Molecular Basis and Latest Therapeutic Strategies for Genetic Diseases in Children
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".
Deadline for manuscript submissions: 26 February 2025 | Viewed by 78
Special Issue Editors
Interests: overgrowth syndromes; Beckwith–Wiedemann syndrome; Beckwith–Wiedemann spectrum; epigenetics; mosaicism; cancer predisposition syndromes; pediatric endocrinology; genetic diseases of endocrinological interest; congenital inborn errors of metabolism; infantile endocrine-metabolic pathology; thyroid nodule in pediatric age; hyperthyotropinemia; isolated and syndromic subclinical hypothyroidism; congenital hypothyroidism; syndromic childhood thyroid disorders; autoimmune thyroid diseases; application of the ultrasonic methodology to the evaluation of the bone condition in pediatrics and pediatric endocrinology; hyperphenylalaninemia; cryptorchidism; fertility; genetic obesity; Noonan syndrome
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Special Issue Information
Dear Colleagues,
Decades ago, there were few treatment options for children with rare genetic diseases; they were mostly supportive, and the few therapies were available for selected metabolic diseases, mostly based on dietary restriction or vitamin supplementation. The breakthrough came with enzyme replacement therapies (ERTs), which helped manage metabolic disorders like Gaucher and Pompe disease by replacing missing enzymes. While not a cure, ERTs marked a new hope for managing these conditions.
Since then, advances like gene therapy and CRISPR-Cas9 gene editing have opened the door to treating diseases at their genetic root, offering new possibilities for conditions like cystic fibrosis and spinal muscular atrophy (SMA). Another promising approach is RNA interference (RNAi), which can silence harmful genes to prevent the production of defective proteins. Researchers are also exploring drug repurposing, using existing drugs to treat genetic diseases, and small molecule therapies that can stabilize or enhance the function of faulty proteins, as seen in cystic fibrosis treatments. These revolutionary approaches have significantly improved outcomes for affected children, marking a new era in pediatric care.
While these advances are promising, challenges remain—especially for diseases affecting the brain or involving diverse mutations. However, with personalized approaches and early genetic screening, the future of treatment for genetic disorders is becoming increasingly hopeful.
This Special Issue focuses on the “Molecular Basis and Latest Therapeutic Strategies for Genetic Diseases in Children” and welcomes submissions on topics related to advancements in these therapies and cutting-edge treatments that are making their way into clinical practice. We warmly invite you to submit original research papers and reviews to contribute to this expanding field.
Dr. Alessandro Mussa
Dr. Chiara Leoni
Guest Editors
Manuscript Submission Information
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Keywords
- rare diseases
- genetic disease
- gene therapy
- drug development
- drug repurposing
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