Elizabeth Thompson

Children Rare syndromes Bone dysplasias Women’s and Children’s Hospital Clinical Geneticist South Australia

Kristi Jones

Genetic disorders Neurogenetic disorders Neuromuscular disorders Preimplantation Genetic Diagnosis

Dr Lisa Ewans

Clinical Geneticist and Genome Analyst Genomics in Mendelian disease (monogenic) Dysmorphology and paediatric diagnosis

Jozef Gecz

Human Geneticist Intellectual disability Early onset epilepsies, epileptic encephalopathies Cerebral palsy

Dr Tina Lamey

Research Scientist Genetics of inherited retinal disease

Dr John De Roach

Medical Physicist Genetics of inherited retinal disease Sir Charles Gairdner Hospital, WA Australian Inherited Retinal Disease Registry and DNA Bank

Helen Mountain

Genetic Counsellor Fertility Genetic cardiac disorders Inherited cancer syndromes

Stephanie Broley

Genetic Counsellor Genetic counselling Undiagnosed diseases in children

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

Rebecca Dickson

Genetic Counsellor General genetics Prenatal genetics Neurogenetics Neurofibromatosis Cardiac Genetics Cystic Fibrosis

Anna Hackett

Clinical Geneticist Intellectual disability Autism Congenital anomalies

Dr Kathy Tucker

Cancer geneticist von Hippel Lindau Succinate Dehydrogenase B,C,D (heterozygous) mutations Rare cancers and their implications for families Childhood cancer Li Fraumeni Syndrome Genetic endocrine tumours

Dr Anne Ronan

Clinical Geneticist Inherited cardiac disorders Hereditary haemorrhagic telangiectasia (HHT) Huntington disease General clinical genetics

Dr Yemima Berman

Clinical Geneticist NF1 Neurofibromatosis Ehlers Danlos Syndrome of the vascular type

Catherine Nicholls

Molecular Geneticist and Medical Scientist Alpha and beta thalassaemia (HBA2, HBA1, HBB, HBD genes) Haemophilia A, B and C (F8, F9, F11 genes) von Willebrand disease (vWD and GP1B alpha genes) Factor VII deficiency (F7 gene) Protein C deficiency (PROC gene) Next...

Dr Michel Tchan

Clinical Geneticist Inborn errors of metabolism Lysosomal storage disorders Renal genetics Neurogenetics

Professor Andreas Zankl

Clinical Geneticist Skeletal dysplasia’s Bone dysplasia’s The Children’s Hospital at Westmead Professor of Medical Genetics

Miriam Rodrigues

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

Dr Amali Mallawaarachchi

Nephrology and Clinical Genetics Autosomal dominant polycystic kidney disease (ADPKD) Cystic kidney disease Renal genetic disorder

Dr Jane Estrella

Endocrinologist / Clinical genetics trainee Endocrine aspects of inborn errors of metabolism Late manifesting inborn errors of metabolism Monogenic endocrine disorders Adults with connective tissue dysplasia Metabolomics and biochemical genetics in...

Professor Nigel Laing

Professor of Human Genetics and Senior Medical Scientist Neurogenetic disorders Congenital muscle disease

Stephanie Broley

Genetic Counsellor Genetic counselling Undiagnosed diseases in children

Jacqui Robinson

Genetic Counsellor Metabolic Disorders Neuromuscular Disorders Tuberous Sclerosis