E-mail

Special Issue Introduction

Individually uncommon, rare diseases collectively impact many lives and may inform our knowledge of more common conditions. With advances in molecular based technologies, our ability to detect and screen for genetic disorders has improved, and led to identification of new syndromes, almost weekly. Additionally, we are learning the functional consequences of genetic variations, some of which may serve as druggable targets. In the rare disease space, the concept of treatment has taken on several meanings including traditional pharmacological approaches specific for a condition, drug repurposing, as well as RNA based, gene therapies, oligonucleotide approaches, splice switching approaches, N of one therapies, and genome editing. This special edition entitled “Genetics, Diagnosis and Treatment of Rare Diseases” will highlight the advances in genetic technologies that have advanced diagnosis, understanding of molecular mechanisms, target identification and therapies.


Rare diseases, diagnosis, treatment, genetic variations

Submission Deadline

31 Dec 2021

Submission Information

Articles of special issue are free of charge for article processing.
For Author Instructions, please refer to
For Online Submission, please login at
Submission Deadline: 31 Dec 2021
Contacts: Jixiang Zhao, Assistant Editor,

Published Articles

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