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.