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 604
Special Issue Editor
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
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Keywords
- rare diseases
- cavernomas
- NGS
- exome/genome
- epigenome, undiagnosed rare diseases
- phenotype–genotype correlations
- transcription regulation
- biomarkers
- personalized medicine, precision medicine
