• Dr Abhijit Kulkarni

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

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    Dr Abhijit Kulkarni

    Chief 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 Kym Mina

    Genetic Pathologist
    MBBS, PhD, FRCPA, AFRACMA

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    Dr Kym Mina

    Genetic Pathologist
    MBBS, PhD, FRCPA, AFRACMA

    Dr Kym Mina is a senior Genetic Pathologist with experience in both molecular genetics and cytogenetics. Since attaining her Fellowship with the RCPA, she has had roles including Pathologist Lead in translation of whole exome sequencing to clinical practice, Clinical Academic at The University of Western Australia (UWA), and Clinical and National Director in private pathology. Currently, Dr Mina is employed as a Consultant Genetic Pathologist for the WA Department of Health, PathWest Laboratory Medicine WA and Genomic Diagnostics, Healius Pathology.

    Dr Mina is the current Chair of the Royal College of Pathologists of Australasia (RCPA) Genetics Advisory Committee, is on the Board of the RCPA, and chairs the RCPA Diversity, Equity, and Inclusion Working Group. She is involved in national committees and activities that promote quality provision of genomic testing and is a Technical Assessor for NATA and IANZ.  Dr Mina also holds a teaching position with UWA, supervises Genetic Pathology trainees, and is an RCPA Examiner for Genetic Pathology.

  • Dr Edward Chew

    Molecular Haematopathologist
    MBBS, FRACP, FRCPA, PhD

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    Dr Edward Chew

    Molecular Haematopathologist
    MBBS, FRACP, FRCPA, PhD

    Dr Edward Chew is a clinical and laboratory haematologist with Fellowships from the Royal Australasian College of Physicians (RACP) and Royal College of Pathologists of Australasia (RCPA). He has Extended Scope of Practice in Molecular Genetics (Haematology – FISH, cytogenomics and targeted panel testing). His passion for genetics started with his B Med Sci on mouse QTL testing and continued with a PhD at The Walter and Eliza Hall Institute of Medical Research. During his PhD, he identified a novel inherited predisposition to haematological and solid cancers (MBD4-associated neoplasia syndrome) that was included in the 5th Edition WHO Genetic Tumour Syndromes.

    He is committed to improving our understanding of genetic diseases and advocating for genetic testing on individual and population levels. To that end, he is a member of national and international societies, including as a Biocurator for the National Institutes of Health (NIH) ClinGen Myeloid Malignancy Variant Curation Expert Panel. He is an RCPA National Examiner (Haematology) and a member of the RCPA Haematology Advisory Committee.

  • 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 Mark Williams

    Chief Scientist
    PhD, FHGSA

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    Dr Mark Williams

    Chief Scientist
    PhD, FHGSA

    Dr 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. He has recently completed his PhD thesis entitled, “Novel variants in Angelmann 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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