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    Genetic Disease

    Genetic diseases are disorders stemming from mutations in an individual's DNA sequence. These conditions can be a result of mutations in a single or multiple genes. An example of a genetic disease is cystic fibrosis: an inherited, progressive disease that affects the respiratory system.

    Webinars

    • JAN 01, 2018 | 10:00 AM
      Disease modelling with human pluripotent stem cells: general principles and specific applications to obesity
      Disease modelling with human pluripotent stem cells: general principles...
      The capacity to generate disease-relevant cell populations from human pluripotent stem cells has tremendous potential for shedding light on human disease mechanisms. I will discuss basic prin...
      Speaker: Florian Merkle
      Presented at: 6th annual 24 Hours of Stem Cells™ virtual event
      2
      DEC 06, 2017 | 8:00 AM
      WEBINAR:  #5: A Complete Workflow for Human Cell Line Authentication
      WEBINAR: #5: A Complete Workflow for Human Cell Line Authentication
      DATE: November 16, 2017TIME: 7:00am PST, 10:00 am EST, 3:00pm CETThis is the fifth topic in the webinar series on ‘Sanger Sequencing & Fragment Analysis made easy’Th...
      Speaker: Steve Jackson, PhD
      Sponsored By: Thermo Fisher Scientific
      5 2
      NOV 16, 2017 | 10:00 AM
      WEBINAR: Tracking neural network activity in the B-27™ Plus Neuronal Culture System with a Maestro Pro MEA platform
      WEBINAR: Tracking neural network activity in the B-27™ Plus Neuronal...
      DATE: November 16, 2017TIME: 10:00am PST, 1:00pm EST, Neuronal networks play a fundamental role in the brain, with many diseases linked to disruptions in network activity.  Cell-ba...
      Speaker: Daniel Millard, PhD
      Sponsored By: Thermo Fisher Scientific/Gibco
      6
      NOV 16, 2017 | 9:00 AM
      WEBINAR: Breaking Bad with 3D: The development of high throughput screening platforms to interrogate physiologically relevant models
      WEBINAR: Breaking Bad with 3D: The development of high throughput...
      DATE: November 16, 2017TIME: 9:00AM PT, 12:00PM ETThe wide use of 2D monolayer cultures for cancer drug discovery reflects the technical ease of implementation for drug screening, and t...
      Speaker: Madhu Nag, PhD
      Sponsored By: Revvity
      4
      NOV 16, 2017 | 7:00 AM
      WEBINAR:  #4: Genome editing workflow facilitated by the Thermo Fisher Scientific portfolio solution
      WEBINAR: #4: Genome editing workflow facilitated by the Thermo...
      DATE: November 07, 2017TIME: 7:00am PST, 10:00 am EST, 3:00pm CETThis is the fourth topic in the webinar series on ‘Sanger Sequencing & Fragment Analysis made easy’G...
      Speaker: Steve Jackson, PhD
      Sponsored By: Thermo Fisher Scientific
      5
      NOV 14, 2017 | 12:00 PM
      WEBINAR: Exosome miRNA sequencing for biomarker profiling using the Ion S5 System and Ion Total RNA-seq kit
      WEBINAR: Exosome miRNA sequencing for biomarker profiling using...
      DATE: November 14, 2017TIME: 12:00pm PST, 03:00pm ESTLearning Objectives: How to maximise RNA yield and extraction from exosomes and biological fluids How to construct small RNA...
      Speaker: Dr. Lesley Cheng
      Sponsored By: Thermo Fisher Scientific - Ion Torrent
      9
      NOV 09, 2017 | 4:00 AM
      Human pluripotent stem cells in understanding genetic cardiovascular disease and effects of drugs
      Human pluripotent stem cells in understanding genetic cardiovascular...
      Derivation of many different cell types from human pluripotent stem cells (embryonic stem cells or HESCs and induced pluripotent stem cells or hiPS cells) is an area of growing interest both ...
      Speaker: Christine Mummery
      Presented at: 5th annual 24 Hours of Stem Cells™ virtual event
      4 1
      NOV 08, 2017 | 1:30 PM
      Rapid Variant Interpretation and Reporting Using the QIAGEN Knowledgebase and QIAGEN Clinical Insight - Interpret (QCI-I)
      Rapid Variant Interpretation and Reporting Using the QIAGEN Knowledgebase...
