U.S. flag
      An official website of the United States government, Department of Justice.
        Here's how you know
      Here's how you know**Official websites use .gov**
            
            A **.gov** website belongs to an official government organization in the United States.
      **Secure .gov websites use HTTPS**
            
            A **lock** (
            A locked padlock
            ) or **https://** means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites. Menu

      
        close

            
            
                                              About NIJ
        
                    
  
          About NIJ
      
    
          The NIJ Director
          How NIJ Is Organized
          Mission and Guiding Principles
          Research and Development Process
          Strategic Framework
          Assessments of NIJ
          Annual Reports & Reports to Congress
          Staff Directory
          Funding & Awards
        
                    
  
          Funding & Awards
      
    
          Current Funding
          Forthcoming Funding
          Expired Funding
          Awards: Listing of Funded Projects
          Guidance for Applicants and Awardees
          Fellowship & Student Programs
          Travel Scholarships
          NIJ Challenge Program
          Library & Multimedia
        
                    
  
          Library & Multimedia
      
    
          NIJ Journal
          Podcasts
          Publications Listing
          Multimedia Listing
          Rated Practices on CrimeSolutions
          Rated Programs on CrimeSolutions
          Software & Databases
          Datasets
          Patents
          Topics
        
                    
  
          Topics
      
    
          Article Listing
          Corrections
          Courts
          Crime Prevention
          Crimes
          Drugs and Crime
          Equipment and Technology
          Forensic Sciences
          Youth Justice
          Justice System Reform
          Law Enforcement
          Tribal Crime and Justice
          Victims of Crime
          Events
        
                    
  
          Events
      
    
          NIJ 2024 Research Conference
          Scheduled Events
          On-Demand Events
          Research Meetings & Workshops
          NIJ-Hosted Online Training

                            
                                About
          Contact Us
          Subscribe
          Topics A-Z
                  Share
FacebookXLinkedInRedditPinterestEmail Home
                            Funding & Awards
 Advancing Molecular Diagnostics in Sudden Unexplained Deaths
Award Information
Awardee
              City of New York, Office of Chief Medical Examiner
Award #
              2014-DN-BX-K001
Funding Category
              Competitive
Location
                    New York, NY
Congressional District
              11
Status
              Closed
Funding First Awarded
              2014
Total funding (to date)
              $540,178
Original Solicitation
              NIJ FY 14 Research and Development in Forensic Science for Criminal Justice Purposes
Description of original award (Fiscal Year 2014, $540,178)
As submitted by the proposer: 
The concept of molecular autopsies has been proposed for more than a decade. However, a systematic molecular evaluation of Sudden Unexplained Death (SUD) cases, for which the causes of death remain undetermined after comprehensive forensic investigation, complete autopsy, and various ancillary laboratory tests (e.g. toxicology and microbiology tests), has not been feasible until the advent of next-generation sequencing (NGS) technology. This powerful molecular diagnostic tool is being used in our NIJ FY2011 Basic Research Grant project (2011-DN-BX-K535), which aimed to evaluate 114 genes in a large SUD cohort. Our basic research results have shown that over 40% of SUD cases are expected to have identifiable molecular defects either causing or contributing to the death when comprehensive molecular testing is performed. This is a significant improvement over the current 10 to 15% positive rate obtained by testing only six major cardiac channelopathy genes using the traditional Sanger Sequencing method. 

Through this grant application, we aim to directly translate the first-hand knowledge gained from our basic research into applied research via the following two objectives: 1) validate a molecular testing panel specifically targeting underlying molecular defects in SUD, using samples routinely collected at New York City Office of Chief Medical Examiner (NYC OCME), such as RNALater® fixed tissue and blood spot card samples; and 2) validate the SUD-specific molecular test panel for commonly collected, yet technically challenging, postmortem samples, including formalin-fixed (FF), formalin-fixed paraffin-embedded (FFPE), embalmed, and decomposed/degraded tissue samples. The focus of this grant project is to measure the analytical performance of the testing method (e.g. sensitivity, specificity, reproducibility, and sample input range) and to evaluate a feasible bioinformatic pipeline for high throughput NGS data analysis and genetic variant reporting. 

This project will be carried out within the Molecular Genetics Laboratory at NYC OCME, a College of American Pathologists (CAP)-accredited laboratory, using existing laboratory equipment and by residing scientists who possess a wealth of knowledge and skill, which were further enhanced through their direct involvement in the NIJ FY2011 Basic Research Grant project. 

As a result of this project, the quality of SUD investigation in NYC OCME will be drastically improved and provide answers to families and to the criminal justice system in cases for which no such answers previously existed. Ultimately, by disseminating our work through scientific presentations/publications and providing professional training to forensic pathologists/medicolegal investigators, we expect to help improve SUD investigation throughout the United States.
ca/ncf



  
Grant-Funded Publications
        
                      Advancing Molecular Diagnostics in Sudden Unexplained Deaths
                  Using postmortem formalin fixed paraffin-embedded tissues for molecular testing of sudden cardiac death: A cautionary tale of utility and limitations
                  Genetic Testing in Sudden Unexpected Natural Death in the Young: New York City Office of Chief Medical Examiner's Experience and Perspective
                  Phenotypic Variations in Carriers of Predicted Protein-truncating Ggenetic Variants in MYBPC3 an Autopsy-based Case Series
                  Functional characterization of TRPM4 variants identified in sudden unexpected natural death
                  Applying High-Resolution Variant Classification to Cardiac Arrhythmogenic Gene Testing in a Demographically Diverse Cohort of Sudden Unexplained Deaths
                  Holistic Approach to Determine Cause of Autopsy-Negative Sudden Natural Death

  
Date Created: September 4, 2014
    
          Side navigation
  

        

  
  
              Current Funding
    
      
            
            
            
      Forthcoming Funding
    
      
            
            
            
      Expired Funding
    
      
            
            
            
      Awards: Listing of Funded Projects
    
      
            
            
            
      Guidance for Applicants and Awardees
    
      
            
            
            
      Fellowship & Student Programs
    
      
            
            
            
      Travel Scholarships
    
      
            
            
            
      NIJ Challenge ProgramSimilar Awards
        
                      Nanoparticle-Decorated Micropillars As Integrated Raman Spectroscopy and Mass Spectrometry Substrates for Quantitative and High-Throughput Toxicology Drug Analysis
                  A 28-year longitudinal study of victimization and perpetration of violence in high-risk youth: Advancing the development of preventive interventions in the community
                  Quantitative and visual prediction of eye, hair and skin color from DNA
 Top

      National Institute of Justice

        
        
                        About NIJ
                    About NIJ
      
    
                  How NIJ Is Organized
      
    
                  NIJ Director
      
    
                  Research Disclaimer
      
    
                  Funding & Awards
                    Funding & Awards Home
      
    
                  Awards Listing
      
    
                  Current Funding
      
    
                  Guidance for Applicants and Awardees
      
    
                  Resources
                    Events
      
    
                  Podcasts
      
    
                  Publications
      
    
                  Topics
      
    
                  Multimedia
      
    
                  Reuse Policy
      
    
                  Contacts
                    Contact NIJ
      
    
                  Staff Directory
      
    
                  Submit a FOIA Request
      
    
                  File a Civil Rights ComplaintFacebook
          
                      X
          
                      YouTube
  

      810 7th St. NW, Washington, D.C. 20531
      
              Secondary Footer link menu
            Accessibility
              Plain Language
              Privacy Policy
              Legal Policies and Disclaimer
              No FEAR Act
              Freedom of Information Act
              USA.gov
              Justice.gov