FMR1

PacBio Announces PureTarget™ Repeat Expansion Panel, Expanding its Portfolio of End-to-End Clinical Research Solutions

Retrieved on: 
Tuesday, March 12, 2024
Gene, Methylation, FTD, FMR1, ALS, Associate, Myotonic dystrophy, Abraxis BioScience, Huntington's disease, DNA, Apple IIe, Ataxia, Laboratory, University College London, Frontotemporal dementia, DSM-IV codes, Mosaic, High fidelity, Instability

MENLO PARK, Calif., March 12, 2024 /PRNewswire/ -- PacBio (NASDAQ: PACB), a leading developer of high-quality, highly accurate sequencing solutions, today announced the PureTarget repeat expansion panel, a new solution designed to enable the comprehensive analysis of 20 genes associated with serious neurological disorders, including challenging-to-sequence genes with tandem repeat expansions. The new long-read workflow can minimize iterative analysis using legacy technology, and reduce the time needed to identify disease-causing variants and associated methylation signatures.

Key Points: 
  • "This product uses a differentiated method to do targeted long-read sequencing of DNA in its pure state.
  • Continuing the commitment to deliver comprehensive solutions, PacBio has prioritized delivering end-to-end workflows with their latest products.
  • The PureTarget Repeat Expansion Panel workflow utilizes the recently announced Nanobind PanDNA kit , ensuring robust results optimized for Revio and Sequel IIe users.
  • Customers can multiplex up to 48 samples on the PacBio Revio sequencing system and 24 samples on the PacBio Sequel IIe sequencing system.

ASURAGEN TO PRESENT NOVEL CLINICAL TESTING DATA AT AMP 2023 CONFERENCE

Retrieved on: 
Thursday, November 2, 2023
SMN2, Medical Affairs Bureau, Real-time, IVD, AMP, Bio-Techne, Doctor of Philosophy, RUO, FMR1, ESR1, SMN1, Cystic fibrosis, Frequency, Workflow, Diagnosis, BCR-ABL, Patient, Neoplasm, Targeted molecular therapy for neuroblastoma, Pharmaceutical industry, Medical imaging

MINNEAPOLIS , Nov. 2, 2023 /PRNewswire/ -- Bio-Techne Corporation (NASDAQ:TECH) today announced that Asuragen, a Bio-Techne brand, will present new data on clinical laboratory testing solutions related to cystic fibrosis variant detection, cancer monitoring, resolving conventionally inaccessible, disease-causing genes, and more at the upcoming meeting of the Association for Molecular Pathology (AMP), to be held November 14-18 in Salt Lake City, Utah. Attendees can learn about Asuragen's new products and innovations through a series of corporate workshops and poster presentations.

Key Points: 
  • Attendees can learn about Asuragen's new products and innovations through a series of corporate workshops and poster presentations.
  • "We look forward to sharing new data that reinforces our commitment to more equitable healthcare, comprehensive genetic coverage, and novel approaches to cancer monitoring and management."
  • In addition, Dr. Jordan Laser, Senior Director, Clinical and Medical Affairs for Bio-Techne's Diagnostics and Genomics Segment, will be recognized at the conference with the AMP Meritorious Service Award for his work to promote AMP as a member of the association.
  • AmplideX® to the Rescue: One easy-to-implement test workflow enabling repeat expansion resolution, copy number assessment, and highly multiplexed variant detection.

New York State Laboratory Approved for Genetic Testing Using Saliva

Retrieved on: 
Tuesday, October 17, 2023
Diagnosis, American Academy of Pediatrics, FXTAS, Fragile X syndrome, Fragile X-associated tremor/ataxia syndrome, FXS, Saliva, FMR1, Laboratory, Intellectual disability, NYSDOH, Adolescence, Fragile X-associated primary ovarian insufficiency, Genetic testing, Child, Blood, New York State Department of Health, EVP, Spectrum, Physician, Vaccine, Quadrant

SYRACUSE, N.Y., Oct. 17, 2023 /PRNewswire/ -- Quadrant Laboratories announced today that its Syracuse-based lab has been approved by the New York State Department of Health for genetic testing. This is in conjunction with the NYSDOH approval of Quadrant's Fragile X Syndrome (FXS) test, which is now available for physicians to order in all 50 states. Quadrant's FXS test uses a saliva swab as a primary collection, rather than a blood draw, and can be collected in the patient's home before getting shipped back to be tested in Quadrant's CLIA/CLEP certified clinical lab.

