Page 1 of 1
A/Prof. Robert W Davis
General Practitioner – Special Interest Developmental Disability Cornelia de Lange Prader Willi syndrome 22q Deletion syndrome Williams syndrome Tuberous Sclerosis Fragile X syndrome
Amy Piesse
Physiotherapist Duchenne muscular dystrophy (DMD) Becker’s muscular dystrophy (BMD) Leukodystrophy Mitochondrial disorder Bethlem myopathy
Associate Professor Aris Siafarikas
Paediatric Endocrinologist Perth Children’s Hospital, Department of Endocrinology and Diabetes, WA Bone and Mineral metabolism Vitamin D Exercise
Associate Professor Chris O'Callaghan
Medical Practitioner Ehlers Danlos Syndrome Marfan syndrome Stickler syndrome Loeys Dietz syndrome Dysautonomia
Associate Professor Ian Fraser
Associate Professor Ian Fraser Nephrologist Epworth HealthCare, Vic Polycystic Kidney Disease Diabetic nephropathy Glomerulonephritis
Associate Professor Leo Donnan
Associate Professor Leo Donnan Osteogenesis Imperfecta Multiple Hereditary Exostoses Multiple Epiphyseal Dysplasia Achondroplasia Polyostotic Fibrous Dysplasia Bone Dysplasia, hamartomas and dysplastic changes Royal Childrens Hospital Melbourne VicOrtho
Aura Cecilia Jimenez Moreno
Research Physiotherapist Myotonic Dystrophy type 1 Mitochondrial Disorders (paediatrics)
Bas Jansen
Physiotherapist 24 hour postural care – protection of body shape Seating / wheelchairs Supported lying Pressure care Disability
Catherine Nicholls
Molecular Geneticist and Medical Scientist Alpha and beta thalassaemia (HBA2, HBA1, HBB, HBD genes) Haemophilia A, B and C (F8, F9, F11 genes) von Willebrand disease (vWD and GP1B alpha genes) Factor VII deficiency (F7 gene) Protein C deficiency (PROC gene) Next generation sequencing panels for bleeding disorders
Chris Brennan-Jones
Audiologist Deafness and hearing loss Non-syndromic deafness (e.g. GJB2 mutation) Syndromic deafness (e.g. neurofibromatosis, Goldenhar, branchio-oto-renal syndrome, Poland syndrome, and Down syndrome)
Denise Luscombe
Consultant Physiotherapist Rett Syndrome Williams Syndrome Postural Care of children with physical disability
Dianne Webster
Clinical Scientist Newborn screening for rare disorders Antenatal screening for rare disorders
Douglas Crawford
Clinical Nurse Disease process / interventions Long term management of Fabry disease Patient and family support
Dr Amali Mallawaarachchi
Nephrology and Clinical Genetics Autosomal dominant polycystic kidney disease (ADPKD) Cystic kidney disease Renal genetic disorder
Dr Andrew Biggin
Dr Andrew Biggin Paediatric Endocrinologist Clinical Academic – Bone & Mineral Medicine Bone and mineral disorders Osteogenesis imperfecta Endocrine disorders
Dr Andrew Talbot
Fabry Disease Alport Syndrome Autosomal Dominant Tubulo-interstitial disease AD-PCKD Nephrologist
Dr Anne Ronan
Clinical Geneticist Inherited cardiac disorders Hereditary haemorrhagic telangiectasia (HHT) Huntington disease General clinical genetics
Dr Aron Chakera
Nephrologist Renal diseases Tubular disorders Polycystic kidney disease Glomerulonephritis
Dr Bradleigh Hayhow
Psychiatry Huntington disease Young onset dementias Neuropsychiatric manifestations of epilepsy Neuropsychiatric manifestations of movement disorders Autoimmune encephalopathies Autism
Dr Carolyn F Orr
Neurologist Cognitive / behavioural Neurology Alzheimer’s Disease Lewy Body disease Frontotemporal dementia Primary Progressive Aphasia Prion disease
Dr Cathy Franklin
Psychiatrist; Down syndrome, Prader-Willi syndrome, Fragile X syndrome, Velo-cardio-facial syndrome, Other syndromes associated with intellectual disability or autism, Mater Intellectual Disability and Autism Service
Dr Colin Derrick
Consultant paediatrician Developmental delay, ADHD, ASD, Fragile X, Rubinstein taybi Rasopathy
Dr Daman Langguth
Clinical Immunologist and Immunopathologist Antineutrophil cytoplasmic antibodies (ANCA) Vasculitis Giant cell arteritis (GCA) Idiopathic inflammatory myositis Autoimmune encephalitis IgG4-RSD Mucous membrane pemphigoid
Dr David Rabbolini
Haematologist Inherited platelet function disorders (IPFD) Inherited platelet number disorders (IPNDs)
Dr David Szmulewicz
