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Forensic Medicine

Research Focus
Research
Selected Publications
Selected Funding, Collaboration

Keywords: Forensic Genomics, Genetic Identification, Next Generation Sequencing, Cell line Identification, Forensic DNA Phenotyping, Disaster Victim Identification, Forensic Toxicology, Drug Screening, Therapeutic Monitoring, Metabolomics
Research (ÖSTAT Classification) : 301206, 301902, 106006, 30110, 106041

Research Focus

The Institute of Legal Medicine (GMI) at the Medical University of Innsbruck is home to the Austrian Central DNA Laboratory established in 1997. It represents Austria in the European DNA Profiling Group (EDNAP), the Network of Forensic Science Institutes (ENFSI) and the Interpol Monitoring Expert Group (MEG). GMI has a strong focus on technology-based projects involving electrophoresis, real-time PCR, mass spectrometry and massive parallel next-generation sequencing (MPS) strategies. GMI is repeatedly assigned to handle international casework requests, some of which have received international media attention, such as identification of the 2004 South Asian tsunami victims (Sri Lanka), the missing children of the Russian imperial Romanov family, the 1973 victims of the regime in Chile, the 2014 students missing from Ayotzinapa in Mexico, and various international crime cases.

GMI is home to the mitochondrial (mt)DNA database EMPOP (https://empop.online/), which has become the primary reference source for forensic mtDNA databasing and quality control of mtDNA data over the years. GMI also hosts the autosomal STR database STRidER, which provides freely available, quality-controlled STR allele frequencies to the scientific community (https://strider.online/). Both database projects are key players in several related international initiatives and consortia (STRAND, STRSeq, DNASEQEX, SeqForSTRs, MitoBench).

Furthermore, GMI has proven experience in the assay design and development of MPS tools for archaeo-forensic applications (e.g. Parson et al. 2018) and initial validation of mtDNA MPS applications on Ion Torrent platforms (e.g. Strobl et al. 2020). With new tools (e.g. Madel et al. 2016, Xavier et al. 2019), the research group has made significant improvements in fighting crime and in the field of non-human DNA (e.g. Berger et al. 2019). A prominent research focus was on forensic DNA phenotyping to predict appearance, age and ancestry of an unknown sample from DNA (e.g. Xavier et al. 2020, Heidegger et al. 2020).

GMI is host to the core facility of Metabolomics.

Research

Increasing the Crime-Fighting Success Rate Through Technological Improvements
Walther Parson

The institute plays a key role internationally in addressing relevant issues in forensic human identification by means of modern molecular genetic techniques.

Introducing Mitogenome MPS to Solve Challenging Crime Scene Samples
Walther Parson

The institute leads international research to maximise forensically relevant information content from the mitochondrial DNA sequencing of unknown samples (crime scenes and mtDNA EMPOP databasing) using MPS technologies.

Forensic DNA Phenotyping: Providing Evidentiary Leads by Predicting Externally Visible Characteristics and Bio-Geographical Origin Using DNA Analysis
Walther Parson

Without a reference (e.g. suspect), unknown perpetrators of crime cannot be identified from the current forensic use of DNA. We overcome this major limitation by developing molecular tools to predict appearance, age and ancestry from DNA traces. This allows the construction of composite sketches of unknown trace donors directly from the DNA traces left at crime scenes.

STRidER – STRs for Identity ENFSI Reference Database
Martin Bodner

The institute hosts STRidER, which acts as a worldwide frequency database, quality control authority and software platform for the development of novel tools for the most widely used forensic DNA markers (autosomal STRs).

Complex Pedigrees
Martin Bodner

The institute has contributed to the resolution of complex kinship cases by employing modern DNA methods.

Exposomics and Human Biomonitoring
Herbert Oberacher

The institute is involved in international research projects that aim to develop advanced analytical technology for the detection of pollutants and toxins in biological and environmental samples.

Wastewater Epidemiology
Herbert Oberacher

Wastewater-based epidemiology is a rapidly developing scientific discipline with the potential to monitor real-time data on geographical and temporal trends in exposure to chemicals and pathogens. It involves analysis of the influent to a wastewater treatment plant.

Systematic Toxicological Analysis (STA)
Herbert Oberacher

 STA is defined as the application of an adequate analytical strategy for the detection and identification of the greatest possible number of potentially toxic compounds and their metabolites in biological samples. It is an integral part of the medicolegal examination of drug consumption and poisoning. To maximise the forensically relevant information obtained from casework samples, we are developing new and advanced workflows for STA.

Selected Publications

Increasing the Success-rate for Combating Crime through Technological Improvements

  • Madel M et al. (2016) TriXY—Homogeneous genetic sexing of highly degraded forensic samples including hair shafts. Forensic Sci Int Genet 25: 166–174
  • Berger B et al. (2019). Forensic characterization and statistical considerations of the CaDNAP 13-STR panel in 1,184 domestic dogs from Germany, Austria, and Switzerland. Forensic Sci Int Genet 42:90–98.
  • Xavier C et al. (2019) SD quants-Sensitive detection tetraplex-system for nuclear and mitochondrial DNA quantification and degradation inference. Forensic Sci Int Genet 42:39–
  • Müller P et al. (2020). Inter-laboratory study on standardized MPS libraries: evaluation of performance, concordance, and sensitivity using mixtures and degraded DNA. Int J Legal Med 134:185–198.

