The Phase 2b LUMA study of BIIB122 in early-stage Parkinson’s disease did not meet its primary or secondary endpoints Based on data from the Phase 2b LUMA study, Biogen and Denali will discontinue ...

Novel and known TRPC6 variants demonstrated marked phenotypic heterogeneity without clear genotype-phenotype correlation.

RBM20 truncating variants ( RBM20 tvs) appear to contribute to arrhythmogenic dilated cardiomyopathy (DCM) but with ...

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 ...

Please provide your email address to receive an email when new articles are posted on . Prevalence of pathogenic variants in cancer-susceptibility genes appeared independent of personal or family ...

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 ...

The partners will stop developing BIIB122 in an all-comer population, but Denali will keep evaluating it in those with LRRK2 pathogenic variants.

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 ...

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 ...