Key Points: 
  • SYRACUSE, N.Y., Oct. 17, 2023 /PRNewswire/ -- Quadrant Laboratories announced today that its Syracuse-based lab has been approved by the New York State Department of Health for genetic testing.
  • Dr. Funda Suer, EVP of Clinical Diagnostics and Clinical Laboratory Director for Quadrant Laboratories, said, "In both the pediatric and adolescent populations, we found it was much easier to collect saliva versus blood.
  • This genetic condition  is caused by changes in the FMR1 gene, which is responsible for creating a protein crucial in brain development.
  • Following the discovery of the association between the FMR1 gene and FXS, gene-specific testing has made identifying the condition significantly more accurate.

PureTech Awarded up to $11.4 Million from U.S. Department of Defense to Advance LYT-300 (Oral Allopregnanolone) for Fragile X-associated Tremor/Ataxia Syndrome

Retrieved on: 
Tuesday, August 1, 2023
Mental Health, Health, Clinical Trials, General Health, Pharmaceutical, Biotechnology, PRTC, LSE, Defense Health Agency, University of California, Davis, Tremor, Anxiety, University, Therapy, U.S. Department of Defense Strategy for Operating in Cyberspace, United States Department of Defense, Ageing, PureTech Health, FMR1, Research, Medicine, Development director, Element, Veteran, CNS, Dementia, Trial of the century, Science, Assistant, Intellectual disability, FXS, Fragile X syndrome, UC, Patient, Department of Defense Serum Repository, United States Army Medical Research and Development Command, Spectrum, United States Army Medical Research Institute of Infectious Diseases, MIND Institute, FXTAS, Office of the Assistant Secretary for Health, Assistant Secretary of Defense for Health Affairs, Glyph, Cannabidiol, Safety, Allopregnanolone, Pharmaceutical industry, Vaccine, Defense, Fragile

The funds will support a Phase 2 trial of LYT-300 in collaboration with the University of California, Davis (UC Davis).

Key Points: 
  • The funds will support a Phase 2 trial of LYT-300 in collaboration with the University of California, Davis (UC Davis).
  • Both conditions are the result of repeated elements in the Fragile X Messenger Ribonucleoprotein Gene 1 (FMR1) gene.
  • Opinions, interpretations, conclusions and recommendations are those of the author and are not necessarily endorsed by the Department of Defense.
  • In addition to LYT-300, which is being advanced in three indications, PureTech is progressing multiple CNS-focused programs derived from its Glyph platform.

Fragile X syndrome often results from improperly processed genetic material – correctly cutting RNA offers a potential treatment

Retrieved on: 
Wednesday, July 26, 2023
People, Molecular biology, Asos, DNA, CGG, Travel, Spinal muscular atrophy, Attention deficit hyperactivity disorder predominantly inattentive, Spectrum, Deficit spending, Mutation, Brain, Research, Cell, RNA, Cerebrospinal fluid, DSM-IV codes, X chromosome, Protein, Fragile X syndrome, Genetic disorder, Patient, FMR1, Gene, Mouse, Neurology, Vaccine, Antibiotics

We recently discovered that the mutated gene responsible for fragile X syndrome is active in most people with the disorder, not silenced as previously thought.

Key Points: 
  • We recently discovered that the mutated gene responsible for fragile X syndrome is active in most people with the disorder, not silenced as previously thought.
  • But the affected gene on the X choromosome is still unable to produce the protein it codes for because the genetic material isn’t properly processed.
  • Correcting this processing error suggests that a potential treatment for symptoms of fragile X may one day be available.
  • Having 200 or more CGG repeats silences the FMR1 gene and results in fragile X syndrome.

Zynerba Pharmaceuticals Presents Data on Zygel™ at the 55th Gatlinburg Conference

Retrieved on: 
Wednesday, April 12, 2023
Clinician Administered PTSD Scale, Methylation, Anxiety, DiGeorge syndrome, Safety, Adolescence, Maharashtra University of Health Sciences, Depression, FXS, INSPIRE, Fragile X syndrome, Behavior, FMR1, Syndrome, Patient, Conference, Birth control, Cannabidiol, Jean-François Zygel

DEVON, Pa., April 12, 2023 (GLOBE NEWSWIRE) -- Zynerba Pharmaceuticals, Inc. (Nasdaq: ZYNE), the leader in innovative pharmaceutically-produced transdermal cannabinoid therapies for orphan neuropsychiatric disorders, is presenting two posters at the 55th Gatlinburg Conference, being held April 10-13, 2023, in Kansas City, Mo. Copies of the posters are available on the Zynerba corporate website at www.zynerba.com/publications.