      The advent of next generation sequencing has transformed the way we identify mutations with clinical implications. As the compendium of variants expands, gathering the most current and accura...
      Speaker: Jennifer Poitras, PhD
      Presented at: Clinical Diagnostics & Research Virtual Event Series 2017
      1
      NOV 08, 2017 | 1:30 PM
      Guiding Clinical Laboratory Integration of Next-Generation Sequencing to Assure Quality Testing
      Guiding Clinical Laboratory Integration of Next-Generation Sequencing...
      The integration of next-generation sequencing (NGS) tests into clinical laboratory practice across medical disciplines provides medically actionable data that in some cases are not otherwise...
      Speaker: Ira Lubin, PhD, FACMG
      Presented at: Clinical Diagnostics & Research Virtual Event Series 2017
      2
      NOV 08, 2017 | 12:00 PM
      Testing for Prostate-Specific Antigen (PSA): To Screen or Not to Screen
      Testing for Prostate-Specific Antigen (PSA): To Screen or Not...
      Despite the fact that screening for many cancers is associated with net harm, healthcare consumers continue to be screened. PSA is the most commonly performed laboratory screening test for ca...
      Speaker: Shahram Shahangian, PhD, MS, DABCC, FACB
      Presented at: Clinical Diagnostics & Research Virtual Event Series 2017
      2
      NOV 07, 2017 | 8:00 AM
      WEBINAR: The power of multiplexing and applications of the QuantiGene Plex Assay in oncology research and diagnostics
      WEBINAR: The power of multiplexing and applications of the QuantiGene...
      Cancer research diagnostic services in pathology laboratories worldwide have been negatively impacted by a lack of fresh-frozen tissue samples, the degradation of DNA and RNA in archival tiss...
      Speaker: Godfrey Grech, PhD
      Presented at: Protein and Cell Analysis Education Series
      Sponsored By: Thermo Fisher Scientific
      2 1
      NOV 02, 2017 | 10:00 AM
      WEBINAR: A CRISPR Way of Making Mice
      WEBINAR: A CRISPR Way of Making Mice
      DATE: November 2, 2017TIME: 10:00am PDT, 1:00pm EDTA CRISPR Way of Making MiceThe bulk of genetic variation associated with human disease exists in the noncoding genome, much of whi...
      Speaker: Joe Miano, PhD
      Sponsored By: Synthego
      12 1
      OCT 25, 2017 | 8:00 AM
      WEBINAR: Genotyping to enable large-scale precision medicine research studies
      WEBINAR: Genotyping to enable large-scale precision medicine research...
      DATE: October 25, 2017TIME: 08:00am PDT, 11:00am EDTAs we learn more about the implications of genetic variation in 21st century medicine, the utilization of genotyping as a molecular t...
      Speaker: Mark Bouzyk, PhD
      Sponsored By: Thermo Fisher Scientific - Applied Biosystems
      5 1
      OCT 25, 2017 | 6:00 AM
      WEBINAR #3:  Enabling neurological disease research via DNA fragment analysis on the new SeqStudio genetic analyzer
      WEBINAR #3: Enabling neurological disease research via DNA fragment...
      DATE: October 25, 2017TIME: 06:00am PDT, 09:00am EDTThis is the third topic in the webinar series on ‘Sanger Sequencing & Fragment Analysis made easy’.Repetitive DNA...
      Speaker: Gary Latham, PhD
      Sponsored By: Thermo Fisher Scientific
      3
      OCT 24, 2017 | 9:00 AM
      WEBINAR:  Genome Editing for Functional Genomics and Drug Discovery
      WEBINAR: Genome Editing for Functional Genomics and Drug Discovery
      DATE: October 24, 2017TIME: 09:00am PDT, 12:00pm EDTDoes your work involve disease models? Do you have a need to introduce specific genomic changes in the cells of your choice? Do you w...
