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A/Prof Mark Walterfang


Psychiatrist Neurometabolic disorders Niemann Pick Type C Phenylketonuria


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


Angela Potter


Physiotherapist Neuromuscular weakness


Anna Hackett


Clinical Geneticist Intellectual disability Autism Congenital anomalies


Annabel Clancy


Dietitian Eosinophilic oesophagitis


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 Imke Tammen


Batten disease / Neuronal Ceroid Lipofuscinosis


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


Brett Zani


Occupational Therapy Noonan Syndrome


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)


Christie Boehm


Clinic Nurse Coordinator Royal Prince Alfred Hospital, NSW Pulmonary Hypertension


Claire Galea


Statistician Beckwith-Wiedemann Syndrome Hemihyperplasia


Daniella Villano


Registered Nurse Neuromuscular


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 Alessandro Melanda


Bone diseases Muscle diseases Neurological diseases Motion Analysis


Dr Alexandra Welborn


Consultant Psychiatrist Fabry Disease


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 Nielsen


Psychiatrist Intellectual disability


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 Antonia Milner


Paediatrician Angelman Syndrome


Dr Aron Chakera


Nephrologist Renal diseases Tubular disorders Polycystic kidney disease Glomerulonephritis


Dr Ashley Irish


Nephrologist Renal Hyperoxaluria Amyloidosis and Renal Paraprotein Disorders


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 Colin Whitewood


Orthopaedic Surgeon Osteogenesis Imperfecta Acetabular dysplasia


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 Ransom


Medical Oncologist Medical practitioner Low grade neuro endocrine tumours


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 Fiona McKenzie


Clinical Geneticist


Dr Fred Chen


Consultant ophthalmologist Inherited retinal diseases Retinitis pigmentosa Stargardt disease Induced pluripotent stem cell modelling Clinical trials, gene therapy Retinal imaging


Dr Hemant A. Kulkarni


Renal Physician Nephrologist Tuberous Sclerosis Cystinosis


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 Janet Roddy


Rheumatologist Scleroderma


Dr Jennifer Thompson


Medical Scientist Genetics of inherited retinal disease


Dr Jessica Povall


Dr Jessica Povall, DPT, Physiotherapist Brain Hub 1-2 / 408 Victoria Rd, Gladesville NSW 2111(02) 9168 8099 www.brainhub.com.au


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 Kelly Hamill


General Practitioner Phenylketonuria (PKU) Breastfeeding


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 Maina Kava


Paediatrician / Neurologist Neurology Neuromuscular Neurometabolic Disorders


Dr Marcus Chin


Gastroenterologist Gastric Adenocarcinoma Proximal Polyposis Syndrome


Dr Mark Davis


Medical Scientist Muscle disease Movement disorders Neuropathies


Dr Mark Thomas


Nephrologist Fabry disease Department of Nephrology, Royal Perth Hospital, WA


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 Merrilee Needham


Consultant Neurologist Neuromuscular Neurogenetics Motor neuron disease (MND)


Dr Michael Fahey


Neurologist / Geneticist Neurology children Neurogenetics


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 Nicholas Pachter


Clinical Geneticist Cancer Genetics Cardiac Genetics


Dr Philip Bekhor


Dermatologist Tuberous Sclerosis – management of skin manifestations


Dr Philip Nelson


Consultant Anaesthetist Malignant Hyperthermia (MH)


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 Senq J Lee


Paediatric Rheumatology Consultant Bone health


Dr Shaun Parish


General Practitioner Cystinosis


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 Tina Lamey


Research Scientist Genetics of inherited retinal disease


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 Victoria Scott-Lang


Doctor Consultant Dermatologist


Dr William Stevenson


Haematologist Inherited Platelet Disorders


Dr Winnie Tong


Clinical Immunologist and Allergist


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


Emily Bruining


Occupational Therapist Ehlers Danlos Syndrome


Eunice Gribbin


Registered Nurse Hirschsprung disease Anorectal malformation Down syndrome


Georgina Hett


Speech Pathologist Huntington Disease


Geraldine Mobbs


Clinical Psychologist Neurofibromatosis


Helen Mountain


Genetic Counsellor Fertility Genetic cardiac disorders Inherited cancer syndromes


Jacky Cramb


Physiotherapist Osteogenesis imperfecta children Brisbane NDIS Better Start  


Jacqueline Ryan


Health Care Clinician – Nurse Practitioner Familial Hypercholesterolaemia (FH) – diagnosis, management and cascade screening Hypercholesterolaemia


Jacqui Robinson


Genetic Counsellor Metabolic Disorders Neuromuscular Disorders Tuberous Sclerosis


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


Karen Wickham


Deafblind Consultant Usher Syndrome Deafblindness


Kelly Burns


Medical Scientist TTP Haemoglobinopathy NAIT Aplastic Anaemia


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)



Marilia Pereira


Registered Nurse Neurological conditions


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


Michelle Quinn


Western Kids Health Children Ehlers Danlos Syndrome Musculoskeletal Physiotherapist


Ming Khoon Yew


Surgeon Multiple Endocrine Neoplasia


Miriam Rodrigues


Genetic Counsellor Neuromuscular disorders Muscular dystrophies Inherited myopathies Inherited peripheral neuropathies Inherited ataxias Spinal muscular atrophy


Ms Terri McLaren


Medical Scientist Genetics of inherited retinal disease


Natalie McLean


Genetic Counsellor Neurofibromatosis Type 1 Neurofibromatosis Type 2 Schwannomatosis


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 Adam Jaffe


Respiratory Paediatrician Lung Disease


Professor Andreas Zankl


Clinical Geneticist Skeletal dysplasia’s Bone dysplasia’s The Children’s Hospital at Westmead Professor of Medical Genetics


Professor Andrew Day


Paediatric Gastroenterology Lymphangiectasia Blue Rubber Bleb Naevus Syndrome


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 Guy Eslick


Cancer Epidemiology Oesophageal Cancer Rare Cancers


Professor John Rasko


Cell and Gene Therapy


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 Roger Reddel


Molecular and cellular biology research Short telomere syndromes


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


Robin Forbes


Genetic Counsellor Spinal muscular atrophy (SMA) Bone dysplasia Neuromuscular Epilepsy


Sarah O'Sullivan


Genetic Counsellor Clinical genetics Familial cancer


Shannon Williams


Physiotherapist Neuromuscular diseases


Sian Greening


Genetic counsellor (Cancer) Familial Breast cancer Familial Bowel Cancer Familial Endocrine Cancer Familial cancer NF1


Stephanie Broley


Genetic Counsellor Genetic counselling Undiagnosed diseases in children


Stephanie Broley


Genetic Counsellor Genetic counselling Undiagnosed diseases in children


Tracey Szanto


Health Manager Intellectual Disability Intellectual Disability and Mental Health


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


Yvonne Low


Registered Nurse Huntington’s Disease


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