Study identifies novel form of Amyotrophic Lateral Sclerosis (ALS); the relatively early-onset & slow-progressing phenotype was associated with mutations in the SPTCL1 gene, thought to cause excess sphingolipid production: https://t.co/T3LO7iLEPC #alsawareness #ALS #neuromuscular

#bigdata #bigdataanalysis #genomics #genetics #machinelearning #WES #WGS #personalizedmedicine #personalisedmedicine #exome #genome #genomicmedicine #clinicalresearch

The 4th webinar in our series is on Big Data in Genomics featuring Shareef Nahas...

Study used phenotypic data from thousands of patient electronic health records to train an algorithm to predict which patients may require genetic testing: https://t.co/YqV5va5OfY #AI #machinelearning #algorithm #genetictesting #moleculartesting #genetics #variant #mutation

The #CTGA continues to grow. Here are our latest numbers of disease, gene, and...

Watch our 3rd #CAGSwebinar focusing on an overview of Gene Therapy and its applications in neuromuscular disorders: https://t.co/MapJGeVFkK Our next webinar in the series is on "Big Data in Genomics" (June 30th); register here: https://t.co/jIjJudgRHY #CME #genetics #genomics

The Telomere-to-Telomere consortium has completed the human genome sequence! The remaining 8% of missing genetic data was added, capping the full sequence at 3.055Bbp! Read the full article here: https://t.co/jdMaOUmAFT #genomesequencing #humangenome #genetics #genomics

Did you attend our last webinar on Gene Therapy? Here's the link to download...

Genomic data from the Arab World is poorly represented among population groups; encompassing ~0.01% of the GWAS catalogue, & ~0.2% of total genomes hosted by gnomAD. The Emirati Genome Program aims to address the lack of data in the region: https://t.co/SLPwAD7BII #genomics

#continuingmedicaleducation #genetics #genomics #genetherapy #webinarsession #webinar #CAGSwebinar #neuromuscular #NMD #neuromusculardisorder #neuromusculardisease #Duchenne #SMA #spinalmuscularatrophy #Adenoassociatedvirus #AAV #vector