      Speaker: Chetana Revankar , Sanjay Kumar
      Sponsored By: Thermo Fisher Scientific
      4 2
      OCT 12, 2017 | 10:30 AM
      Hypersecretion of fibroblast-derived exosomes during chemotherapy promotes pancreatic cancer chemoresistance
      Hypersecretion of fibroblast-derived exosomes during chemotherapy...
      Pancreatic ductal adenocarcinoma (PDAC) has a five-year survival rate of only 9%. Acquired drug resistance is a major factor that limits the effectiveness of chemotherapy. Exosomes, secreted...
      Speaker: Reginald Hill, PhD
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2017
      1
      OCT 12, 2017 | 9:00 AM
      Circulating biomarkers - what matters for the isolation of biomarkers from Liquid Biopsy samples
      Circulating biomarkers - what matters for the isolation of biomarkers...
      The analysis of circulating biomarkers in a patient’s blood holds significant potential for early disease detection and disease monitoring. Circulating DNA is the most commonly studied...
      Speaker: Verena Schramm, PhD
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2017
      Sponsored By: QIAGEN Molecular Diagnostics
      1
      OCT 11, 2017 | 9:00 AM
      Personalizing Melanoma Management with Molecular Diagnostics
      Personalizing Melanoma Management with Molecular Diagnostics
      More and more decisions will center on the ability to molecularly characterize a disease. So the molecular diagnostic laboratory will have a pivotal role. What does that look like? Will we be...
      Speaker: Federico Monzon, MD
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2017
      1
      OCT 11, 2017 | 6:00 AM
      Cancer Chemotherapy and the tools needed to Advance Treatment in a Diverse Racial Population
      Cancer Chemotherapy and the tools needed to Advance Treatment...
      Colorectal  cancer  (CRC)  is  the  third  most  commonly  diagnosed  cancer  and  is  the  third leading  cause of  ...
      Speaker: Jennie Williams, PhD
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2017
      1
      OCT 01, 2017 | 12:00 AM
      Addressing the scalability of human iPSC-derived neurons for HTS implementation and phenotypic screening
      Addressing the scalability of human iPSC-derived neurons for HTS...
      Traditional high throughput screening (HTS) assays for neuronal targets employ non-human primary neuronal cells due to the scale necessary for HTS. Isolation of mouse primary neurons can be u...
      Speaker: BanuPriya Sridharan
      Presented at: 6th annual 24 Hours of Stem Cells™ virtual event
      2
      SEP 28, 2017 | 10:00 AM
      WEBINAR: Development of anti-cancer gene therapies through understanding of cytokine-induced programmed cell death
      WEBINAR: Development of anti-cancer gene therapies through understanding...
      DATE: September 28, 2017TIME: 10:00am PDT, 1:00pm EDT The use of gene therapy is well studied due to its potential to treat cancer, the second leading cause of death worldwide....
      Speaker: Leah Persaud
      Sponsored By: Thermo Fisher Scientific/Gibco
      11 2
      SEP 28, 2017 | 9:00 AM
      Fine tuning of myosin activity shapes actomyosin network organization and tissue contractility of the C. elegans spermatheca
      Fine tuning of myosin activity shapes actomyosin network organization...
      Contractile non-muscle cells, including smooth muscle and myoepithelial cells, provide the mechanical forces required for tissue homeostasis in numerous organ systems. For example, smooth mus...
      Speaker: Alison Wirshing, PhD
      Presented at: Cell Biology Virtual Event Series 2017
      1
      SEP 27, 2017 | 9:00 AM
      WEBINAR: Challenges in CMV Management
      WEBINAR: Challenges in CMV Management
      DATE:  September 27, 2017TIME:   9:00am PT, 12:00pm ETTransplant Educational Webinar SeriesChallenges in CMV Management Management of CMV infected and immu...
      Speaker: David Hillyard
      Sponsored By: Abbott Molecular Diagnostic, Abbott Molecular Diagnostic
      8
      SEP 14, 2017 | 7:30 AM
      Keynote Presentation: A Mechanistic Approach to Overcoming Antibacterial Drug Resistance
      Keynote Presentation: A Mechanistic Approach to Overcoming Antibacterial...
      Quinolones are one the most commonly prescribed classes of antibacterials in the world and are used to treat a broad variety of Gram-negative and Gram-positive bacterial infections in humans....