Neurologist, neuro-otologist and medical researcher Cerebellar ataxia / cerebellar disorders (inherited and sporadic) Vestibular (inner ear balance mechanism) disorders Combined cerebellar and vestibular diseases Multiple system atrophy, cerebellar type
Dr Dominic Pepperell
Dominic Pepperell Bleeding disorders Platelet dysfunction disorders Thrombotic disorders / thrombophilias Fiona Stanley Hospital
Dr Elizabeth Duncan
Medical Scientist Haemophilia A Haemophilia B Factor XIII deficiency von Willebrand disease (vWD) Factor XI deficiency
Dr Fred Chen
Consultant ophthalmologist Inherited retinal diseases Retinitis pigmentosa Stargardt disease Induced pluripotent stem cell modelling Clinical trials, gene therapy Retinal imaging
Dr Hugh McCarthy
Paediatric Nephrologist Nephrology Nephrotic syndrome Rare renal disease Patient registries Sydney Children’ Hospital Network and the Centre for Kidney Research
Dr Jacky Hewitt
Paediatric endocrinologist Disorders of sex development / intersex variations Congenital adrenal hyperplasia Androgen insensitivity syndrome Turner syndrome Klinefelter syndrome Gender dysphoria
Dr Jane Estrella
Endocrinologist / Clinical genetics trainee Endocrine aspects of inborn errors of metabolism Late manifesting inborn errors of metabolism Monogenic endocrine disorders Adults with connective tissue dysplasia Metabolomics and biochemical genetics in pregnancy
Dr John De Roach
Medical Physicist Genetics of inherited retinal disease Sir Charles Gairdner Hospital, WA Australian Inherited Retinal Disease Registry and DNA Bank
Dr Kathy Nicholls
Renal Physician Nephrologist Fabry disease Genetic kidney diseases Alport’s syndrome Polycystic kidney disease Cystic kidney diseases Royal Melbourne Hospital
Dr Kathy Tucker
Cancer geneticist von Hippel Lindau Succinate Dehydrogenase B,C,D (heterozygous) mutations Rare cancers and their implications for families Childhood cancer Li Fraumeni Syndrome Genetic endocrine tumours
Dr Kevin Murray
Paediatrician Ehlers Danlos syndrome (EDS) / Inherited connective tissue disorders Storage disorders / Lysosomal disorders Systemic Lupus Erythematosus Dermatomyositis Scleroderma Bone Dysplasia
Dr Lisa Ewans
Clinical Geneticist and Genome Analyst Genomics in Mendelian disease (monogenic) Dysmorphology and paediatric diagnosis
Dr Louise Crowe
Dr Louise Crowe Research Psychologist Lysosomal storage disorders Inborn errors of metabolism Spinal muscular atrophy Duchenne muscular dystrophy Friedreich ataxia
Dr Melanie Wong
Paediatric Allergist and Immunologist Primary immunodeficiency Autoimmune diseases, especially early onset and/or multiple disorders Immune dysregulation Auto-inflammatory disorders Hereditary angioedema
Dr Michael Pidcock
Haematologist Haemophilia and related bleeding disorders Thalassaemia and haemoglobinopathies Paroxysmal nocturnal haemoglobinuria (PNH) Acute promyelocytic leukaemia (APML) Gaucher disease and related lipid storage disorders
Dr Michel Tchan
Clinical Geneticist Inborn errors of metabolism Lysosomal storage disorders Renal genetics Neurogenetics
Dr Phillipa Lamont
Medical Practitioner Anything neurological and genetic Muscle and nerve disease – eg. muscular dystrophies, myopathies, inherited nerve disease Brain degeneration – leukodystrophies, neurodegeneration Phakomatosis – neurofibromatosis 1 and 2, tuberous sclerosis Inherited movement disorders, including ataxias Hereditary spinal cord disease – eg. hereditary spastic paraparesis
Dr Quentin Summers
Respiratory physician Pulmonary alveolar proteinosis Lymphocytic interstitial pneumonia Lymphangioleiomyomatosis
Dr Rick Leventer
Paediatric Neurologist Brain malformations – adults and children Leukodystrophies – children Neurogenetic disorders – children
Dr Rishi Kotecha
Paediatric Haematology and Oncology Infant Acute lymphoblastic leukaemia (ALL) Child and adolescent Meningioma
Dr Roula Ghaoui
Neurologist Neuromuscular disorders Neurogenetics Muscular dystrophies Mitochondrial myopathy Other myopathies
Dr Ryan Davis
Biomedical Scientist Mitochondrial Diseases Whole Genome Sequencing Diagnostics Biomarkers Metabolomics Mitochondrial Disease Research
