• Dr Kym Mina

    Director of Genomics
    MBBS, PhD, FRCPA

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    Dr Kym Mina

    Director of Genomics
    MBBS, PhD, FRCPA

    Dr Kym Mina is the Director of Genomics for the Pathology Division of Healius Limited. She began her journey in genetics in 2007 as WA’s first genetic pathology trainee, and was awarded her fellowship in 2012 having attained broad experience in both molecular and cytogenetics in laboratories in WA and NZ. Following a post-fellowship year in translation of whole exome sequencing to clinical practice, Dr Mina took up a Clinical Academic appointment at The University of Western Australia before moving to NSW as the Director of Genetics at Douglass Hanly Moir Pathology. Dr Mina commenced her journey with Healius Limited as the Clinical Director of Genomic Diagnostics, advancing into her current role in 2021.

    Dr Mina is the current Chair of the Royal College of Pathologists of Australasia’s Genetics Advisory Committee. She is involved in national committees and activities that promote quality provision of genomic testing. Dr Mina has longstanding involvement in teaching of undergraduate and postgraduate science and medical students and supervision of genetic pathology trainees, and is committed to providing education and support for the appropriate use of genomic testing in all aspects of medical practice.

  • Dr Abhijit Kulkarni

    Genetic Pathologist
    MBBS, MD, FRCPath (UK), FRCPA

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    Dr Abhijit Kulkarni

    Genetic Pathologist
    MBBS, MD, FRCPath (UK), FRCPA

    Dr Abhi Kulkarni is a genetic pathologist who obtained his medical degree in India before training in Montpellier, France and Hannover, Germany to obtain an ‘Advanced Diploma in Molecular Cytogenetics’ in 2004. In 2006 he moved to the UK to head a prenatal genetic service in London, and there was awarded fellowship of the Royal College of Pathologists, United Kingdom.  Dr Kulkarni was actively involved in the European Cytogenetics Association and headed a permanent working group, Molecular Cytogenetics. He was also involved in drafting national recommendations for the use of chromosome microarray in pregnancy and landmark research projects, including the introduction of NIPT onto the NHS, and the 100k genome project.

    Dr Kulkarni began his career in Australia as a Principal Scientist, Monash Pathology, Melbourne in 2015 from where he was awarded the prestigious Ed Krumins award and an honorary fellowship of the Human Genetics Society of Australasia. He began his training as a genetic pathologist in 2019, working at Monash Pathology, Melbourne and SA Pathology, Adelaide. He was awarded his FRCPA in 2021.

    Dr Kulkarni’s key areas of interest are reproductive medicine from preconception to birth, paediatric genetics, particularly growth and neurodevelopmental disorders, and hemoglobinopathies, and has a strong background in translational research and validation of new technologies and automation in diagnostic genetic medicine. He is passionately involved in educating and guiding medical scientists and genetic pathology trainees.

  • Dr Peter Taylor

    Molecular Geneticist, Scientific Director
    PhD, FHGSA

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    Dr Peter Taylor

    Molecular Geneticist, Scientific Director
    PhD, FHGSA

    Dr Peter Taylor is a Molecular Geneticist with solid training in general pathology prior to commencing specialisation in 1986. Peter’s clinical interests include oncogenetics and neuromuscular genetics. Early in his career, Peter performed research associated with the cloning of the estrogen receptor and its regulation and role in breast cancer at the University of New South Wales. Breast cancer genetics and the study of mutations associated with breast tumours has been an area of ongoing interest throughout his career. In his PhD thesis he reported the identification the cause of a newly described neuromuscular condition, determined the clinical utility of a comprehensive screening program for X-linked muscular dystrophy, and described the correlation between gene mutation location and cognitive defects in Duchenne muscular dystrophy. He has several highly read peer-reviewed papers and has contributed to numerous conference papers.

    Peter is a Fellow of the Human Genetics Society of Australia (FHGSA) was previous Chair for the Molecular Genetics Society of Australasia (2015-2017), and an examiner for the annual HGS Fellowship examinations. He is the Scientific Director for Molecular Testing at Genomic Diagnostics, Healius Pathology Pty Ltd, and his current role includes being the subject matter expert for the molecular genetics component of the Phoenix National LIS project.

  • Dr Nicole Chia

    Clinical Scientist, Genetics Manager
    PhD, FHGSA, FFSc (RCPA)

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    Dr Nicole Chia

    Clinical Scientist, Genetics Manager
    PhD, FHGSA, FFSc (RCPA)

    Dr Nicole Chia is a highly experienced clinical scientist, having begun working in the field of Clinical Cytogenetics in 1983. Nicole was awarded her PhD in 2016 and is a Fellow of the Royal College of Pathologists of Australasia’s Faculty of Science (FFSc., RCPA) and a Fellow of the Human Genetics Society of Australia (FHGSA). She is Adjunct Associate Professor in Diagnostic Pathology with the University of Canberra and Senior Lecturer at Queensland University of Technology.

     

    Nicole is Chief Scientist of the Genetics Department at Genomic Diagnostics and currently manages an Australian wide diagnostic Cytogenetic Service. She has an international reputation in the field of Clinical Cytogenetics including a role as consultant to the International Standing Committee on Human Cytogenetic Nomenclature and has been an invited speaker at numerous international and national meetings. Over the years Nicole has served on numerous Boards, including Chief Examiner and Chair of the Cytogenetics Board of Censors for the Human Genetics Society.

  • Mark Williams

    Chief Scientist
    FHGSA

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    Mark Williams

    Chief Scientist
    FHGSA

    Mark Williams is a clinical scientist and holds a Fellowship of the Human Genetics Society of Australasia (FHGSA) in Molecular Genetics. He is Chief Scientist at Genomic Diagnostics, leading a team providing NATA-accredited germline, somatic and reproductive genomic assays. Mark has over 20 years’ experience in diagnostic pathology and genomics in both public and private laboratories.

    Mark has a research appointment within the Developmental Disorders Group at Mater Research Institute-University of Queensland. Here, he is undertaking research relating to his PhD thesis entitled, “Novel variants in Angelman syndrome and related disorders: relationship to phenotype and neuronal function”.

    Mark is a member of the Human Genetics Society of Australasia (HGSA) Board of Censors, Diagnostic Genomics and is actively involved in the supervision of scientific and genetic pathology trainees. Mark has a clinical interest in improving patient care through translation and integration of genomic techniques into the clinical diagnostic laboratory.

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