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    Hereditary Diseases

    Hereditary diseases are diseases that can be passed down to offspring. A common example of this is color blindness, which is an X-linked chromosomal disorder.

    Webinars

    • MAY 05, 2022 | 8:00 AM
      Solve Every Hereditary Disorder Case for All Types of Genetic Variation
      Solve Every Hereditary Disorder Case for All Types of Genetic...
      Date: May 5, 2022 Time: 8:00am (PDT), 11:00pm (EDT), 5:00pm (CET) Despite incredible advances in genomics, the NGS data interpretation workflow for hereditary diseases remains challenging...
      Speaker: Georgios Stamoulis, Ph.D.
      Sponsored By: QIAGEN
      7
      AUG 25, 2021 | 12:00 AM
      Mechanistic Insight into Tandem Repeat Expansions in Amyotrophic Lateral Sclerosis
      Mechanistic Insight into Tandem Repeat Expansions in Amyotrophic...
      Over 40 tandem repeats undergo expansion events that lead to neurological disease. This number is likely an underestimate as many repeats are difficult to amplify using existing short read s...
      Speaker: Paul Valdmanis, PhD
      Presented at: Neuroscience Virtual Event Series 2021
      Sponsored By: PacBio
      1
      JUN 08, 2021 | 10:00 AM
      Researching Early Detection of Ovarian and Endometrial Cancer using High Sensitivity Genomic Assays
      Researching Early Detection of Ovarian and Endometrial Cancer...
      Date: June 8, 2021 Time: 10:00am (PDT), 1:00pm (EDT) Most deaths from ovarian and endometrial cancer are due to high-grade subtypes that metastasize before they are detectable by available...
      Speaker: Lucy Gilbert, MD, MSc, FRCOG , Ioannis Ragoussis, Ph.D.
      Sponsored By: Agilent
      20
      APR 22, 2021 | 6:00 AM
      Panel Presentation: Powering the precision in "precision medicine" - The role of curated data, databases and knowledge: Does a gold standard exist?
      Panel Presentation: Powering the precision in "precision medicine"...
      As NGS panels grow, test interpretation becomes more complex and time-consuming / With the explosion of NGS data, the need for consolidated databases with reliable and transparent curation a...
      Speaker: Dominic John , Simon Forbes, PhD , Shawn Bauer , Lisa Barrow-Laing
      Presented at: Genetics Week Virtual Event Series 2021
      Sponsored By: QIAGEN
      2
      FEB 24, 2021 | 12:00 AM
      The Comprehensive A.I.-Driven Genomic Landscape for ALS - Implications for Drug Discovery and Development
      The Comprehensive A.I.-Driven Genomic Landscape for ALS - Implications...
      Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease affecting approximately 1 in 50,000 people worldwide. About 10% of these cases are found to have a hereditary component, bu...
      Speaker: Mark Kiel, MD, PhD
      Presented at: Drug Discovery & Development Virtual Event Series 2021
      2
      NOV 12, 2020 | 3:00 PM
      Translating insights into better outcomes: The new QIAseq Human Exome integrated solution
      Translating insights into better outcomes: The new QIAseq Human...
      What if your lab could perform exome sequencing with the same sensitivity and efficiency of targeted sequencing? The new integrated QIAseq Human Exome TR Insights solution from QIAGEN delive...
      Speaker: Brian Dugan, M.S. , Rupert Yip, PhD
      Presented at: Clinical Diagnostics & Research Virtual Event Series 2020
      Sponsored By: QIAGEN
      1
      OCT 08, 2020 | 12:00 AM
      Hereditary Cancer Genetics
      Hereditary Cancer Genetics
      Learning Objectives: 1. To provide an overview of relevant hereditary cancer syndromes 2. To encourage providers to obtain a thorough family history 3. To educate providers about available r...
      Speaker: Rinki Agarwal, MD FACOG,FACMG
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2020
      4
      JUL 02, 2020 | 2:00 PM
      Customized Theragen PMRA chip : design history and application examples
      Customized Theragen PMRA chip : design history and application...
      Theragen Bio. (TheragenEtex Subsidiary company) has been conducted the genome-wide research and the genome-based genetic testing services. From 2007, researchers of Theragen Bio. are collabo...
      Speaker: Kyung-Won Hong, PhD
      Presented at: APJ Virtual Genetic Solutions Tour 2020
      1
      APR 22, 2020 | 12:00 AM
      RNA-seq for the Detection of Gene Fusions in Tumors
      RNA-seq for the Detection of Gene Fusions in Tumors
      In this presentation Dr. Kevin Halling describes the use of RNA-seq testing for identifying clinically significant gene fusions in tumors that can be used to help establish diagnosis and gui...
