Prof. Deon Venter is a pathologist and molecular geneticist who has spent his career in the diagnostic medical space, utilising the interface between basic science and conventional pathology practice to address unmet diagnostic needs.
Prof. Venter’s diagnostic pursuits have included using whole genome sequencing to solve stillbirth cases; the development of a novel molecular genetic test for sepsis and the use of MALDI Mass Spec to implement the rapid biotyping of bacteria in the microbiology laboratory. He has utilised imaging mass spectrometry in a range of collaborations involving the structure and evolution of venoms and venom glands in diverse phyla. Prof. Venter has also consulted for multiple commercial entities. He is currently doing neuropathology in Sydney, Australia.
Title: “Emerging neuropathology diagnostics: genetic scaffolds, phenotypes and advanced imaging.”
The field of neuropathology diagnostics has benefited from significant advances in our understanding of the molecular bases of nervous system diseases. These diverse disorders range from neoplasias to complex dementia and motor degenerative syndromes. For example, understanding the molecular underpinnings of CNS diseases has resulted in novel classifications of many different tumour types, providing diagnoses based on the molecular, as well as the morphological attributes of the tumour. Most importantly, understanding the molecular basis of CNS tumours has facilitated more focused clinical trials and highlighted novel therapeutic options.
The discovery of genetic variants associated with the neurodegenerative disorders, including many dementia syndromes, has provided a stronger rationale for synthesising a biologically-based classification system that will provide clinically and prognostically-relevant diagnostic categories.
These bio-genetic frameworks for enabling disease diagnostics are now in the process of being integrated with novel imaging methods, some of which are increasingly providing molecular information that is complementary to the bio-genetic parameters.
The interplay between these new CNS diagnostic disciplines will be explored and their impact on LIMS requirements now and in the future will be addressed.