Key Points: 
  • Zygel achieved statistically significant and clinically meaningful improvements from baseline in multiple efficacy assessments and was generally well-tolerated through 38 weeks of treatment in INSPIRE, a Phase 2 trial with Zygel in children and adolescents with 22q
    DEVON, Pa., April 12, 2023 (GLOBE NEWSWIRE) -- Zynerba Pharmaceuticals , Inc. (Nasdaq: ZYNE), the leader in innovative pharmaceutically-produced transdermal cannabinoid therapies for orphan neuropsychiatric disorders, is presenting two posters at the 55th Gatlinburg Conference, being held April 10-13, 2023, in Kansas City, Mo.
  • Copies of the posters are available on the Zynerba corporate website at www.zynerba.com/publications .
  • Patients with complete methylation, who match the primary efficacy population in the ongoing confirmatory trial, RECONNECT, achieved and maintained clinically meaningful changes in Social Avoidance over 24 months, further supporting this design enhancement for RECONNECT.
  • These results are consistent with the previously reported 14-week treatment data suggesting a positive risk-benefit profile for Zygel in improving anxiety-related and other behavioral symptoms in children and adolescents with 22q when added to standard of care.

Zynerba Pharmaceuticals Reports Fourth Quarter and Full Year 2022 Financial Results and Operational Highlights

Retrieved on: 
Tuesday, March 28, 2023
CONNECT, Patent, Journal, Anxiety, Civil service commission, Journal of Neurodevelopmental Disorders, Silicon Valley Bank, NDA, Canaccord Genuity, Sales management, Depression, Silicon, FXS, INSPIRE, Fragile X syndrome, European Commission, Neurodevelopmental disorder, Patient, Behavior, FMR1, Development of the nervous system, Syndrome, Asset purchase agreement, MAA, Research, FDA, DiGeorge syndrome, Press release, Regulation of food and dietary supplements by the U.S. Food and Drug Administration, LPC, American College, Food, Pharmaceutical industry, Dietary supplement, Cryptocurrency, Cannabidiol, Jean-François Zygel

DEVON, Pa., March 28, 2023 (GLOBE NEWSWIRE) -- Zynerba Pharmaceuticals, Inc. (Nasdaq: ZYNE), the leader in innovative pharmaceutically-produced transdermal cannabinoid therapies for orphan neuropsychiatric disorders, today reported financial results for the fourth quarter and full year ended December 31, 2022, and provided an overview of recent operational highlights and a pipeline update.

Key Points: 
  • Published data in the Journal of Neurodevelopmental Disorders describing the role of the endocannabinoid system and cannabidiol therapy in FXS.
  • Research and development expenses were $5.5 million for the fourth quarter of 2022, including stock-based compensation of $0.5 million.
  • General and administrative expenses were $3.2 million in the fourth quarter of 2022, including stock-based compensation expense of $0.5 million.
  • Net loss for the fourth quarter of 2022 was $8.0 million, with basic and diluted loss per share of $(0.18).

Bionano Laboratories Expands its Clinical Testing Menu with Launch of OGM-Based Laboratory Developed Tests (LDTs) for Prenatal and Postnatal Analysis

Retrieved on: 
Wednesday, March 15, 2023
DSM-IV codes, Fragile X syndrome, LDT, Epilepsy, NIPS, SAN, CGG, ASD, Genome, Chromosome, Spectrum, Patient, SVS, History, OGM, Intellectual disability, Child, FMR1, Medical imaging

SAN DIEGO, March 15, 2023 (GLOBE NEWSWIRE) -- Bionano Laboratories today announced the expansion of its clinical testing menu with the launch of two new laboratory developed tests (LDTs) based on optical genome mapping (OGM), OGM-DxTM Postnatal Whole Genome SV and OGM-DxTM Prenatal Whole Genome SV.