      Speaker: Kevin Halling, MD, PhD
      Presented at: Genetics Week Virtual Event Series 2020
      1
      APR 10, 2019 | 10:30 AM
      A Sample to Insight Solution for Detection and Classification of Challenging Pathogenic BRCA Mutations
      A Sample to Insight Solution for Detection and Classification...
      The BRCA1 and BRCA2 genes represent the best examples of the modern understanding of cancer molecular genetics. Testing for germline and somatic mutations in BRCA 1/2 has gradually become com...
      Speaker: Anika Joecker, PhD , Jennifer Poitras, PhD
      Presented at: Molecular Diagnostics Virtual Event Series 2019
      Sponsored By: QIAGEN
      5
      NOV 15, 2018 | 12:00 PM
      Better Knowledge, Better Care: Precision Medicine for Any Cancer, Any Assay, on Your Platform
      Better Knowledge, Better Care: Precision Medicine for Any Cancer,...
      QIAGEN helps your team focus on the opportunities, not the obstacles, with an end-to-end clinical testing solution. During this talk, we will present a lung cancer case study to show how QIAG...
      Speaker: Raed Samara, PhD , Dan Richards, PhD
      Presented at: Clinical Diagnostics & Research Virtual Event Series 2018
      Sponsored By: QIAGEN
      2
      NOV 14, 2018 | 12:00 PM
      Automated Variant Classification in QIAGEN Clinical Insight Shows Near Perfect Concordance with ClinVar Expert Panel Assessments
      Automated Variant Classification in QIAGEN Clinical Insight Shows...
      As the compendium of putatively disease causing variants expands, gathering the most current and accurate information is critical to computing variant classifications. The QIAGEN knowledgebas...
      Speaker: Jennifer Poitras, PhD
      Presented at: Clinical Diagnostics & Research Virtual Event Series 2018
      Sponsored By: QIAGEN
      1
      OCT 25, 2018 | 8:00 AM
      Disease modeling and cancer therapy in stem cell-derived 3D organoid systems
      Disease modeling and cancer therapy in stem cell-derived 3D organoid...
      DATE: October 25, 2018TIME:  08:00am PDT, 11:00am EDT While the significance of the microbiome is unprecedented, a thorough study to dissect the role of individual popul...
      Speaker: Devanjali Dutta, PhD
      Sponsored By: Thermo Fisher Scientific/Gibco
      7 1
      MAY 09, 2018 | 12:00 PM
      Using Genome Wide Sequencing to Identify a Gene-Gene Interaction
      Using Genome Wide Sequencing to Identify a Gene-Gene Interaction
      In this presentation I will describe results from a family study designed to identify the genetic cause for familial clustering of several early onset cancers.   Data from next generatio...
      Speaker: Christopher I Amos, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2018
      1
      MAY 09, 2018 | 7:30 AM
      C.E. CREDITS
      Keynote Presentation: Informing Clinical Interpretations of Structural Chromosome Rearrangements:  Implementing Evolving Knowledge from Chromatin Structure
      Keynote Presentation: Informing Clinical Interpretations of Structural...
      The arrangement of chromatin inside the nucleus has long been recognized as a key element in genomic stability and an active participant in transcriptional control. With the development and d...
      Speaker: Cynthia Morton, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2018
      3
      APR 12, 2018 | 7:30 AM
      Keynote Presentation: Molecular Testing for Hereditary-Familial Prostate Cancer and for Risk Assessment in Localized Disease
      Keynote Presentation: Molecular Testing for Hereditary-Familial...
      Prostate cancer is one of the most common cancers in men and a major health issue in the US and Worldwide.  Until recently, prostate cancer was not felt to be a hereditary disease.  ...
      Speaker: Judd W Moul, MD, FACS
      Presented at: Molecular Diagnostics Virtual Event Series 2018
      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
      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
      JUL 20, 2017 | 8:00 AM
      WEBINAR: Application of targeted next-generation sequencing (NGS) panels in neurodevelopmental disorder research
      WEBINAR: Application of targeted next-generation sequencing (NGS)...
      DATE: July 20, 2017TIME: 8:00am PT, 11:00am ET, 5:00pm CESTNeurodevelopmental disorders (NDDs) are clinically and etiologically highly heterogeneous and are characterized by a...
      Speaker: Alessandra Murgia , Francisco Hernandez-Guzman
      Sponsored By: Thermo Fisher Scientific - Ion Torrent
      5
      MAY 11, 2017 | 10:30 AM
      C.E. CREDITS
      Functional Characterization of Gene Regulatory Elements
      Functional Characterization of Gene Regulatory Elements
      Nucleotide variation in gene regulatory elements is a major cause of human disease. Despite continual progress in the cataloging of these elements, little is known about the code and grammati...