      Speaker: Neil Osheroff, PhD
      Presented at: Microbiology & Immunology Virtual Event Series 2017
      1
    JAN 01, 2018 | 10:00 AM
    Disease modelling with human pluripotent stem cells: general principles and specific applications to obesity
    Disease modelling with human pluripotent stem cells: general principles...
    The capacity to generate disease-relevant cell populations from human pluripotent stem cells has tremendous potential for shedding light on human disease mechanisms. I will discuss basic prin...
    Speaker: Florian Merkle
    Presented at: 6th annual 24 Hours of Stem Cells™ virtual event
    2
    DEC 06, 2017 | 8:00 AM
    WEBINAR:  #5: A Complete Workflow for Human Cell Line Authentication
    WEBINAR: #5: A Complete Workflow for Human Cell Line Authentication
    DATE: November 16, 2017TIME: 7:00am PST, 10:00 am EST, 3:00pm CETThis is the fifth topic in the webinar series on ‘Sanger Sequencing & Fragment Analysis made easy’Th...
    Speaker: Steve Jackson, PhD
    Sponsored By: Thermo Fisher Scientific
    5 2
    NOV 16, 2017 | 10:00 AM
    WEBINAR: Tracking neural network activity in the B-27™ Plus Neuronal Culture System with a Maestro Pro MEA platform
    WEBINAR: Tracking neural network activity in the B-27™ Plus Neuronal...
    DATE: November 16, 2017TIME: 10:00am PST, 1:00pm EST, Neuronal networks play a fundamental role in the brain, with many diseases linked to disruptions in network activity.  Cell-ba...
    Speaker: Daniel Millard, PhD
    Sponsored By: Thermo Fisher Scientific/Gibco
    6
    NOV 16, 2017 | 9:00 AM
    WEBINAR: Breaking Bad with 3D: The development of high throughput screening platforms to interrogate physiologically relevant models
    WEBINAR: Breaking Bad with 3D: The development of high throughput...
    DATE: November 16, 2017TIME: 9:00AM PT, 12:00PM ETThe wide use of 2D monolayer cultures for cancer drug discovery reflects the technical ease of implementation for drug screening, and t...
    Speaker: Madhu Nag, PhD
    Sponsored By: Revvity
    4
    NOV 16, 2017 | 7:00 AM
    WEBINAR:  #4: Genome editing workflow facilitated by the Thermo Fisher Scientific portfolio solution
    WEBINAR: #4: Genome editing workflow facilitated by the Thermo...
    DATE: November 07, 2017TIME: 7:00am PST, 10:00 am EST, 3:00pm CETThis is the fourth topic in the webinar series on ‘Sanger Sequencing & Fragment Analysis made easy’G...
    Speaker: Steve Jackson, PhD
    Sponsored By: Thermo Fisher Scientific
    5
     
     
  • NOV 14, 2017 | 12:00 PM
    WEBINAR: Exosome miRNA sequencing for biomarker profiling using the Ion S5 System and Ion Total RNA-seq kit
    WEBINAR: Exosome miRNA sequencing for biomarker profiling using...
    DATE: November 14, 2017TIME: 12:00pm PST, 03:00pm ESTLearning Objectives: How to maximise RNA yield and extraction from exosomes and biological fluids How to construct small RNA...
    Speaker: Dr. Lesley Cheng
    Sponsored By: Thermo Fisher Scientific - Ion Torrent
    9
    NOV 09, 2017 | 4:00 AM
    Human pluripotent stem cells in understanding genetic cardiovascular disease and effects of drugs
    Human pluripotent stem cells in understanding genetic cardiovascular...
    Derivation of many different cell types from human pluripotent stem cells (embryonic stem cells or HESCs and induced pluripotent stem cells or hiPS cells) is an area of growing interest both ...
    Speaker: Christine Mummery
    Presented at: 5th annual 24 Hours of Stem Cells™ virtual event
    4 1
    NOV 08, 2017 | 1:30 PM
    Rapid Variant Interpretation and Reporting Using the QIAGEN Knowledgebase and QIAGEN Clinical Insight - Interpret (QCI-I)
    Rapid Variant Interpretation and Reporting Using the QIAGEN Knowledgebase...
