Brac Conference on Genetics

Zoran Budimilija reports on the proceedings of the Ninth Conference of the International Society of Applied Biological Sciences (ISABS) in Forensic, Anthropologic and Medical Genetics and Mayo Clinic Lectures in Translational Medicine, held from 22 to 26 June in Bol, on the island of Brač in Croatia (www.isabs.hr).

The conference was the latest in a series of biennial events organized by the International Society for Applied Biological Sciences, which is dedicated to the promotion of applied molecular biology, in the presence of more than 500 participants from all over the world. This year’s program focused on Next Generation Sequencing (NGS) in forensics, DNA investigative intelligence, and advances in forensic DNA routine, as well as anthropology genetics concerning ancient and modern human genome history, and the human genetic history of the continents.

The work of ICMP was presented at the Conference by Dr. Thomas Parsons, Director of ICMP’s Forensic Science Division (FSD), and Dr. Zoran Budimlija, FSD Training coordinator and QA/QC Deputy Manager, and by Sabina Taslaman, FSD Deputy Training coordinator, and Šejla Idrizbegović, MS, DNA analyst and Deputy DNA validation and development coordinator.

Dr. Parsons chaired the session Advancements in Forensic DNA Routine on 26 June, and gave a talk entitled Brought to light 20 years after: recovery and identification of victims of Srebrenica”.

Dr. Parsons spoke about the work of ICMP to “conduct a massive forensic science effort to recover and identify the victims, in an integrated program of forensic archaeology, anthropology, pathology, DNA and informatics,” and he noted that “using a DNA-led approach of large scale nuclear STR typing of degraded skeletal remains and family members of the missing, with custom DNA matching software, ICMP to date has issued DNA matches on over 6,800 Srebrenica victims, and performed over 10,200 DNA-based re-associations of fragmented skeletal remains. ICMP’s findings have been extensively entered into evidence in multiple prosecutions at the ICTY, including the ongoing trials of Ratko Mladić and Radovan Karadžić.”

Special attention at the conference was paid to the forensic applications of Next Generation Sequencing [NGS] (also known as Massive Parallel Sequencing [MPS]).

Jennifer Churchill of the University of North Texas told the Conference that “The introduction of MPS technologies is beginning to have an impact on the forensic science community’s approach to DNA typing. After almost a decade of advances and improvements to MPS platforms and methods, these technologies offer notable improvements to forensic identification’s current capillary electrophoresis (CE)-based methodologies. MPS’ ability to multiplex different types of forensically relevant genetic markers, analyze a large number of markers simultaneously, and sequence multiple samples per run allows more information for generation of investigative leads to be obtained per sample in a single analysis than can be obtained with standard CE technologies. The additional types of markers can facilitate the analysis of degraded and low quantity samples as well as address novel investigative questions.”

The application of MPS – NGS was considered in the context of DNA based human identification in disaster victim and missing persons identification, repatriation of war dead and counter-terrorism operations.

The application of the newest technologies was discussed in depth regarding the strategy of the analysis of mitochondrial DNA (maternally inherited, very robust DNA that is crucial in the analysis of very degraded biological samples), and Y chromosome related inheritance (paternally inherited), as well as differentiation of cellular and tissue types left behind by the source of DNA, approximation of the age of biological samples analyzed, and determination/prediction of phenotypical (visible) characteristics of the person based on DNA analysis.

“Recent years have seen considerable progress in the genetic understanding of human appearance, which triggered the establishment of a new subfield of forensic genetics, i.e., Forensic DNA Phenotyping,” Manfred Kayser of the Erasmus University Medical Center concluded. “Forensic DNA Phenotyping refers to the prediction of appearance traits of unknown sample donors, or unknown deceased (missing) persons, directly from biological materials found at the scene. ‘Biological witness’ outcomes of Forensic DNA Phenotyping can provide investigative leads to trace unknown persons, who are unidentifiable with current comparative DNA profiling. Appearance prediction from DNA of old and ancient human remains is also relevant to answer anthropological and evolutionary questions. At present, group-specific pigmentation traits (eye, hair, and skin color) are predictable from DNA on the level of broad categories with reasonably high accuracies allowing practical applications in forensics and anthropology. For some other externally visible characteristics such as body height, hair loss, hair structure, or facial shape, progress is made in finding more and more underlying genes, while the predictive power of the currently known DNA predictors for such genetically highly complex traits is not yet enough for practical applications, requiring extensive genetic research.”