Key Points: 
  • SAN DIEGO, March 15, 2023 (GLOBE NEWSWIRE) -- Bionano Laboratories today announced the expansion of its clinical testing menu with the launch of two new laboratory developed tests (LDTs) based on optical genome mapping (OGM), OGM-DxTM Postnatal Whole Genome SV and OGM-DxTM Prenatal Whole Genome SV.
  • These LDTs offer a genome-wide assessment of structural variants (SVs) and provide comprehensive testing for most common and rare chromosomal abnormalities.
  • The reports from this LDT will include a whole genome analysis to assess for SVs of diagnostic and prognostic value.
  • “We are pleased to see the launch of Bionano Laboratories' LDTs for postnatal and prenatal analysis, which can assist patients in their diagnostic and prognostic journey.

Bionano Announces Two Publications from its Clinical Study Designed to Support OGM as Part of Standard of Care (SOC) in Genetic Disease Testing including the First Peer-Reviewed Publication on the Multi-Site Evaluation of OGM Against SOC

Retrieved on: 
Thursday, March 2, 2023
DSM-IV codes, SOC, Doctor of Philosophy, Spectrum, Phenotype, Genomics, Clinical trial, OGM, University, University of Rochester, Polyploidy, Workflow, FMR1, Patient, Aneuploidy, SVS, Medical college, Genetic disorder, FACMG, Standard of care, Publication, SAN, University of Rochester Medical Center, Diagnosis, Chromosomal translocation, CNV, ASD, Intellectual disability, AOH, Dietary supplement, Pharmaceutical industry, Medical device, Mail order, Cryptocurrency, Genetic distance, 7p22.1 microduplication syndrome

describes the multi-site evaluation of optical genome mapping (OGM) for postnatal genetic disorders with 404 samples and shows:

Key Points: 
  • describes the multi-site evaluation of optical genome mapping (OGM) for postnatal genetic disorders with 404 samples and shows:
    Pre-print publication from Broeckel, et al.
  • The clinical trial is designed to compare OGM to SOC, including concordance, reproducibility, technical success rate and the rate of detecting reportable findings in cases.
  • A peer-reviewed publication covered an interim readout of the study, which showed OGM’s high technical performance and reproducibility across sites versus SOC analysis.
  • Key findings were reported as follows:
    The pre-print publication describes OGM performance metrics compared to SOC methods for challenging samples from diagnosed and undiagnosed rare diseases.

Bionano Announces Publication of Interim Readout from Clinical Trial Run by Consortium Analyzing Optical Genome Mapping as Potential Standard of Care for Prenatal Testing

Retrieved on: 
Wednesday, January 18, 2023
Chattogram Maa-O-Shishu Hospital Medical College, University of Rochester, TAT, University, IRB, Standard of care, DNA, Columbia University Irving Medical Center, OGM, Hospital, SOC, CMA, Genomics, Columbia University, FMR1, Diagnosis, FACMG, Institutional review board, Fragile X syndrome, FISH, University of Rochester Medical Center, Clinical trial, In situ hybridization, Karyotype, Data analysis, SAN, Harvard Medical School, Fluorescence, Workflow, Doctor of Philosophy, Medical imaging, Pharmaceutical industry, Medical device, Brigham

SAN DIEGO, Jan. 18, 2023 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (BNGO) today announced the publication of an interim report from an ongoing clinical trial designed to support establishing OGM as part of standard of care (SOC) in diagnosis of genetic disease for prenatal subjects. This publication reports on the prenatal genetic disease clinical trial program to evaluate OGM as an alternative to SOC workflows. This prenatal study focuses on comparing OGM to SOC, including concordance, reproducibility, technical success rates, turnaround time (TAT), diagnostic yield, and health economics. This first interim readout is designed to evaluate endpoints connected to analytical performance in key areas of technical performance and reproducibility of OGM.

Key Points: 
  • This publication reports on the prenatal genetic disease clinical trial program to evaluate OGM as an alternative to SOC workflows.
  • This prenatal study focuses on comparing OGM to SOC, including concordance, reproducibility, technical success rates, turnaround time (TAT), diagnostic yield, and health economics.
  • This first interim readout is designed to evaluate endpoints connected to analytical performance in key areas of technical performance and reproducibility of OGM.
  • “Development and validation of OGM assays for prenatal analysis is an area where we believe our technology can have tremendous global impact.