Approximately 10% of all pathological mutations are nonsense mutations that are
responsible for several severe genetic diseases for which no treatment regimens are …

Rare diseases affect over 400 million people worldwide and less than 5% of rare diseases
have an approved treatment. Fortunately, the number of underlying disease etiologies is far …

Purpose: We conducted research on CDK4/6 inhibitors (CDK4/6i) simultaneously in the
preclinical and clinical spaces to gain a deeper understanding of how senescence …

Methylmalonic Acidemia (MMA) is a heterogenous group of inborn errors of metabolism
caused by a defect in the methylmalonyl‐CoA mutase (MMUT) enzyme or the synthesis and …

Fibrodysplasia ossificans progressiva (FOP) is an enigmatic, ultra-rare genetic disorder
characterized by progressive heterotopic ossification, wherein soft connective tissues …

Abstract The Center for Drug Evaluation and Research (CDER) and the Center for Biologics
Evaluation and Research (CBER) of the US Food and Drug Administration (FDA) have been …

Ferroptosis is an iron-dependent lipid peroxidative form of cell death that is distinct from
apoptosis and necrosis. ALOX15, also known as arachidonic acid 15-lipoxygenase …

Fragile X syndrome (FXS), the most common inherited cause of intellectual disability and the
single-gene cause of autism, is caused by decreased expression of the fragile X messenger …

Artificial intelligence (AI) has made significant progress in addressing the specific obstacles
related to post-cancer physical rehabilitation. This article examines AI technologies such as …

Bayesian strategies for planning and analyzing clinical trials have become a viable choice,
especially in rare diseases where drug development faces many challenges and …