Dr Scott Wilson
Nephrologist Fibromuscular Dysplasia Renal TSC / LAM Tuberous Sclerosis Complex Lymphangioleiomyomatosis
Dr Simon Jiang
Nephrologist / Research Fellow Canberra Hospital and ANU College of Health and Medicine Kidney Disease Glomerulonephritis Systemic autoimmunity
Dr Tina Carter
Paediatric and Adolescent Haematologist Bone marrow failure conditions Bleeding disorders Clotting disorders Haemoglobinopathies
Dr Tricia Clark
General Practitioner Management of rare and genetic diseases in the general practice setting Support of families of people with rare diseases Prenatal counselling Transition from Paediatric to Adult health services
Dr Yemima Berman
Clinical Geneticist NF1 Neurofibromatosis Ehlers Danlos Syndrome of the vascular type
Dr zhan he Wu
Fanconi anemia Chromosomal instability syndromes Inherited bone marrow failure syndromes Sydney Genome Diagnostics, The Children’s Hospital at Westmead, Sydney, Senior Scientist
Elizabeth Thompson
Children Rare syndromes Bone dysplasias Women’s and Children’s Hospital Clinical Geneticist South Australia
Emeritus Professor Bruce Tonge
Specialist Child and Adolescent Psychiatrist Prader-Willi syndrome Fragile X syndrome Williams syndrome Down syndrome Genetic disorders associated with Autism Foetal alcohol spectrum disorders, and behavioural phenotypes
Jacqueline Ryan
Health Care Clinician – Nurse Practitioner Familial Hypercholesterolaemia (FH) – diagnosis, management and cascade screening Hypercholesterolaemia
Janni Goss
Physiotherapist / Feldenkrais Practitioner Helping carers to reduce their stress and improve their wellbeing – also the adults or children they are caring for Educating health professionals to outsmart stress and improve their wellbeing Training health professionals to include Laughter Yoga as part of chronic disease management, rehab etc
Jenny Downs
Physiotherapist, medical science researcher Rett syndrome CDKL5 disorder MECP2 duplication syndrome Duchenne muscular dystrophy Early onset scoliosis
Jozef Gecz
Human Geneticist Intellectual disability Early onset epilepsies, epileptic encephalopathies Cerebral palsy
Ka-Wa Purdey Lung
Physiotherapist Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), Spinal muscular atrophy (SMA), Myotonic muscular dystrophy (MMD), Charcot-Marie-Tooth disease (CMT) Optimising function and inclusion at school and community Initial assessment and continuous monitoring Hydrotherapy Postural care and equipment prescription e.g. standing frame, wheelchair and walkers Individual planning Individual transfer and mobility plan
Karen Noonan
Registered Nurse, Research Student Porphyria Mental health Self management Family carer support Persons with porphyria support and education emotional well being with other rare diseases
Klair Bayley
Nurse and Midwife Newborn screening Improving diagnosis and support networks Improving clinical care Improving access to emerging therapies Advocacy Access to clinical trials
Kristi Jones
Genetic disorders Neurogenetic disorders Neuromuscular disorders Preimplantation Genetic Diagnosis
Lee Fyfe
Clinical Nurse – Neurogenetics Myotonic dystrophy Duchenne and Becker muscular dystrophy Facioscapulohumeral muscular dystrophy (FSHD) Spinal muscular atrophy (SMA)
Michael Bogwitz
Genetic Counsellor Adult Cancer Adult Cardiac Hereditary Hemmorhagic Telangiectasia (HHT) Malignant Hyperthermia (MH)
Michelle O’Sullivan
Senior Occupational Therapist Hypermobility Conditions Ehlers-Danlos Syndrome Loeys-Dietz Syndrome Marfan Syndrome Hypermobility Spectrum Disorders
Miriam Rodrigues
Genetic Counsellor Neuromuscular disorders Muscular dystrophies Inherited myopathies Inherited peripheral neuropathies Inherited ataxias Spinal muscular atrophy
Nathan Pavlos
Genetically Modified Mouse Models of Rare Bone Diseases Bone Biology Skeletal Cell Biology Osteopetrosis Osteoporosis Rare bone disorders Osteoclast-mediated bone diseases
Nicole Pates
Nicole Pates Paediatric Physiotherapist Ehlers Danlos Syndrome Osteogenesis Imperfecta Juvenile idiopathic arthritis Connective Tissue Dysplasia
Nitamarie Vorster
