Molecular Genetics of Assay Technology
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: closed (28 February 2023) | Viewed by 4204
Special Issue Editor
Interests: aging; dementia; Alzheimer; FTD; progranulin; CD33; TREM2; SIGLEC genes; CRISPR-Cas9; iPSCs Parkinson; neuroinflammation; personalized medicine
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Advancements in molecular genetics have increased both diagnostic and predictive capabilities in healthcare.
Protein misfolding, accumulation, and aggregation are common features in many neurological disorders, including Alzheimer’s disease (AD) and Parkinson disease (PD). Understanding the assays to detect the above as well as how they may improve over time is critical for translational research.
The general principle of proteinopathies is that they change conformation, lose their normal function, and gain toxicity, yet there is no structural understanding of how altered protein conformations or aggregates trigger neuronal dysfunction. IPSCs generate from patients using reprogramming technology may help this understanding. Next-generation sequencing (NGS), droplet digital PCR, and genome-wide sequencing have advanced the field of molecular diagnostics for cell-free nucleic acids analyses.
Chaperones are the leading candidates in the search for factors affecting conformational changes in folding and remodeling the essential folding scene. Ascertaining and validating reliable in vitro and in vivo assays to identify a pool of biological targets will help to develop compounds to interact with these targets and analyze them for their potential for target druggability. Data defining druggable targets and tool compounds are the basis for drug development and personalized medicine. Moreover, human-relevant models for complex biology based on organ-on-chip models enable researchers to more closely emulate human biology by combining human cell sourcing, an organ-specific microenvironment, and tissue-relevant mechanical forces.
Dr. Emilia Vitale
Guest Editor
Manuscript Submission Information
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Keywords
- IPSC next-generation sequencing (NGS)
- droplet digital PCR
- target druggability
- organ-on-a-chip
- translational medicine