Introducing Mitogenome MPS to solve Challenging Crime Scene Samples

  • Strobl C et al. (2018) Evaluation of the precision ID whole MtDNA genome panel for forensic analyses. Forensic Sci Int Genet 35:21-25
  • Huber N et al. (2018) Next generation database search algorithm for forensic mitogenome analyses. Forensic Sci Int Genet 37:204-214
  • Marshall C et al. (2020) Pathogenic Variant Filtering for Mitochondrial Genome Haplotype Reporting mtDNA Whole Genome Panel. GENES 11:1140

Forensic DNA Phenotyping: Providing Evidentiary Leads by Predicting Externally Visible Characteristics and Bio-geographical Origin by DNA Analysis

  • Parson W (2018) Age Estimation with DNA: From Forensic DNA Fingerprinting to Forensic (Epi)Genomics: A Mini-Review. Gerontology 64(4):326-332
  • Xavier C et al. (2020) Development and validation of the VISAGE AmpliSeq basic tool to predict appearance and ancestry from DNA. Forensic Sci Int Genet 48: 102336
  • Heidegger A et al. (2020) Development and optimization of the VISAGE basic prototype tool for forensic age estimation. Forensic Sci Int Genet 48: 102322
  • Palencia-Madrid L et al. (2020) Evaluation of the VISAGE Basic Tool for Appearance and Ancestry Prediction Using PowerSeq Chemistry on the MiSeq FGx System. GENES 11: 708

STRidER – STRs for Identity ENFSI Reference Database

  • Gettings KB et al. (2017) STRSeq: A catalog of sequence diversity at human identification Short Tandem Repeat loci. Forensic Sci Int Genet 31:111-117
  • Bodner M and Parson W (2020) The STRidER Report on Two Years of Quality Control of Autosomal STR Population Datasets. GENES 11: 901

Complex Pedigrees

  • Perego UA et al. (2019) Resolving a 150-year-old paternity case in Mormon history using DTC autosomal DNA testing of distant relatives. Forensic Sci Int Genet 42:1-7

Exposomics and Human Biomonitoring

  • Oberacher H et al. (2020) A European proposal for quality control and quality assurance of tandem mass spectral libraries. Environ Sci Eur 32 (1):43.
  • Pourchet M et al. (2020) Suspect and non-targeted screening of chemicals of emerging concern for human biomonitoring, environmental health studies and support to risk assessment: From promises to challenges and harmonisation issues. Environ Int 139.
  • Oberacher H et al. (2019) Annotating Nontargeted LC-HRMS/MS Data with Two Complementary Tandem Mass Spectral Libraries. Metabolites 9 (1):3.

Wastewater Epidemiology

  • Reinstadler V et al. (2021) Monitoring drug consumption in Innsbruck during coronavirus disease 2019 (COVID-19) lockdown by wastewater analysis. Science of The Total Environment, 757: 144006.
  • Gonzalez-Marino et al. (2020) Spatio-temporal assessment of illicit drug use at large scale: evidence from 7 years of international wastewater monitoring. Addiction 115 (1):109-120.
  • van Nuijs ALN et al. (2018) Multi-year inter-laboratory exercises for the analysis of illicit drugs and metabolites in wastewater: Development of a quality control system. TrAC Trends in Analytical Chemistry 103:34-43.

Systematic Toxicological Analysis (STA)

  • Reinstadler V et al. (2019) A validated workflow for drug detection in oral fluid by non-targeted liquid chromatography-tandem mass spectrometry. Anal Bioanal Chem 411 (4):867-876.

Selection of Funding

  • European Project: DNAxs 2.0 - Developing DNAxs2.0: the next generation DNA eXpert System accommodating DNA profile matching, mixture interpretation and statistical analysis with validation and dissemination across Europe; ISFP-2017-AG-FORENSIC
  • Forensics, 820838. 2018-2020. MUI was responsible for validation of software tools.
  • European project: VISAGE - VISible Attributes Through Genomics. European Union Horizon 2020 Research & Innovation programme; Grant 740580. 2017-2021. MUI is working package leader and developing and validating molecular genetic tools for DNA Phenotyping.
  • European Project: INFER - Introduction of forensic genomic tools for estimating Appearance, Ancestry and Age. Grant IZ25-5793-2019-40. 2020-2022. MUI is co-supervising the project.
  • European Project: OCSEAN - Oceanic and Southeast Asian Navigators (Marie Skłodowska - Curie Research and Innovation Staff Exchange - RISE). Grant 873207. MUI is serving as technological partner to the consortium and performing DNA analyses.
  • H2020: HBM4EU, 2017-2021.
  • Tiroler Innovationsförderung: Entwicklung und Anwendung eines GC-Hochtemperatur-PTRMS. 2018-2019.

Collaborations

EDNAP, ENFSI, SWGDAM, SCORE

Devices & Services

 Core Facility Metabolomics
Herbert Oberacher

 The mission of the Core Facility Metabolomics is to serve as an enabling resource for research and development programs at the Medical University of Innsbruck. We aim to provide expertise and state-of-the-art technologies for the qualitative and quantitative analysis of small bioorganic molecules. Common targets are drugs, pharmaceuticals, endogenous compounds, and metabolites thereof included in all kinds of biological samples (e.g. biofluids, cells, tissues).

o.Univ.-Prof. Dr.med.univ. Richard Scheithauer
Director
Contact:
Müllerstraße 44
6020 Innsbruck
Austria
E-mail: gmi@i-med.ac.at 
Phone: +43 512 9003 70600
Fax:       +43 512 9003 73600
www.gmi.eu

Research Report