The same genetic variant found in different individuals can cause a range of diverse
phenotypes, from no discernible clinical phenotype to severe disease, even among related …

Genetic diseases seriously threaten human health and have always been one of the
refractory conditions facing humanity. Currently, gene therapy drugs such as siRNA, shRNA …

Recent analysis of genome sequences has identified individuals that are healthy despite
carrying severe disease‐associated mutations. A possible explanation is that these …

Highlights•Phenotypic expression of a specific mutation can vary across individuals of the
same species.•Monogenic variants might display a continuous expressivity spectrum in …

Parkinson's disease (PD) is the second most common neurodegenerative disorder, globally
affecting men and women at an exponentially growing rate, with currently no cure. Disease …

Timothy syndrome 1 (TS1) is a rare genetic disorder characterized by multisystem
abnormalities including QT prolongation, congenital heart defects, facial dysmorphism …

The causative mutation for Huntington disease (HD), an expanded trinucleotide repeat
sequence in the first exon of the huntingtin gene (HTT) is naturally polymorphic and …

Simple Summary Even though in monogenic diseases a mutation will lead to a “classic”
manifestation, many disorders exhibit great clinical variability that could be due to modifying …

Neurodegenerative diseases constitute a large proportion of disorders in elderly, majority
being sporadic in occurrence with ∼∼ 5–10% familial. A strong genetic component …

Huntington disease (HD) is a hereditary neurodegenerative disorder caused by an
expanded cytosine–adenine–guanine triplet repeat in the huntingtin gene. The current …