About Authors
Dr Raymond A. Clarke, PhD
Head Autism Genetics Research Group
Ingham Institute for Applied Medical Research
Discipline of Psychiatry, University of New South Wales
ORCID: 0000 0002 7196 9623
The advanced techniques and experimental models employed by Dr Clarke’s Autism Genetics Research Group at the Ingham Institute provide insight into how changes in genes and proteins increase the risk of Autism and its comorbidities and how this risk can be reversed or reduced using genetic based molecular medicines.
Dr Raymond A. Clarke:
- Was a member of the Research Group that first established ATM as a breast cancer tumour suppressor gene and first to demonstrate the dominant negative interference effects of the ATM protein in breast cancer.
- Lead Scientist in the Research Group that 1st identified the gene GDF6 causing familial spinal birth defects in Klippel-Feil syndrome.
- Identified the NTSC mutation hot spot that causes Tourette syndrome which in turn identified the most compelling genetic link between Autism and Tourette syndrome.
- Identified the TOSPEAK gene that regulates the evolutionary development of the larynx and speech through transcriptional interference.
- Developed the Immp2lKD KO mouse model for autism with its changes in respiration, mitochondrial dynamics, metabolism, dopamine gene regulation and expression and behaviour.
Dr. Khawar Sohail Siddiqui, PhD
Dr. Siddiqui completed his Ph.D. (1990) from the Imperial College of Science, Technology and Medicine, London UK under the tutelage of Prof. Brian Hartley, FRS, a pioneer in developing techniques in protein/enzyme sciences. Khawar established a protein/enzymology lab at the National Institute of Biotechnology & Genetic Engineering, Faisalabad, Pakistan Atomic Energy Commission where he researched biofuels. He trained manpower in protein chemistry at a Pharmaceutical Company (SPIMACO) in Riyadh, Saudi Arabia where he worked on the human hormone, erythropoietin. Dr Siddiqui migrated to Australia and spent the next 14 years working on the structure-function-stability and bioinformatics of thermally-adapted psychrophilic proteins/enzymes at the University of New South Wales (UNSW), Sydney. From 2014-2019, he worked at the Life Sciences Department, King Fahd University of Petroleum and Minerals, Dhahran, KSA as an Associate Professor working on the structure-function and bioinformatics of plant proteins and enzymes in collaboration with the Luxembourg Institute of Science and Technology.
He has been invited twice to write for the prestigious Annual Reviews (cited 919 times) and Biotechnology Advances Journals. The review he wrote in 2019 for the Biotechnology Advances on the Click Chemistry for protein site-specific modification later won the 2022 Nobel Prize for American inventors. Based on his research contributions in the field of protein-structure-function, he was invited on two occasions by the high-impact journals, ‘Biotechnol. Advances‘ and ‘Crit. Rev. Biotechnol.,’ to write reviews as the sole author. Both publications have been cited more than 130 times. He has actively participated in international research collaborations and published over 75 research papers with 5368 citations, and an H index of 32.
http://scholar.google.com/citations?user=iyUkULcAAAAJ&hl=en.
He has also co-edited a technical book on extremophilic enzymes (Nova Science Publishers, NY, USA). He has also published three short story books on science fiction and animal fairy tales in 2023. He contributed to seven research and two equipment grants.
Dr Siddiqui is currently working at UNSW on the enzymology and structure-function and bioinformatics of mouse autistic models and the isolation of efficient enzymes to produce the glutathione precursor. In collaboration with UCL, London, he is also using in silico protein-ligand docking tools to identify phytochemicals for the inhibition of SARS COVID-19 main protease.
Dr Siddiqui is an expert in the sequence-structure-function relationships of proteins and enzymes. He utilizes bioinformatics tools such as protein homology modelling, protein structure prediction using Alphafold, and protein-ligand docking. In addition to bioinformatics, he employs chromatography, electrophoresis, spectroscopy, and calorimetry in his research. Specifically, he has used isothermal titration calorimetry (ITC) and differential scanning calorimetry (DSC) to study protein-ligand interactions, enzyme kinetics, and protein-ligand stability.
