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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