      Speaker: Nadav Ahituv, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2017
      1
      MAY 09, 2017 | 8:00 AM
      WEBINAR: Deafness in the Genomic Era: Discoveries, Challenges and Opportunities
      WEBINAR: Deafness in the Genomic Era: Discoveries, Challenges...
      DATE: May 9, 2017TIME: 8:00am PT, 11:00am ETHearing loss is the most common sensory defect in humans. It affects 360 million people worldwide and by 2020, that number is predi...
      Speaker: Hela Azaiez, PhD
      Sponsored By: Agilent
      11 8
      APR 12, 2017 | 7:30 AM
      Keynote Presentation - Variant interpretation in Molecular Diagnostics: Challenges and Knowledge Gaps
      Keynote Presentation - Variant interpretation in Molecular Diagnostics:...
      As next generation sequencing has lowered the price of DNA sequencing orders of magnitude below what it cost to create the first consensus human genome, the sheer diversity of human sequence...
      Speaker: Robert Nussbaum MD, FACP, FACMG
      Presented at: Molecular Diagnostics Virtual Event Series 2017
      5
      NOV 02, 2016 | 6:00 AM
      Fast and easy identification of disease causing variants in hereditary diseases using patient phenotype information and testing for different modes of inheritance
      Fast and easy identification of disease causing variants in hereditary...
      Whole genome and exome sequencing is being widely used to identify disease-causing variants in patients with hereditary and rare diseases. Discovering the true disease-causing variants often...
      Speaker: Anika Joecker, PhD
      Presented at: Clinical Diagnostics & Research Virtual Event Series 2016
      3
      MAR 22, 2016 | 9:30 AM
      Tales from the Clinic
      Tales from the Clinic
      Medical genetics is a specialty of medicine that encompasses patients at all ages (prenatal, pediatric, adult), as well as all organ systems. As the genetic causes of more diseases have been ...
      Speaker: Fuki Hisama, MD, FACMG, FAAN , Eric Konnick, MD, MS , Laura Amendola, MS CGC
      Presented at: GENETICS IN YOUR CLINIC: WHAT YOU CAN AND SHOULD DO NOW
      3
    MAY 05, 2022 | 8:00 AM
    Solve Every Hereditary Disorder Case for All Types of Genetic Variation
    Solve Every Hereditary Disorder Case for All Types of Genetic...
    Date: May 5, 2022 Time: 8:00am (PDT), 11:00pm (EDT), 5:00pm (CET) Despite incredible advances in genomics, the NGS data interpretation workflow for hereditary diseases remains challenging...
    Speaker: Georgios Stamoulis, Ph.D.
    Sponsored By: QIAGEN
    7
    AUG 25, 2021 | 12:00 AM
    Mechanistic Insight into Tandem Repeat Expansions in Amyotrophic Lateral Sclerosis
    Mechanistic Insight into Tandem Repeat Expansions in Amyotrophic...
    Over 40 tandem repeats undergo expansion events that lead to neurological disease. This number is likely an underestimate as many repeats are difficult to amplify using existing short read s...
    Speaker: Paul Valdmanis, PhD
    Presented at: Neuroscience Virtual Event Series 2021
    Sponsored By: PacBio
    1
    JUN 08, 2021 | 10:00 AM
    Researching Early Detection of Ovarian and Endometrial Cancer using High Sensitivity Genomic Assays
    Researching Early Detection of Ovarian and Endometrial Cancer...
    Date: June 8, 2021 Time: 10:00am (PDT), 1:00pm (EDT) Most deaths from ovarian and endometrial cancer are due to high-grade subtypes that metastasize before they are detectable by available...
    Speaker: Lucy Gilbert, MD, MSc, FRCOG , Ioannis Ragoussis, Ph.D.
    Sponsored By: Agilent
    20
    APR 22, 2021 | 6:00 AM
    Panel Presentation: Powering the precision in "precision medicine" - The role of curated data, databases and knowledge: Does a gold standard exist?
    Panel Presentation: Powering the precision in "precision medicine"...
    As NGS panels grow, test interpretation becomes more complex and time-consuming / With the explosion of NGS data, the need for consolidated databases with reliable and transparent curation a...