Dr Tzipi Cohen-Hyams, PhD
Tzipi Cohen-Hyams is currently the Correlative Microscopy Facility (CMF) manager at the Ingham Institute for Applied Medical Research in Liverpool, a Conjoint lecturer, School of Clinical Medicine, UNSW Medicine & Health and a Conjoint lecturer, School of Medicine, Western Sydney University (WSU), Sydney.
Tzipi came to her present position at the Ingham in 2016. Tzipi completed her PhD in Materials Sci. and Eng. at the Technion-IIT, Israel. She then continued with postdoctoral research at UC Berkeley (Fulbright Fellowship) specialising in Li-Ion batteries and developing nanomaterials for solar cells applications using various microscopy techniques. After finishing the postdoc fellowship, she was appointed as the head of the Focus Ion Beam (FIB) lab at the Russell Berrie Nanotechnology Institute (RBNI), Technion R&D in Israel.
In 2016 Tzipi was appointed as the correlative microscopy facility at the Ingham Institute for Applied Medical Research. The Correlative Microscopy Group (CMG) uses advanced microscopy techniques to study disease processes at resolutions from the organ level down to the nanoscale. Research is focused on cell characterisation and the pathobiology of chronic inflammatory disease processes in renal fibrosis, retinal degeneration, and cancer. Correlative microscopy approaches are used to extract maximum information from routine pathology tissue samples using light and electron microscopy, immunocytochemistry, and time-lapse live cell imaging. We use fluorescent and nanoparticle probes to label cells and their surrounding matrix or microenvironment. This improvement in marker technology allows visualisation down to the single molecule level and will help us more fully understand cell behaviour. Our aim is to recognise the factors that produce pathological changes in single cells and look at how these events might be blocked to control disease processes. CMG implements new generations HRSEMs into anatomical pathology research and develops workflows to serve as a fundamental and versatile technique for diagnostics and cell biological investigation.
Tzipi has substantial experience, including providing academia and industry solutions to characterization, processing, and failure analysis with extra techniques to exploit, train, supervise, and support graduate and undergraduate students.
Dr Murray C. Killingsworth, PhD, FRMS, FFSc(RCPA)
Murray Killingsworth is currently Principal Scientist of the Electron Microscopy Laboratory, NSW Health Pathology (NSWHP) Liverpool, an Adjunct Professor in the School of Medicine, Western Sydney University (WSU) and a Conjoint Professor of the South Western Sydney Clinical Campuses, University of New South Wales (UNSW), Sydney.
Murray came to his present position with NSWHP in 1996. He obtained his PhD from the UNSW School of Pathology (now Medical Sciences) in 1989 based on ultrastructural studies of ageing and degeneration of the human retina.
In 2010 Murray accepted a Founding Fellowship of the Faculty of Science in the Royal College of Pathologists of Australasia. Since then he has become a member of the Board of Education (RCPA) as the inaugural Faculty of Science appointment and up until recently was Principal Examiner for Anatomical Pathology in the Faculty of Science (RCPA). In 2018 Murray was awarded the Lady Mary Fairfax Distinguished Researcher Award.
In 2015 Murray founded the Correlative Microscopy Facility (CMF) at the Ingham Institute. The CMF is a first-in-Australia initiative supported by the Cancer Institute of NSW, UNSW Sydney, WSU and NSWHP with the mission to apply correlative microscopy principles in cancer cell biology and pathology. The CMF uses advanced microscopy techniques to study disease processes at resolutions from organ level down to the nanoscale. Research is focused on cell characterisation and the pathobiology of chronic inflammation and degenerative processes in renal fibrosis, retinal degeneration and cancer. Nanoparticle-based correlative light and electron microscopy (CLEM) approaches are used to extract maximum information from routine pathology tissue samples and to develop new biopsy and testing strategies for the clinic.
His long term studies in the pathogenesis of age-related macular degeneration (AMD) have positioned him as a global leader in this field. His research papers in AMD (discipline Ophthalmology) are in the top journals of this field including Eye (Nature Publishing) and Ophthalmology. He has18 articles that are performing well above average based on Journal Normalized Citation Impact data. His h-index is currently 39.
