Neurogenetics: Applications of Precision Medicine and Gene Therapy for Rare Neurogenetic Disorders
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Neurobiology".
Deadline for manuscript submissions: 20 July 2025 | Viewed by 1157
Special Issue Editor
Interests: neuroscience; multiple sclerosis; experimental autoimmune encephalomyelitis; intrathecal transplantation; stem cell differentiation; immunohistopathology; in situ hybridization; electron microscopy
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Special Issue Information
Dear Colleagues,
Rare neurogenetic disorders represent a profound challenge in neurology and are characterized by complexity, heterogeneity, and low prevalence. These diseases, stemming from diverse hereditary mechanisms—including autosomal dominant, autosomal recessive, X-linked, and mitochondrial inheritance—often manifest with severe, life-threatening, or chronically debilitating symptoms. Despite affecting only a small proportion of the population, they collectively impose a significant burden, with many conditions presenting at birth or during childhood.
Advances in precision medicine and gene therapy offer promising avenues for addressing these disorders. By leveraging the power of molecular genetics, researchers are uncovering pathways toward targeted, personalized interventions. This Special Issue focuses on the intersection of precision medicine, neurogenetics, and gene therapy, with an emphasis on their transformative potential in diagnosing, managing, and treating rare inherited disorders of the nervous system.
Topics of interest include innovations in gene-editing technologies, the use of biomarkers for tailored interventions, and the development of therapies targeting specific rare disorders such as mitochondrial diseases, hereditary neuropathies, motor neuron diseases, and inherited dementias. We invite submissions that explore the molecular underpinnings of these conditions and highlight breakthroughs in personalized treatments designed to improve patient outcomes.
Dr. Paschalis Theotokis
Guest Editor
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Keywords
- precision medicine
- gene therapy
- neurogenetics
- rare monogenic diseases
- inherited nervous system disorders
- mitochondrial diseases (e.g., LHON, MELAS)
- lysosomal storage disorders (e.g., Tay–Sachs, Gaucher)
- hereditary neuropathies (e.g., CMT, hATTR)
- motor neuron diseases (e.g., SMA, ALS)
- spinocerebellar ataxias (e.g., SCA)
- biomarkers in neurology
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