by GuARD Mar 8, 2019
Fabry Disease Alport Syndrome Autosomal Dominant Tubulo-interstitial disease AD-PCKD Nephrologist
by GuARD Feb 8, 2019
Dr Louise Crowe Research Psychologist Lysosomal storage disorders Inborn errors of metabolism Spinal muscular atrophy Duchenne muscular dystrophy Friedreich ataxia
by GuARD Jan 11, 2019
Associate Professor Ian Fraser Nephrologist Epworth HealthCare, Vic Polycystic Kidney Disease Diabetic nephropathy Glomerulonephritis
by GuARD Jul 13, 2018
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...
by GuARD Jan 31, 2018
Medical Scientist TTP Haemoglobinopathy NAIT Aplastic Anaemia
by GuARD Jun 15, 2017
Renal Physician Nephrologist Fabry disease Genetic kidney diseases Alport’s syndrome Polycystic kidney disease Cystic kidney diseases Royal Melbourne Hospital
by GuARD Jun 15, 2017
Genetic Counsellor Adult Cancer Adult Cardiac Hereditary Hemmorhagic Telangiectasia (HHT) Malignant Hyperthermia (MH)
by GuARD Jun 15, 2017
Genetic Counsellor Spinal muscular atrophy (SMA) Bone dysplasia Neuromuscular Epilepsy
by GuARD Jun 15, 2017
Genetic Counsellor Neurofibromatosis Type 1 Neurofibromatosis Type 2 Schwannomatosis
by GuARD Jun 15, 2017
Paediatric Neurologist Neuromuscular disorders Neuropathies Muscular dystrophies Spinal muscular atrophy Neurophysiology
by GuARD Jun 15, 2017
Registered Nurse Neuromuscular
by GuARD Jun 15, 2017
Nephrologist Fibromuscular Dysplasia Renal TSC / LAM Tuberous Sclerosis Complex Lymphangioleiomyomatosis
by GuARD Jun 15, 2017
Nephrologist Fibromuscular Dysplasia Renal TSC / LAM Tuberous Sclerosis Complex Lymphangioleiomyomatosis
by GuARD Jun 15, 2017
Paediatric Neurologist Brain malformations – adults and children Leukodystrophies – children Neurogenetic disorders – children
by GuARD Jun 15, 2017
Psychiatrist Neurometabolic disorders Niemann Pick Type C Phenylketonuria
by GuARD Jun 15, 2017
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
by GuARD Jun 15, 2017
Neurologist Adolescent and adult-onset hereditary ataxias Hereditary dementias Adolescent and adult-onset hereditary spastic parapareses Adolescent and adult-onset hereditary neuromuscular disorders Neurophakomatoses
by GuARD Jun 15, 2017
Neurologist / Geneticist Neurology children Neurogenetics
by GuARD Jun 15, 2017
Paediatric endocrinologist Disorders of sex development / intersex variations Congenital adrenal hyperplasia Androgen insensitivity syndrome Turner syndrome Klinefelter syndrome Gender dysphoria
by GuARD Jun 8, 2017
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...
by GuARD Jun 8, 2017
Medical Practitioner Ehlers Danlos Syndrome Marfan syndrome Stickler syndrome Loeys Dietz syndrome Dysautonomia
by GuARD May 10, 2017
General Practitioner – Special Interest Developmental Disability Cornelia de Lange Prader Willi syndrome 22q Deletion syndrome Williams syndrome Tuberous Sclerosis Fragile X syndrome
by GuARD May 9, 2017
Plastic Surgeon Vascular malformations, including arteriovenous malformation (AVM) Paediatric vascular tumours
by GuARD May 8, 2017
Dermatologist Tuberous Sclerosis – management of skin manifestations
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