fragile X syndrome Invitae Aims to Aid 'Diagnostic Odyssey' With New Neurodevelopmental Genetic Test Suite Premium The package comprises a battery of genetic tests to detect an array of developmental delays, intellectual disabilities, and autism spectrum disorders. Repeat Expansion Disease Diagnosis From Targeted Long Reads Shows Potential for Clinical Use Premium Australian researchers have developed a nanopore sequencing test that can detect more than 50 neurological and neuromuscular diseases caused by STR expansions. Small Portion of Individuals With Autism Undergo Recommended Clinical Genetic Testing Individuals with autism spectrum disorder who were younger or with a more severe condition were more likely to undergo genetic testing, a new analysis has found. DNA Methylation Mapping in Genetic Syndromes Leads to Disease-Specific Episignatures Researchers identified 34 episignatures that could be used for diagnostic testing and the interpretation of ambiguous genetic test results. Asuragen Fragile X Diagnostic Test Gets FDA Authorization The firm's AmplideX Fragile X Dx and Carrier Screen Kit is intended to help diagnose fragile X syndrome and assess parental risk of having a child with the syndrome. Apr 1, 2019 First Epigenetic Signature Test for Inherited Disorders to Launch in the US, Europe Premium Nov 27, 2018 Systematic CRISPR-Cas9 Analysis Leads to Development of Gene Editing Prediction Tool Oct 22, 2018 Asuragen, RTI Collaborate on Fragile X Syndrome Testing Feb 15, 2018 DNA Methylation Editing Rescues Neurons in Fragile X Syndrome Nov 21, 2017 Illumina-Developed Software Helps Find Repeat Expansions to Aid Disease Detection Premium Oct 27, 2017 Australian Study Highlights Carrier Screening Impacts in Reproductive Context Jul 20, 2017 Rice U Team Debuts Modular Probe Method to Detect Hypervariable, Long, or Repetitive DNA Sequences Premium Feb 21, 2017 Asuragen to Develop IVD Kits on Thermo Fisher Scientific's CE Platform Feb 2, 2017 North Carolina Looks to Expand Newborn Screening for Severe Genetic Conditions Premium Dec 12, 2016 Asuragen Research Correlates FMR1 Methylation, Symptoms in Fragile X-Associated Motor Disorder Premium Sep 9, 2016 Ontario Hospital Moves Toward Clinical Use of Methylation Array Fragile X Screening Test Premium Aug 12, 2016 New Fragile X Assays From NIH Could Reduce Testing Cost, Improve Sensitivity Premium Apr 19, 2016 Fragile X Testing May Benefit From Direct Sequencing, Methylation Analysis Premium Sep 24, 2014 Emory Wins $8M Grant for Sequencing Study of FMR1 Gene, Fragile X Variations Sep 17, 2014 Asuragen PCR Assay Provides More Evidence of Risk Factors for Mutation Expansion in Fragile X Premium Jul 10, 2014 New York State Issues Permit to Asuragen to Offer Fragile X, Thyroid Cancer MDx May 29, 2014 Dx Focus: Meridian Illumigene Assays; Biofactory FMR1 Identification Kit Premium Mar 21, 2013 Asuragen Presents Data Backing New Molecular Test as Better Predictor of Fragile X Risk in Offspring Premium Oct 23, 2012 Team Explores PacBio for Fragile X Sequencing; Sees Potential for Diagnostics, Newborn Screening Premium Jan 19, 2012 Finnish Team Develops Multiple Heat Pulse PCR Method for Amplification of GC-Rich Regions Premium Load More Breaking News SARS-CoV-2 Variants of Concerns Evolved to Modify Host Immune Response, Multiomics Study Shows People in the News at GA4GH, Mercy BioAnalytics, Deepcell, One Biosciences New Products Posted to GenomeWeb: Clinical Microbiomics, Integra Biosciences, DNAstack, Bruker Angolan Namib Desert Population Analysis Uncovers New Ancestry Group With Deep Divergence Cedars-Sinai Sets Up $25M Single Cell Precision Medicine Center The Scan Positive Framing of Genetic Studies Can Spark Mistrust Among Underrepresented Groups Researchers in Human Genetics and Genomics Advances report that how researchers describe genomic studies may alienate potential participants. Small Study of Gene Editing to Treat Sickle Cell Disease In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms. Gut Microbiome Changes Appear in Infants Before They Develop Eczema, Study Finds Researchers report in mSystems that infants experienced an enrichment in Clostridium sensu stricto 1 and Finegoldia and a depletion of Bacteroides before developing eczema. Acute Myeloid Leukemia Treatment Specificity Enhanced With Stem Cell Editing A study in Nature suggests epitope editing in donor stem cells prior to bone marrow transplants can stave off toxicity when targeting acute myeloid leukemia with immunotherapy.