by GuARD Mar 8, 2019
Professor Richard Prince Bone and mineral disease, Endocrinology, Sir Charles Gairdner Hospital and Hollywood Hospital, WA
by GuARD Nov 16, 2018
Thyroid disease Endocrine neoplasia including mutliple endocrine neoplasia, familial paraganglioma syndromes Pituitary and adrenal disease Metabolic bone disease
by GuARD Nov 9, 2018
Paediatric Endocrinologist Perth Children’s Hospital, Department of Endocrinology and Diabetes, WA Bone and Mineral metabolism Vitamin D Exercise
by GuARD Nov 9, 2018
Genetically Modified Mouse Models of Rare Bone Diseases Bone Biology Skeletal Cell Biology Osteopetrosis Osteoporosis Rare bone disorders Osteoclast-mediated bone diseases
by GuARD Sep 20, 2018
Western Kids Health Children Ehlers Danlos Syndrome Musculoskeletal Physiotherapist
by GuARD Aug 31, 2018
Dominic Pepperell Bleeding disorders Platelet dysfunction disorders Thrombotic disorders / thrombophilias Fiona Stanley Hospital
by GuARD Jul 10, 2018
Nicole Pates Paediatric Physiotherapist Ehlers Danlos Syndrome Osteogenesis Imperfecta Juvenile idiopathic arthritis Connective Tissue Dysplasia
by GuARD Jul 6, 2018
Occupational Therapist Ehlers Danlos Syndrome
by GuARD May 24, 2018
Occupational Therapy Noonan Syndrome
by GuARD Mar 19, 2018
Gastroenterologist Gastric Adenocarcinoma Proximal Polyposis Syndrome
by GuARD Sep 15, 2017
Nephrologist Renal Hyperoxaluria Amyloidosis and Renal Paraprotein Disorders
by GuARD Jul 27, 2017
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...
by GuARD Jul 27, 2017
Research Scientist Genetics of inherited retinal disease
by GuARD Jul 27, 2017
Medical Scientist Genetics of inherited retinal disease
by GuARD Jul 6, 2017
Medical Scientist Genetics of inherited retinal disease
by GuARD Jul 6, 2017
Medical Physicist Genetics of inherited retinal disease Sir Charles Gairdner Hospital, WA Australian Inherited Retinal Disease Registry and DNA Bank
by GuARD Jul 6, 2017
Nephrologist Renal diseases Tubular disorders Polycystic kidney disease Glomerulonephritis
by GuARD Jun 15, 2017
Nurse and Midwife Newborn screening Improving diagnosis and support networks Improving clinical care Improving access to emerging therapies Advocacy Access to clinical trials
by GuARD Jun 15, 2017
Genetic Counsellor Fertility Genetic cardiac disorders Inherited cancer syndromes
by GuARD Jun 15, 2017
Genetic Counsellor Genetic counselling Undiagnosed diseases in children
by GuARD Jun 15, 2017
Respiratory physician Pulmonary alveolar proteinosis Lymphocytic interstitial pneumonia Lymphangioleiomyomatosis
by GuARD Jun 15, 2017
Genetic Counsellor Clinical genetics Familial cancer
by GuARD Jun 15, 2017
Rheumatologist Scleroderma
by GuARD Jun 15, 2017
Medical Oncologist Medical practitioner Low grade neuro endocrine tumours
by GuARD Jun 15, 2017
Consultant Anaesthetist Malignant Hyperthermia (MH)
by GuARD Jun 15, 2017
Orthopaedic Surgeon Osteogenesis Imperfecta Acetabular dysplasia
by GuARD Jun 15, 2017
Renal Physician Nephrologist Tuberous Sclerosis Cystinosis
by GuARD Jun 15, 2017
Speech Pathologist Huntington Disease
by GuARD Jun 15, 2017
Registered Nurse Neurological conditions
by GuARD Jun 15, 2017
Surgeon Multiple Endocrine Neoplasia
by GuARD Jun 15, 2017
Registered Nurse Huntington’s Disease
by GuARD Jun 15, 2017
Deafblind Consultant Usher Syndrome Deafblindness
by GuARD Jun 15, 2017
Psychiatry Huntington disease Young onset dementias Neuropsychiatric manifestations of epilepsy Neuropsychiatric manifestations of movement disorders Autoimmune encephalopathies Autism
by GuARD Jun 15, 2017
Clinical Nurse Disease process / interventions Long term management of Fabry disease Patient and family support
by GuARD Jun 15, 2017
Physiotherapist 24 hour postural care – protection of body shape Seating / wheelchairs Supported lying Pressure care Disability
by GuARD Jun 15, 2017
Physiotherapist Neuromuscular diseases
by GuARD Jun 15, 2017
Consultant Psychiatrist Fabry Disease
by GuARD Jun 15, 2017
Physiotherapist Neuromuscular disorders Respiratory management in neuromuscular dystrophy Developmental delays in children
by GuARD Jun 15, 2017
Clinical Nurse – Neurogenetics Myotonic dystrophy Duchenne and Becker muscular dystrophy Facioscapulohumeral muscular dystrophy (FSHD) Spinal muscular atrophy (SMA)
by GuARD Jun 15, 2017
Physiotherapist Duchenne muscular dystrophy (DMD) Becker’s muscular dystrophy (BMD) Leukodystrophy Mitochondrial disorder Bethlem myopathy
by GuARD Jun 15, 2017
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...
