Professor Richard Prince

Professor Richard Prince Bone and mineral disease, Endocrinology, Sir Charles Gairdner Hospital and Hollywood Hospital, WA

Professor John Walsh

Thyroid disease Endocrine neoplasia including mutliple endocrine neoplasia, familial paraganglioma syndromes Pituitary and adrenal disease Metabolic bone disease

Associate Professor Aris Siafarikas

Paediatric Endocrinologist Perth Children’s Hospital, Department of Endocrinology and Diabetes, WA Bone and Mineral metabolism Vitamin D Exercise

Nathan Pavlos

Genetically Modified Mouse Models of Rare Bone Diseases Bone Biology Skeletal Cell Biology Osteopetrosis Osteoporosis Rare bone disorders Osteoclast-mediated bone diseases

Michelle Quinn

Western Kids Health Children Ehlers Danlos Syndrome Musculoskeletal Physiotherapist

Dr Dominic Pepperell

Dominic Pepperell Bleeding disorders Platelet dysfunction disorders Thrombotic disorders / thrombophilias Fiona Stanley Hospital

Nicole Pates

Nicole Pates Paediatric Physiotherapist Ehlers Danlos Syndrome Osteogenesis Imperfecta Juvenile idiopathic arthritis Connective Tissue Dysplasia

Dr Marcus Chin

Gastroenterologist Gastric Adenocarcinoma Proximal Polyposis Syndrome

Dr Ashley Irish

Nephrologist Renal Hyperoxaluria Amyloidosis and Renal Paraprotein 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...

Dr Tina Lamey

Research Scientist Genetics of inherited retinal disease

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 Aron Chakera

Nephrologist Renal diseases Tubular disorders Polycystic kidney disease Glomerulonephritis

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

Helen Mountain

Genetic Counsellor Fertility Genetic cardiac disorders Inherited cancer syndromes

Stephanie Broley

Genetic Counsellor Genetic counselling Undiagnosed diseases in children

Dr Quentin Summers

Respiratory physician Pulmonary alveolar proteinosis Lymphocytic interstitial pneumonia Lymphangioleiomyomatosis

Dr David Ransom

Medical Oncologist Medical practitioner Low grade neuro endocrine tumours

Yvonne Low

Registered Nurse Huntington’s Disease

Dr Bradleigh Hayhow

Psychiatry Huntington disease Young onset dementias Neuropsychiatric manifestations of epilepsy Neuropsychiatric manifestations of movement disorders Autoimmune encephalopathies Autism

Douglas Crawford

Clinical Nurse Disease process / interventions Long term management of Fabry disease Patient and family support

Bas Jansen

Physiotherapist 24 hour postural care – protection of body shape Seating / wheelchairs Supported lying Pressure care Disability

Nitamarie Vorster

Physiotherapist Neuromuscular disorders Respiratory management in neuromuscular dystrophy Developmental delays in children

Lee Fyfe

Clinical Nurse – Neurogenetics Myotonic dystrophy Duchenne and Becker muscular dystrophy Facioscapulohumeral muscular dystrophy (FSHD) Spinal muscular atrophy (SMA)

Amy Piesse

Physiotherapist Duchenne muscular dystrophy (DMD) Becker’s muscular dystrophy (BMD) Leukodystrophy Mitochondrial disorder Bethlem myopathy

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...

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...

Jenny Downs

Physiotherapist, medical science researcher Rett syndrome CDKL5 disorder MECP2 duplication syndrome Duchenne muscular dystrophy Early onset scoliosis

Dr Carolyn F Orr

Neurologist Cognitive / behavioural Neurology Alzheimer’s Disease Lewy Body disease Frontotemporal dementia Primary Progressive Aphasia Prion disease

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,...

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

Dr Mark Davis

Medical Scientist Muscle disease Movement disorders Neuropathies

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)

Professor Nigel Laing

Professor of Human Genetics and Senior Medical Scientist Neurogenetic disorders Congenital muscle disease

Dr Colin Derrick

Consultant paediatrician Developmental delay, ADHD, ASD, Fragile X, Rubinstein taybi Rasopathy

Prof. Johan Rosman

Nephrologist IgG glomerulonephritis Idiopathic retro peritoneal fibrosis Atypical HUS Cystinosis

Dr Maina Kava

Paediatrician / Neurologist Neurology Neuromuscular Neurometabolic Disorders

Dr Mark Thomas

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

Dr Kevin Murray

Paediatrician Ehlers Danlos syndrome (EDS) / Inherited connective tissue disorders Storage disorders / Lysosomal disorders Systemic Lupus Erythematosus Dermatomyositis Scleroderma Bone Dysplasia

Dr Rishi Kotecha

Paediatric Haematology and Oncology Infant Acute lymphoblastic leukaemia (ALL) Child and adolescent Meningioma

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...

Jacqueline Ryan

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

Prof. Ross Baker

Haematologist Haemophilia von Willebrand’s disease (vWD) Thrombotic thrombocytopenic purpura (TTP) Atypical haemolytic uraemia syndrome

Denise Luscombe

Consultant Physiotherapist Rett Syndrome Williams Syndrome Postural Care of children with physical disability

Stephanie Broley

Genetic Counsellor Genetic counselling Undiagnosed diseases in children

Dr Tina Carter

Paediatric and Adolescent Haematologist Bone marrow failure conditions Bleeding disorders Clotting disorders Haemoglobinopathies

Dr Fred Chen

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

Dr Merrilee Needham

Consultant Neurologist Neuromuscular Neurogenetics Motor neuron disease (MND)