Physiotherapist Neuromuscular disorders Respiratory management in neuromuscular dystrophy Developmental delays in children
Prof Andrew Mallett
Nephrologist Inherited kidney disease Genetic kidney disease Autosomal dominant polycystic kidney disease (ADPKD) Autosomal Dominant Tubulo-Interstitial Kidney Disease (ADTKD) syn. MCKD, FJHN, UAKD Nephronophthisis Alport syndrome
Prof Monique Ryan
Paediatric Neurologist Neuromuscular disorders Neuropathies Muscular dystrophies Spinal muscular atrophy Neurophysiology
Prof. Catherine Cole
Haematologist / Oncologist Sickle cell disease Thalassemia Bone marrow failure syndromes Leukaemia Immunodeficiency’s requiring haemopoietic stem cell transplant Metabolic disorders requiring haemopoietic stem cell transplant
Prof. Johan Rosman
Nephrologist IgG glomerulonephritis Idiopathic retro peritoneal fibrosis Atypical HUS Cystinosis
Prof. Ross Baker
Haematologist Haemophilia von Willebrand’s disease (vWD) Thrombotic thrombocytopenic purpura (TTP) Atypical haemolytic uraemia syndrome
Prof. Rowan Walker
Nephrologist Fibromuscular Dysplasia Renal TSC / LAM Tuberous Sclerosis Complex Lymphangioleiomyomatosis
Prof. Tony Penington
Plastic Surgeon Vascular malformations, including arteriovenous malformation (AVM) Paediatric vascular tumours
Professor Andreas Zankl
Clinical Geneticist Skeletal dysplasia’s Bone dysplasia’s The Children’s Hospital at Westmead Professor of Medical Genetics
Professor Andrew Somogyi
Professor and Clinical Pharmacist/Pharmacologist Severe adverse drug reactions Pharmacogenomics
Professor Carolyn Sue
Neurologist Professor and Director of Neurogenetics Kolling Institute, Royal North Shore Hospital and University of Sydney Mitochondrial disease Parkinson’s disease Hereditary spastic paraplegia Dystonia Ataxia Other movement disorders
Professor Craig Munns
Paediatric Endocrinologist / Professor Paediatric Bone and Mineral Medicine Bone and mineral disorders Genetic osteoporosis Genetic rickets Nutritional rickets Growth disorders
Professor David Mackey
Ophthalmologist Genetic Eye Diseases Optic Nerve diseases: Leber Hereditary Optic Neuropathy, Dominant Optic Atrophy Glaucoma: Primary Open Angle and Congenital Inherited Retinal Diseases: Retinitis Pigmentosa, Best Disease, Choroideraemia, Xlinked Retinoschisis Congenital Cataracts
Professor Elsdon Storey
Neurologist Adolescent and adult-onset hereditary ataxias Hereditary dementias Adolescent and adult-onset hereditary spastic parapareses Adolescent and adult-onset hereditary neuromuscular disorders Neurophakomatoses
Professor John Walsh
Thyroid disease Endocrine neoplasia including mutliple endocrine neoplasia, familial paraganglioma syndromes Pituitary and adrenal disease Metabolic bone disease
Professor Joseph Selvanayagam
Cardiologist Hypertrophic Cardiomyopathy Dilated Cardiomyopathy (familial) Fabry Disease
Professor Nigel Laing
Professor of Human Genetics and Senior Medical Scientist Neurogenetic disorders Congenital muscle disease
Professor Richard Prince
Professor Richard Prince Bone and mineral disease, Endocrinology, Sir Charles Gairdner Hospital and Hollywood Hospital, WA
Professor Richmond Jeemy
Cardiologist Marfan syndrome Vascular Ehlers Danlos Syndrome Loeys Dietz Syndrome Bicuspid Aortic Valve Aortopathy Non-syndromal Heritable Aortic Disease
Professor William Frederic Heddle
Cardiologist / Electrophysiologist Channelopathies (long QT syndrome etc), Brugada syndrome Arrhythmogenic right and left ventricular cardiomyopathies Hypertrophic cardiomyopathy Familial dilated cardiomyopathy with associated conduction disease CPVT Muscular dystrophies with cardiac involvement
Rebecca Dickson
Genetic Counsellor General genetics Prenatal genetics Neurogenetics Neurofibromatosis Cardiac Genetics Cystic Fibrosis
Sian Greening
Genetic counsellor (Cancer) Familial Breast cancer Familial Bowel Cancer Familial Endocrine Cancer Familial cancer NF1
Vivienne Travlos
Physiotherapist Neuromuscular diseases (Duchenne muscular dystrophy (DMD), Congenital muscular dystrophy (CMD), myopathies etc) Muscle weakness necessitating wheelchair use Cystic Fibrosis Research, education, allied health support
Page 1 of 1