    Speaker: Dominic John , Simon Forbes, PhD , Shawn Bauer , Lisa Barrow-Laing
    Presented at: Genetics Week Virtual Event Series 2021
    Sponsored By: QIAGEN
    2
    FEB 24, 2021 | 12:00 AM
    The Comprehensive A.I.-Driven Genomic Landscape for ALS - Implications for Drug Discovery and Development
    The Comprehensive A.I.-Driven Genomic Landscape for ALS - Implications...
    Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease affecting approximately 1 in 50,000 people worldwide. About 10% of these cases are found to have a hereditary component, bu...
    Speaker: Mark Kiel, MD, PhD
    Presented at: Drug Discovery & Development Virtual Event Series 2021
    2
     
     
  • NOV 12, 2020 | 3:00 PM
    Translating insights into better outcomes: The new QIAseq Human Exome integrated solution
    Translating insights into better outcomes: The new QIAseq Human...
    What if your lab could perform exome sequencing with the same sensitivity and efficiency of targeted sequencing? The new integrated QIAseq Human Exome TR Insights solution from QIAGEN delive...
    Speaker: Brian Dugan, M.S. , Rupert Yip, PhD
    Presented at: Clinical Diagnostics & Research Virtual Event Series 2020
    Sponsored By: QIAGEN
    1
    OCT 08, 2020 | 12:00 AM
    Hereditary Cancer Genetics
    Hereditary Cancer Genetics
    Learning Objectives: 1. To provide an overview of relevant hereditary cancer syndromes 2. To encourage providers to obtain a thorough family history 3. To educate providers about available r...
    Speaker: Rinki Agarwal, MD FACOG,FACMG
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2020
    4
    JUL 02, 2020 | 2:00 PM
    Customized Theragen PMRA chip : design history and application examples
    Customized Theragen PMRA chip : design history and application...
    Theragen Bio. (TheragenEtex Subsidiary company) has been conducted the genome-wide research and the genome-based genetic testing services. From 2007, researchers of Theragen Bio. are collabo...
    Speaker: Kyung-Won Hong, PhD
    Presented at: APJ Virtual Genetic Solutions Tour 2020
    1
    APR 22, 2020 | 12:00 AM
    RNA-seq for the Detection of Gene Fusions in Tumors
    RNA-seq for the Detection of Gene Fusions in Tumors
    In this presentation Dr. Kevin Halling describes the use of RNA-seq testing for identifying clinically significant gene fusions in tumors that can be used to help establish diagnosis and gui...
    Speaker: Kevin Halling, MD, PhD
    Presented at: Genetics Week Virtual Event Series 2020
    1
    APR 10, 2019 | 10:30 AM
    A Sample to Insight Solution for Detection and Classification of Challenging Pathogenic BRCA Mutations
    A Sample to Insight Solution for Detection and Classification...
    The BRCA1 and BRCA2 genes represent the best examples of the modern understanding of cancer molecular genetics. Testing for germline and somatic mutations in BRCA 1/2 has gradually become com...
    Speaker: Anika Joecker, PhD , Jennifer Poitras, PhD
    Presented at: Molecular Diagnostics Virtual Event Series 2019
    Sponsored By: QIAGEN
    5
     
     
  • NOV 15, 2018 | 12:00 PM
    Better Knowledge, Better Care: Precision Medicine for Any Cancer, Any Assay, on Your Platform
    Better Knowledge, Better Care: Precision Medicine for Any Cancer,...
    QIAGEN helps your team focus on the opportunities, not the obstacles, with an end-to-end clinical testing solution. During this talk, we will present a lung cancer case study to show how QIAG...
    Speaker: Raed Samara, PhD , Dan Richards, PhD
    Presented at: Clinical Diagnostics & Research Virtual Event Series 2018
    Sponsored By: QIAGEN
    2
    NOV 14, 2018 | 12:00 PM
    Automated Variant Classification in QIAGEN Clinical Insight Shows Near Perfect Concordance with ClinVar Expert Panel Assessments
    Automated Variant Classification in QIAGEN Clinical Insight Shows...
    As the compendium of putatively disease causing variants expands, gathering the most current and accurate information is critical to computing variant classifications. The QIAGEN knowledgebas...
    Speaker: Jennifer Poitras, PhD
    Presented at: Clinical Diagnostics & Research Virtual Event Series 2018
    Sponsored By: QIAGEN
    1
    OCT 25, 2018 | 8:00 AM
    Disease modeling and cancer therapy in stem cell-derived 3D organoid systems
    Disease modeling and cancer therapy in stem cell-derived 3D organoid...
    DATE: October 25, 2018TIME:  08:00am PDT, 11:00am EDT While the significance of the microbiome is unprecedented, a thorough study to dissect the role of individual popul...
