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New Sights: Genetic Advances and Challenges in Rare Diseases

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: 31 May 2024 | Viewed by 3280

Special Issue Editor

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Guest Editor
Centro de Investigaciones Biológicas, Margarita Salas (CSIC), 28040 Madrid, Spain
Interests: genetics; TGF-β; vascular disease
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

It is a pleasure to introduce this Special Issue.  

Rare diseases (RDs) have lower incidence rates. Typically, RDs are mostly underdiagnosed, with a few active studies, and lack therapeutic options. Eighty percent of the RDs are genetic. RDs cover a broad range of disorders, with more than 7000 different ones. Around 6–8% of the world population is affected by some RD. The advent of Genetics Advances has sped up early diagnosis and family screening processes, contributing to appropriate patient follow-ups and preventing undesired outcomes. Thus, Genetics is a major tool for diagnosis and clinical prevention. Genetic Advances empower researchers to apply a personalized approach to the diagnosis and molecular basis of these diseases. Knowing that the genes/pathways are altered, we can search for targeted therapies in a precise/personalized manner. Some undiagnosed diseases need Genetic Advances to identify the cause of the pathology. Rare tumors have also a genetic basis. This Special Issue aims to highlight the current Genetic Advances and how they are improving the diagnosis of RD and the molecular basis of diseases to search for tailored therapies. Thus, in vitro and in vivo results on therapeutic targets will be also a highly appreciated.

Dr. Luisa M. Botella
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 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

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.


  • rare diseases
  • cavernomas
  • NGS
  • exome/genome
  • epigenome, undiagnosed rare diseases
  • phenotype–genotype correlations
  • transcription regulation
  • biomarkers
  • personalized medicine, precision medicine

Published Papers (1 paper)

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14 pages, 4323 KiB  
Molecular and Cellular Characterization of Primary Endothelial Cells from a Familial Cavernomatosis Patient
by Laura Lorente-Herraiz, Angel M. Cuesta, Jaime Granado, Lucía Recio-Poveda, Luisa-María Botella and Virginia Albiñana
Int. J. Mol. Sci. 2024, 25(7), 3952; https://doi.org/10.3390/ijms25073952 - 2 Apr 2024
Viewed by 3081
Cerebral cavernous malformation (CCM) or familial cavernomatosis is a rare, autosomal dominant, inherited disease characterized by the presence of vascular malformations consisting of blood vessels with an abnormal structure in the form of clusters. Based on the altered gene (CCM1/Krit1, CCM2 [...] Read more.
Cerebral cavernous malformation (CCM) or familial cavernomatosis is a rare, autosomal dominant, inherited disease characterized by the presence of vascular malformations consisting of blood vessels with an abnormal structure in the form of clusters. Based on the altered gene (CCM1/Krit1, CCM2, CCM3) and its origin (spontaneous or familial), different types of this disease can be found. In this work we have isolated and cultivated primary endothelial cells (ECs) from peripheral blood of a type 1 CCM patient. Differential functional and gene expression profiles of these cells were analyzed and compared to primary ECs from a healthy donor. The mutation of the familial index case consisted of a heterozygous point mutation in the position +1 splicing consensus between exons 15 and 16, causing failure in RNA processing and in the final protein. Furthermore, gene expression analysis by quantitative PCR revealed a decreased expression of genes involved in intercellular junction formation, angiogenesis, and vascular homeostasis. Cell biology analysis showed that CCM1 ECs were impaired in angiogenesis and cell migration. Taken together, the results obtained suggest that the alterations found in CCM1 ECs are already present in the heterozygous condition, suffering from vascular impairment and somewhat predisposed to vascular damage. Full article
(This article belongs to the Special Issue New Sights: Genetic Advances and Challenges in Rare Diseases)
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