Inherited retinal degenerations are a diverse group of genetic disorders that result in progressive vision loss. Advances in ...

Objectives Treatment of rheumatoid arthritis (RA) relies on immunomodulatory drugs that can compromise immunity, inducing secondary immunodeficiency (SID). However, features of SID, such as ...

In genetics, one harmful variant can be enough to cause disease—but two can make it far more severe. One notable example is KJ, an infant diagnosed with a rare urea cycle disorder with a grim ...

About The Study: This study identified 5.05% of individuals carrying pathogenic or likely pathogenic variants, suggesting a higher-than-expected prevalence of key cancer susceptibility genes in a ...

Microsatellite Peak Shifts in Polymerase Chain Reaction-Based Fragment Length Data Correlate With Microsatellite Instability Degree and Vary With Mismatch Repair Gene Defects and Tumor Size This was a ...

Base editing and prime editing can be used to permanently fix pathogenic variants but require the development of a distinct drug to correct each pathogenic variant. Suppressor transfer RNAs (sup-tRNAs ...

Leveraging high variant allele frequencies (VAF) of DNA damage repair (DDR) mutations (muts) in liquid biopsy (LBx) as a surrogate for germline testing: Implications for precision medicine. Estimated ...

Three cases suggest some clinicians lack understanding of relatively common autosomal recessive disorders and are ...