    Speaker: Devanjali Dutta, PhD
    Sponsored By: Thermo Fisher Scientific/Gibco
    7 1
    MAY 09, 2018 | 12:00 PM
    Using Genome Wide Sequencing to Identify a Gene-Gene Interaction
    Using Genome Wide Sequencing to Identify a Gene-Gene Interaction
    In this presentation I will describe results from a family study designed to identify the genetic cause for familial clustering of several early onset cancers.   Data from next generatio...
    Speaker: Christopher I Amos, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2018
    1
    MAY 09, 2018 | 7:30 AM
    C.E. CREDITS
    Keynote Presentation: Informing Clinical Interpretations of Structural Chromosome Rearrangements:  Implementing Evolving Knowledge from Chromatin Structure
    Keynote Presentation: Informing Clinical Interpretations of Structural...
    The arrangement of chromatin inside the nucleus has long been recognized as a key element in genomic stability and an active participant in transcriptional control. With the development and d...
    Speaker: Cynthia Morton, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2018
    3
     
     
  • APR 12, 2018 | 7:30 AM
    Keynote Presentation: Molecular Testing for Hereditary-Familial Prostate Cancer and for Risk Assessment in Localized Disease
    Keynote Presentation: Molecular Testing for Hereditary-Familial...
    Prostate cancer is one of the most common cancers in men and a major health issue in the US and Worldwide.  Until recently, prostate cancer was not felt to be a hereditary disease.  ...
    Speaker: Judd W Moul, MD, FACS
    Presented at: Molecular Diagnostics Virtual Event Series 2018
    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
    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
    JUL 20, 2017 | 8:00 AM
    WEBINAR: Application of targeted next-generation sequencing (NGS) panels in neurodevelopmental disorder research
    WEBINAR: Application of targeted next-generation sequencing (NGS)...
    DATE: July 20, 2017TIME: 8:00am PT, 11:00am ET, 5:00pm CESTNeurodevelopmental disorders (NDDs) are clinically and etiologically highly heterogeneous and are characterized by a...
    Speaker: Alessandra Murgia , Francisco Hernandez-Guzman
    Sponsored By: Thermo Fisher Scientific - Ion Torrent
    5
    MAY 11, 2017 | 10:30 AM
    C.E. CREDITS
    Functional Characterization of Gene Regulatory Elements
    Functional Characterization of Gene Regulatory Elements
    Nucleotide variation in gene regulatory elements is a major cause of human disease. Despite continual progress in the cataloging of these elements, little is known about the code and grammati...
    Speaker: Nadav Ahituv, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2017
    1
     
     
  • MAY 09, 2017 | 8:00 AM
    WEBINAR: Deafness in the Genomic Era: Discoveries, Challenges and Opportunities
    WEBINAR: Deafness in the Genomic Era: Discoveries, Challenges...
    DATE: May 9, 2017TIME: 8:00am PT, 11:00am ETHearing loss is the most common sensory defect in humans. It affects 360 million people worldwide and by 2020, that number is predi...
    Speaker: Hela Azaiez, PhD
    Sponsored By: Agilent
    11 8
    APR 12, 2017 | 7:30 AM
    Keynote Presentation - Variant interpretation in Molecular Diagnostics: Challenges and Knowledge Gaps
    Keynote Presentation - Variant interpretation in Molecular Diagnostics:...
    As next generation sequencing has lowered the price of DNA sequencing orders of magnitude below what it cost to create the first consensus human genome, the sheer diversity of human sequence...
    Speaker: Robert Nussbaum MD, FACP, FACMG
    Presented at: Molecular Diagnostics Virtual Event Series 2017
    5
    NOV 02, 2016 | 6:00 AM
    Fast and easy identification of disease causing variants in hereditary diseases using patient phenotype information and testing for different modes of inheritance
    Fast and easy identification of disease causing variants in hereditary...
    Whole genome and exome sequencing is being widely used to identify disease-causing variants in patients with hereditary and rare diseases. Discovering the true disease-causing variants often...
    Speaker: Anika Joecker, PhD
    Presented at: Clinical Diagnostics & Research Virtual Event Series 2016
    3
    MAR 22, 2016 | 9:30 AM
    Tales from the Clinic
    Tales from the Clinic
    Medical genetics is a specialty of medicine that encompasses patients at all ages (prenatal, pediatric, adult), as well as all organ systems. As the genetic causes of more diseases have been ...
    Speaker: Fuki Hisama, MD, FACMG, FAAN , Eric Konnick, MD, MS , Laura Amendola, MS CGC
    Presented at: GENETICS IN YOUR CLINIC: WHAT YOU CAN AND SHOULD DO NOW
    3
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