intellectual disability Orphan Gene Linked to Neurodevelopmental Disorder Characterized by Hearing Loss Through a sequencing screen of patients, researchers identified biallelic variants in SPATA5L1 that were associated with hearing loss, intellectual disability, and epilepsy. ACMG Recommends Sequencing as Test for Children With Intellectual Disability, Congenital Anomalies An American College of Medical Genetics and Genomics working group conducted a systematic review of the literature to develop its recommendation. First Epigenetic Signature Test for Inherited Disorders to Launch in the US, Europe Premium The clinical genome-wide DNA methylation test can diagnose genetic diseases that are missed by exome or genome sequencing and evaluate variants of unknown significance. Autism, Developmental Delay Gene Candidates Compiled From De Novo Variant, CNV Data Researchers found 253 candidate disease genes, based on 10,927 exomes from patients with autism spectrum disorder, developmental delay, or intellectual disability. Epigenetic Signatures Show Promise for Diagnosing Neurodevelopmental Disorders Premium In the long run, genome-wide DNA methylation profiling could be useful in diagnosing constitutional disorders as well as cancer. Jan 12, 2018 GeneDx, Radboud UMC Collaborate on Research Into Neurodevelopmental Disorders Jul 6, 2017 Single Gene Mutations Implicated in New Intellectual Disability Syndrome Feb 13, 2017 Analyses Narrow in on ASD, Neurodevelopment-Related De Novo Mutations Sep 22, 2016 Autism Data Shows Evidence of Human-Specific Regulatory Sequences Affecting Brain-Related Functions Aug 2, 2016 New De Novo Gene Mutations Implicated in Intellectual Disability Jul 19, 2016 Clinical Genomics Approach Offers Increased Diagnostic Yield for Intellectual Disability May 26, 2016 Exome Sequencing Prompts Treatment Changes for Neurometabolic Disorders in 44 Percent of Cases Feb 5, 2016 Dutch Study Finds Exome Sequencing Could Cut Costs for Dx in Children With Intellectual Disability Sep 3, 2015 Exome Sequencing Uncovers Monogenic Condition Marked By Speech Problems, Intellectual Delay Jun 10, 2015 Congenica Announces First Clinical Customer for Sapientia Platform Premium May 26, 2015 Estonian Population Profiling Reveals Recurrent, Rare CNVs Linked to Intellectual Ability Jun 25, 2014 Bioinn to Distribute Courtagen's NGS Tests in Taiwan Apr 29, 2014 Exome Sequencing Study Identifies Chromatin Remodeling-related Mutations in Schizophrenia Oct 4, 2012 Dutch Team IDs New Intellectual Disability Genes in Diagnostic Exome Sequencing Pilot Oct 3, 2012 Radboud University Aims to Expand Diagnostic Exome Sequencing to More Than 1,000 Patients Next Year Premium Oct 19, 2011 Dutch Study Aims to Demonstrate Cost-Effectiveness of Reimbursing for Exome Sequencing Dx Premium Jan 4, 2011 Next-Gen Sequencing Makes Inroads into Clinical Applications in 2010 Premium May 25, 2010 Emory Genetics Lab Launches Sequencing-Based Genetic Testing for Three Congenital Disorders Premium Mar 2, 2010 Athena Licenses Genetic Test for Intellectual Disability Breaking News People in the News at Pacific Biosciences, Metabolon, NeoGenomics, More New Products Posted to GenomeWeb: Tethis, Invitae, PerkinElmer, More In Brief This Week: Thermo Fisher Scientific, Bruker, Quantum-Si, BioMérieux, More Luminex Obtains CE Marking for MDx Panel to Detect Flu A/B, RSV, COVID-19 Palmetto Finalizes Positive LCD for Prostate Cancer Risk Tests Gene Expression, Histology Reveal Clues for Targeted Rheumatoid Arthritis Treatment The Scan Call for a Different Tack Experts weigh the value of recent experiments testing genetically modified pig kidneys using brain-dead individuals, according to Nature News. Wastewater Warning The New York Times reports that wastewater surveillance in some parts of the US point to a possible surge. Can't Get in the Program Due to the Northern Ireland protocol dispute, the European Union is preventing UK researchers from joining the Horizon Europe research program, the Times of London reports. Science Paper on Spatial-Controlled Genome Editing In Science this week: approach to enable a CRISPR-Cas13a-based system to be used as a cancer therapy.