Rare Neurogenetic Disorders in the Third Millennium: Diagnostic and Therapeutic Challenges
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".
Deadline for manuscript submissions: 15 January 2025 | Viewed by 1387
Special Issue Editor
2. Sbarro Institute for Cancer Research and Molecular Medicine, Department of Biology, Center for Biotechnology, College of Science and Technology, Temple University, Philadelphia, PA, USA
Interests: genetics of rare neurologic and neuromuscular diseases; translational neurogenetics; clinical & molecular neurogenetics; applied stem cell biology; systems neuroscience; neuropathology and experimental neurobiology; nanotechnology in nutraceuticals and functional fods; roles of autophagy in neurodegenerative diseases; clinical neurology of adults and children
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Special Issue Information
Dear Colleagues,
We invite you to contribute to the Special Issue on "Rare Neurogenetic Disorders in the Third Millennium: Diagnostic and Therapeutic Challenges".
Neurogenetic disorders represent a wide group of diseases affecting the central and/or peripheral nervous system.
Many of them lead to developmental impairment, while others predispose one to tumour development or are characterised by a prevalent motor or cognitive disorder. Many are systemic pathologies with muscle involvement, including (1) inborn errors of the metabolism, (2) fragile X syndrome, (3) Huntington's chorea, (4) spinocerebellar ataxias and other triplet-repeat diseases (TRDs), (5) Rett syndrome, (6) Neurofibromatosis 1, tuberous sclerosis complex, and other neurocutaneous syndromes, (7) Down syndrome and other neurogenic developmental conditions, and (8) muscle and peripheral nerve diseases.
Many of these disorders were first described in the 19th century, but our genetic knowledge of them is very recent, dating back to the last 25 years.
Despite significant scientific advances, rare neurogenetic diseases still present unique challenges in diagnosis, treatment, and management, underlining the critical need for targeted research efforts in this area. Indeed, treatments for these conditions have largely been supportive, but there are several emerging ones targeting the underlying physiology, offering great potential.
Therefore, major new efforts are needed to increase the body of knowledge on this topic. We seek contributions aimed at identifying known or novel disease-associated variants, advances in related technologies crucial for accurate diagnosis, and the discovery and repositioning of new drugs, essential for finding treatments for currently incurable diseases and improving existing, limited therapies.
Your expertise and ideas will greatly enrich this Special Issue, promoting advances in the diagnosis and treatment of rare neurogenetic diseases and establishing a state-of-the-art overview of this vital area of clinical and applied research.
Prof. Dr. Mariarosa Anna Beatrice Melone
Guest Editor
Manuscript Submission Information
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Keywords
- genetic disorders
- rare diseases
- diagnosis and therapies
- disease-associated variants
- precision medicine
- personalized therapy
- drug discovery
- drug repositioning
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