Dr Louise Crowe

by | Feb 8, 2019

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

Nathan Pavlos

by | 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

Dr Ryan Davis

by | May 14, 2018

Biomedical Scientist Mitochondrial Diseases Whole Genome Sequencing Diagnostics Biomarkers Metabolomics Mitochondrial Disease Research

Karen Noonan

by | Jun 15, 2017

Registered Nurse, Research Student Porphyria Mental health Self management Family carer support Persons with porphyria support and education emotional well being with other rare diseases

Claire Galea

by | Jun 15, 2017

Statistician Beckwith-Wiedemann Syndrome Hemihyperplasia

Jenny Downs

by | Jun 15, 2017

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

Miriam Rodrigues

by | Jun 15, 2017

Genetic Counsellor Neuromuscular disorders Muscular dystrophies Inherited myopathies Inherited peripheral neuropathies Inherited ataxias Spinal muscular atrophy

Dr David Szmulewicz

by | 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...