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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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