Dr Andrew Talbot

Fabry Disease Alport Syndrome Autosomal Dominant Tubulo-interstitial disease AD-PCKD Nephrologist

Dr Louise Crowe

Dr Louise Crowe Research Psychologist Lysosomal storage disorders Inborn errors of metabolism Spinal muscular atrophy Duchenne muscular dystrophy Friedreich ataxia

Associate Professor Ian Fraser

Associate Professor Ian Fraser Nephrologist Epworth HealthCare, Vic Polycystic Kidney Disease Diabetic nephropathy Glomerulonephritis

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...

Kelly Burns

Medical Scientist TTP Haemoglobinopathy NAIT Aplastic Anaemia

Dr Kathy Nicholls

Renal Physician Nephrologist Fabry disease Genetic kidney diseases Alport’s syndrome Polycystic kidney disease Cystic kidney diseases Royal Melbourne Hospital

Michael Bogwitz

Genetic Counsellor Adult Cancer Adult Cardiac Hereditary Hemmorhagic Telangiectasia (HHT) Malignant Hyperthermia (MH)

Robin Forbes

Genetic Counsellor Spinal muscular atrophy (SMA) Bone dysplasia Neuromuscular Epilepsy

Natalie McLean

Genetic Counsellor Neurofibromatosis Type 1 Neurofibromatosis Type 2 Schwannomatosis

Prof Monique Ryan

Paediatric Neurologist Neuromuscular disorders Neuropathies Muscular dystrophies Spinal muscular atrophy Neurophysiology

Dr Scott Wilson

Nephrologist Fibromuscular Dysplasia Renal TSC / LAM Tuberous Sclerosis Complex Lymphangioleiomyomatosis

Prof. Rowan Walker

Nephrologist Fibromuscular Dysplasia Renal TSC / LAM Tuberous Sclerosis Complex Lymphangioleiomyomatosis

Dr Rick Leventer

Paediatric Neurologist Brain malformations – adults and children Leukodystrophies – children Neurogenetic disorders – children

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

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

Dr Jacky Hewitt

Paediatric endocrinologist Disorders of sex development / intersex variations Congenital adrenal hyperplasia Androgen insensitivity syndrome Turner syndrome Klinefelter syndrome Gender dysphoria

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...

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

Prof. Tony Penington

Plastic Surgeon Vascular malformations, including arteriovenous malformation (AVM) Paediatric vascular tumours

Dr Philip Bekhor

Dermatologist Tuberous Sclerosis – management of skin manifestations