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Nanodiagnostics and Nanodelivery Applications in Genetic Alterations

[ Vol. 24 , Issue. 15 ]


Maria Sofia Falzarano, Cristina Flesia, Roberta Cavalli, Caterina Guiot and Alessandra Ferlini*   Pages 1717 - 1726 ( 10 )


Background: Genetic alterations cause Hereditary Diseases (HDs) with a wide range of incidences. Some, like cystic fibrosis, occur frequently (1/1,000 newborns), whilst others, such as Pompe disease and other metabolic disorders are very rare (1/100,000 newborns). They are well under the threshold of 1/3,000, denoted by the European Community as Rare Diseases (RDs). Genetic alterations are also associated with multifactorial disorders like diabetes, and underline both somatic and germline mutations in cancer.

Nowadays, thanks to the interventions of the European Union and the American National Health Institute as well as others, Hds are under an international lense, which has stimulated discussions and research targeting gene identification, prenatal diagnosis and care optimization leading to the development of new treatment options.

Nanomedicine is paving the way toward some highly appealing clinical and research avenues in HDs. Nanotechnologies lend themselves to many aspects in human healthcare, such as in vitro diagnostics (nanobiosensors and nanoplatforms), drug delivery (nanovectors), drug monitoring (nanosensors) and artificial organs to study the genome variant meaning (nanostructures).

Methods and Results: With a significant reduction in costs and simplified healthcare delivery, nanodiagnostics can potentially provide the tools to diagnose diseases at an early stage with precision. In vitro nanodiagnostics are already diagnosing RDs, with many nanodevices having been successfully introduced over the last few decades.

Nanovectors represent an emerging approach in drug delivery and treatment for several diseases such as cancers, infectious diseases, cardiovascular disorders and neurological pathologies.

Artificial tissues have valuable implications in replacing compromised organs, thus offering unique opportunities to explore pathogenic mechanisms as well as new drug targets in a personalized context.

Conclusion: This article outlines and discusses the recent progress in nanotechnology and its potential applications in HDs. It is a pivotal field for research and innovation in healthcare, with emphasis on diagnostics, disease monitoring, biomarker assaying and drug delivery. We underlined the nanomethod’s capacity to identify genetic alterations and the follow up of important aspects of the disease course, including therapies. We extensively described the new field of nanodelivery for experimental drugs, focusing on new genetic therapies and their implications in hereditary disorders. We also detailed innovative tools as artificial tissues based on nanomatrices and their use to identify or study genetic alterations.


Nanodiagnostics, nanovectors, nanodelivery, Hereditary Diseases (HDs), genetic alterations, nanotechnology.


Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, University of Torvergata, Rome, Dipartimento di Scienza e Tecnologia del Farmaco, University of Turin, Turin, Dipartimento di Neuroscienze , Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara

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