by GuARD Jun 15, 2017
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...
by GuARD Jun 15, 2017
Physiotherapist, medical science researcher Rett syndrome CDKL5 disorder MECP2 duplication syndrome Duchenne muscular dystrophy Early onset scoliosis
by GuARD Jun 15, 2017
Neurologist Cognitive / behavioural Neurology Alzheimer’s Disease Lewy Body disease Frontotemporal dementia Primary Progressive Aphasia Prion disease
by GuARD Jun 15, 2017
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,...
by GuARD Jun 8, 2017
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
by GuARD Jun 8, 2017
Paediatric Rheumatology Consultant Bone health
by GuARD Jun 8, 2017
Medical Scientist Muscle disease Movement disorders Neuropathies
by GuARD Jun 8, 2017
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)
by GuARD Jun 8, 2017
Professor of Human Genetics and Senior Medical Scientist Neurogenetic disorders Congenital muscle disease
by GuARD Jun 8, 2017
Consultant paediatrician Developmental delay, ADHD, ASD, Fragile X, Rubinstein taybi Rasopathy
by GuARD Jun 8, 2017
Nephrologist IgG glomerulonephritis Idiopathic retro peritoneal fibrosis Atypical HUS Cystinosis
by GuARD Jun 8, 2017
Paediatrician / Neurologist Neurology Neuromuscular Neurometabolic Disorders
by GuARD Jun 8, 2017
Nephrologist Fabry disease Department of Nephrology, Royal Perth Hospital, WA
by GuARD Jun 8, 2017
Paediatrician Ehlers Danlos syndrome (EDS) / Inherited connective tissue disorders Storage disorders / Lysosomal disorders Systemic Lupus Erythematosus Dermatomyositis Scleroderma Bone Dysplasia
by GuARD Jun 8, 2017
Clinical Geneticist Cancer Genetics Cardiac Genetics
by GuARD Jun 8, 2017
Paediatric Haematology and Oncology Infant Acute lymphoblastic leukaemia (ALL) Child and adolescent Meningioma
by GuARD May 14, 2017
Haematologist / Oncologist Sickle cell disease Thalassemia Bone marrow failure syndromes Leukaemia Immunodeficiency’s requiring haemopoietic stem cell transplant Metabolic disorders requiring haemopoietic stem cell...
by GuARD May 14, 2017
Health Care Clinician – Nurse Practitioner Familial Hypercholesterolaemia (FH) – diagnosis, management and cascade screening Hypercholesterolaemia
by GuARD May 14, 2017
Haematologist Haemophilia von Willebrand’s disease (vWD) Thrombotic thrombocytopenic purpura (TTP) Atypical haemolytic uraemia syndrome
by GuARD May 13, 2017
Consultant Physiotherapist Rett Syndrome Williams Syndrome Postural Care of children with physical disability
by GuARD May 13, 2017
Genetic Counsellor Genetic counselling Undiagnosed diseases in children
by GuARD May 13, 2017
Paediatric and Adolescent Haematologist Bone marrow failure conditions Bleeding disorders Clotting disorders Haemoglobinopathies
by GuARD May 13, 2017
Clinical Geneticist
by GuARD May 9, 2017
Consultant ophthalmologist Inherited retinal diseases Retinitis pigmentosa Stargardt disease Induced pluripotent stem cell modelling Clinical trials, gene therapy Retinal imaging
by GuARD May 8, 2017
Consultant Neurologist Neuromuscular Neurogenetics Motor neuron disease (MND)
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