    The advent of next generation sequencing has transformed the way we identify mutations with clinical implications. As the compendium of variants expands, gathering the most current and accura...
    Speaker: Jennifer Poitras, PhD
    Presented at: Clinical Diagnostics & Research Virtual Event Series 2017
    1
    NOV 08, 2017 | 1:30 PM
    Guiding Clinical Laboratory Integration of Next-Generation Sequencing to Assure Quality Testing
    Guiding Clinical Laboratory Integration of Next-Generation Sequencing...
    The integration of next-generation sequencing (NGS) tests into clinical laboratory practice across medical disciplines provides medically actionable data that in some cases are not otherwise...
    Speaker: Ira Lubin, PhD, FACMG
    Presented at: Clinical Diagnostics & Research Virtual Event Series 2017
    2
    NOV 08, 2017 | 12:00 PM
    Testing for Prostate-Specific Antigen (PSA): To Screen or Not to Screen
    Testing for Prostate-Specific Antigen (PSA): To Screen or Not...
    Despite the fact that screening for many cancers is associated with net harm, healthcare consumers continue to be screened. PSA is the most commonly performed laboratory screening test for ca...
    Speaker: Shahram Shahangian, PhD, MS, DABCC, FACB
    Presented at: Clinical Diagnostics & Research Virtual Event Series 2017
    2
     
     
  • NOV 07, 2017 | 8:00 AM
    WEBINAR: The power of multiplexing and applications of the QuantiGene Plex Assay in oncology research and diagnostics
    WEBINAR: The power of multiplexing and applications of the QuantiGene...
    Cancer research diagnostic services in pathology laboratories worldwide have been negatively impacted by a lack of fresh-frozen tissue samples, the degradation of DNA and RNA in archival tiss...
    Speaker: Godfrey Grech, PhD
    Presented at: Protein and Cell Analysis Education Series
    Sponsored By: Thermo Fisher Scientific
    2 1
    NOV 02, 2017 | 10:00 AM
    WEBINAR: A CRISPR Way of Making Mice
    WEBINAR: A CRISPR Way of Making Mice
    DATE: November 2, 2017TIME: 10:00am PDT, 1:00pm EDTA CRISPR Way of Making MiceThe bulk of genetic variation associated with human disease exists in the noncoding genome, much of whi...
    Speaker: Joe Miano, PhD
    Sponsored By: Synthego
    12 1
    OCT 25, 2017 | 8:00 AM
    WEBINAR: Genotyping to enable large-scale precision medicine research studies
    WEBINAR: Genotyping to enable large-scale precision medicine research...
    DATE: October 25, 2017TIME: 08:00am PDT, 11:00am EDTAs we learn more about the implications of genetic variation in 21st century medicine, the utilization of genotyping as a molecular t...
    Speaker: Mark Bouzyk, PhD
    Sponsored By: Thermo Fisher Scientific - Applied Biosystems
    5 1
    OCT 25, 2017 | 6:00 AM
    WEBINAR #3:  Enabling neurological disease research via DNA fragment analysis on the new SeqStudio genetic analyzer
    WEBINAR #3: Enabling neurological disease research via DNA fragment...
    DATE: October 25, 2017TIME: 06:00am PDT, 09:00am EDTThis is the third topic in the webinar series on ‘Sanger Sequencing & Fragment Analysis made easy’.Repetitive DNA...
    Speaker: Gary Latham, PhD
    Sponsored By: Thermo Fisher Scientific
    3
    OCT 24, 2017 | 9:00 AM
    WEBINAR:  Genome Editing for Functional Genomics and Drug Discovery
    WEBINAR: Genome Editing for Functional Genomics and Drug Discovery
    DATE: October 24, 2017TIME: 09:00am PDT, 12:00pm EDTDoes your work involve disease models? Do you have a need to introduce specific genomic changes in the cells of your choice? Do you w...
    Speaker: Chetana Revankar , Sanjay Kumar
    Sponsored By: Thermo Fisher Scientific
    4 2
     
     
  • OCT 12, 2017 | 10:30 AM
    Hypersecretion of fibroblast-derived exosomes during chemotherapy promotes pancreatic cancer chemoresistance
    Hypersecretion of fibroblast-derived exosomes during chemotherapy...
