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Latest Advances in Targeted Molecular Therapies for Genetic Disease

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: 31 July 2026 | Viewed by 644

Editor


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Guest Editor
Medical Genetics Department, “Carol Davila” University of Medicine and Pharmacy, 020021 Bucharest, Romania
Interests: prenatal; sequencing; breast cancer; ovarian cancer; homologous recombination deficiency; Romanian cohort; genetics; biomarkers; diagnosis; therapies; personalized medicine

Special Issue Information

Dear Colleagues,

This Special Issue aims to provide a comprehensive and critical overview of the latest advances in targeted molecular therapies for genetic diseases, highlighting their translational relevance and clinical impact. It brings together state-of-the-art research and authoritative reviews that explore innovative therapeutic strategies designed to address the underlying molecular and genetic mechanisms of inherited disorders. By directly addressing disease-causing molecular defects, these approaches represent a paradigm shift from symptomatic management toward mechanism-based intervention in genetic disorders.

The scope of the Issue encompasses both rare and common genetic diseases, highlighting how advances in molecular biology, genomics, and bioinformatics have accelerated the development of personalized and mechanism-driven treatments. Targeted molecular therapies seek to elucidate and therapeutically exploit the genetic and biochemical alterations underlying inherited diseases, with the overarching goal of developing more precise, effective, and durable treatment strategies.

Topics of interest include, but are not limited to, gene replacement and gene-editing strategies; RNA-based and antisense therapies; small-molecule and biologic agents targeting pathogenic molecular pathways; genomic and epigenomic profiling of genetic diseases; biomarkers for diagnosis, prognosis, and therapeutic efficacy; preclinical and clinical studies of precision therapies; and ethical, regulatory, and implementation challenges associated with advanced molecular interventions.

Dr. Viorica-Elena Rădoi
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

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Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • genetic diseases
  • precision medicine
  • gene editing
  • RNA-based therapeutics
  • genomic profiling
  • translational research
 

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Published Papers (1 paper)

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Research

17 pages, 4136 KB  
Article
Digital PCR Quantification of a Circulating RBP3 and CRX RNA Signature Establishes a Liquid Biopsy Framework for Precision Monitoring of Retinoblastoma
by Thais Biude Mendes, Indhira Dias Oliveira, Francine Tesser Gamba, Fernanda Teresa Lima, Bruna Fernanda Silva Cardoso Morales, Carla Renata Pacheco Donato Macedo, Luiz Fernando Teixeira and Silvia Regina Caminada de Toledo
Int. J. Mol. Sci. 2026, 27(10), 4177; https://doi.org/10.3390/ijms27104177 - 8 May 2026
Viewed by 396
Abstract
Retinoblastoma (RB) is the most common intraocular malignancy of childhood, yet molecular assessment of disease dissemination and minimal residual disease (MRD) remains challenging due to the contraindication of intraocular biopsy. Here, we evaluate the feasibility of cell-free RNA (cfRNA)- and circulating tumor cell [...] Read more.
Retinoblastoma (RB) is the most common intraocular malignancy of childhood, yet molecular assessment of disease dissemination and minimal residual disease (MRD) remains challenging due to the contraindication of intraocular biopsy. Here, we evaluate the feasibility of cell-free RNA (cfRNA)- and circulating tumor cell RNA (ctcRNA)-based liquid biopsy for the sensitive detection of disseminated retinoblastoma using digital PCR (dPCR) targeting the retina-specific markers CRX and RBP3. We analyzed 433 bone marrow (BM), peripheral blood (PB) and cerebrospinal fluid (CSF) samples collected longitudinally from 50 patients with RB. dPCR assays demonstrated high analytical sensitivity. cfRNA detection showed complete sensitivity and negative predictive value in bone marrow compared with myelogram analysis, frequently identifying molecular positivity in cytologically negative samples. In cerebrospinal fluid, cfRNA detection was highly specific but less sensitive, reflecting compartment-specific biological constraints. Longitudinal analysis revealed that changes in CRX and RBP3 ctcRNA levels closely tracked treatment response, preceded cytological evidence of bone marrow involvement in several cases, and identified molecular persistence or re-emergence during follow-up, including after hematopoietic stem cell transplantation. Together, these findings demonstrate that cfRNA- and ctcRNA-based liquid biopsy using CRX and RBP3 enables sensitive and dynamic detection of disseminated retinoblastoma, particularly in bone marrow, and supports its potential utility for MRD monitoring. Longitudinal patient analyses will be required to define prognostic thresholds and establish the clinical role of this approach in risk stratification and long-term surveillance. Full article
(This article belongs to the Special Issue Latest Advances in Targeted Molecular Therapies for Genetic Disease)
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