The #CTGA #database continues to grow. We are currently focused on adding...

Study uncovers novel genetic association with a fatal form of pediatric liver disease. Loss-of-function variants in the FOCAD gene was associated with early-onset liver cirrhosis. Read about the study here: https://t.co/4vtFnqsmjl #liver #cirrhosis #genetics #mutations #variant

Recent research into Cystic Fibrosis #treatment utilizes antisense oligonucleotides to circumvent nonsense-mediated mRNA decay and produce partially-functioning CFTR protein: https://t.co/r5xwq2K3QV Check out the main article on Nature: https://t.co/W5hHb7exl0 #cysticfibrosis

The CTGA database is continuously being updated. We are currently focused on...

Study utilizes UK biobank genetic and health data to analyze European ancestry. Analysis of shared genomes revealed three distinct branches of genetic background, from southern, central-eastern, and northwestern Europe: https://t.co/j8F2B9qKZT #population #populationgenetics

Watch the 7th CAGS webianr on the topic of lysosomal storage disorders The webinar was sponsored by @sanofi and supported by @DHA_Dubai, @mohapuae @UaeEma, and @EHSUAE. https://t.co/tkf9nkNUiI #lysosome #geneticdisorder #geneticdisease #genetics #lysosomes #webinar

Catch our latest webinar on the genetics of Lysosomal Storage Disorders...

The CTGA database is continuously being updated. We are currently focused on...

Suppressing the gene ZNF117 was shown to trigger mature #cancer cell development. This finding opens doors to improved therapy, as triggering #Glioblastoma #stemcell differentiation into mature lineages makes them more susceptible to #chemotherapy: https://t.co/1iVPuJWakb #gene

A recent study expanded and reviewed the molecular spectrum of Usher Syndrome in Lebanon. Six variants including four novel variants in four associated genes were identified in eight families. https://t.co/ujOxkLdXOT #Lebanon #genetics #UsherSyndrome #Usher #genes #raredisease