    Pancreatic ductal adenocarcinoma (PDAC) has a five-year survival rate of only 9%. Acquired drug resistance is a major factor that limits the effectiveness of chemotherapy. Exosomes, secreted...
    Speaker: Reginald Hill, PhD
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2017
    1
    OCT 12, 2017 | 9:00 AM
    Circulating biomarkers - what matters for the isolation of biomarkers from Liquid Biopsy samples
    Circulating biomarkers - what matters for the isolation of biomarkers...
    The analysis of circulating biomarkers in a patient’s blood holds significant potential for early disease detection and disease monitoring. Circulating DNA is the most commonly studied...
    Speaker: Verena Schramm, PhD
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2017
    Sponsored By: QIAGEN Molecular Diagnostics
    1
    OCT 11, 2017 | 9:00 AM
    Personalizing Melanoma Management with Molecular Diagnostics
    Personalizing Melanoma Management with Molecular Diagnostics
    More and more decisions will center on the ability to molecularly characterize a disease. So the molecular diagnostic laboratory will have a pivotal role. What does that look like? Will we be...
    Speaker: Federico Monzon, MD
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2017
    1
    OCT 11, 2017 | 6:00 AM
    Cancer Chemotherapy and the tools needed to Advance Treatment in a Diverse Racial Population
    Cancer Chemotherapy and the tools needed to Advance Treatment...
    Colorectal  cancer  (CRC)  is  the  third  most  commonly  diagnosed  cancer  and  is  the  third leading  cause of  ...
    Speaker: Jennie Williams, PhD
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2017
    1
    OCT 01, 2017 | 12:00 AM
    Addressing the scalability of human iPSC-derived neurons for HTS implementation and phenotypic screening
    Addressing the scalability of human iPSC-derived neurons for HTS...
    Traditional high throughput screening (HTS) assays for neuronal targets employ non-human primary neuronal cells due to the scale necessary for HTS. Isolation of mouse primary neurons can be u...
    Speaker: BanuPriya Sridharan
    Presented at: 6th annual 24 Hours of Stem Cells™ virtual event
    2
     
     
  • SEP 28, 2017 | 10:00 AM
    WEBINAR: Development of anti-cancer gene therapies through understanding of cytokine-induced programmed cell death
    WEBINAR: Development of anti-cancer gene therapies through understanding...
    DATE: September 28, 2017TIME: 10:00am PDT, 1:00pm EDT The use of gene therapy is well studied due to its potential to treat cancer, the second leading cause of death worldwide....
    Speaker: Leah Persaud
    Sponsored By: Thermo Fisher Scientific/Gibco
    11 2
    SEP 28, 2017 | 9:00 AM
    Fine tuning of myosin activity shapes actomyosin network organization and tissue contractility of the C. elegans spermatheca
    Fine tuning of myosin activity shapes actomyosin network organization...
    Contractile non-muscle cells, including smooth muscle and myoepithelial cells, provide the mechanical forces required for tissue homeostasis in numerous organ systems. For example, smooth mus...
    Speaker: Alison Wirshing, PhD
    Presented at: Cell Biology Virtual Event Series 2017
    1
    SEP 27, 2017 | 9:00 AM
    WEBINAR: Challenges in CMV Management
    WEBINAR: Challenges in CMV Management
    DATE:  September 27, 2017TIME:   9:00am PT, 12:00pm ETTransplant Educational Webinar SeriesChallenges in CMV Management Management of CMV infected and immu...
    Speaker: David Hillyard
    Sponsored By: Abbott Molecular Diagnostic, Abbott Molecular Diagnostic
    8
    SEP 14, 2017 | 7:30 AM
    Keynote Presentation: A Mechanistic Approach to Overcoming Antibacterial Drug Resistance
    Keynote Presentation: A Mechanistic Approach to Overcoming Antibacterial...
    Quinolones are one the most commonly prescribed classes of antibacterials in the world and are used to treat a broad variety of Gram-negative and Gram-positive bacterial infections in humans....
    Speaker: Neil Osheroff, PhD
    Presented at: Microbiology & Immunology Virtual Event Series 2017
    1
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