Genomic Reanalysis of a Pan-European Rare-Disease Resource Yields New Diagnoses

Medicine, Life Sciences, Genetics,
rare diseases   genomic reanalysis   European collaboration   diagnostic yield   genetic variants  

European Genomic Reanalysis of Rare Diseases: New Diagnoses and Future Blueprint Academic Background Rare diseases are defined as conditions affecting a very small proportion of the population, with the European Union setting the threshold at fewer than 50 individuals per 100,000. Despite the vast diversity of rare diseases (over 6,000 types), more...

Rapid and Scalable Personalized ASO Screening in Patient-Derived Organoids

Medicine, Life Sciences, Cell Biology, Biochemistry, Bioengineering, Genetics,
personalized therapeutics   antisense oligonucleotides   rare diseases   organoid models   gene therapy   Duchenne muscular dystrophy   stem cells  

Establishment of a Personalized Antisense Oligonucleotide (ASO) Screening Platform Based on Patient-Derived Organoids Academic Background In recent years, with the rapid development of genome sequencing technologies, an increasing number of rare genetic diseases have been found to be associated with specific gene mutations. Antisense oligonucleotid...