Dr Jessica Povall

Dr Jessica Povall, DPT, Physiotherapist Brain Hub 1-2 / 408 Victoria Rd, Gladesville NSW 2111(02) 9168 8099 www.brainhub.com.au

Dr zhan he Wu

Fanconi anemia Chromosomal instability syndromes Inherited bone marrow failure syndromes Sydney Genome Diagnostics, The Children’s Hospital at Westmead, Sydney, Senior Scientist

Michelle O’Sullivan

Senior Occupational Therapist Hypermobility Conditions Ehlers-Danlos Syndrome Loeys-Dietz Syndrome Marfan Syndrome Hypermobility Spectrum Disorders

Dr Andrew Biggin

Dr Andrew Biggin Paediatric Endocrinologist Clinical Academic – Bone & Mineral Medicine Bone and mineral disorders Osteogenesis imperfecta Endocrine disorders  

Professor Carolyn Sue

Neurologist Professor and Director of Neurogenetics Kolling Institute, Royal North Shore Hospital and University of Sydney Mitochondrial disease Parkinson’s disease Hereditary spastic paraplegia Dystonia Ataxia Other movement...

Professor Craig Munns

Paediatric Endocrinologist / Professor Paediatric Bone and Mineral Medicine Bone and mineral disorders Genetic osteoporosis Genetic rickets Nutritional rickets Growth disorders

Professor Richmond Jeemy

Cardiologist Marfan syndrome Vascular Ehlers Danlos Syndrome Loeys Dietz Syndrome Bicuspid Aortic Valve Aortopathy Non-syndromal Heritable Aortic Disease

Dr Ryan Davis

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

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

Sian Greening

Genetic counsellor (Cancer) Familial Breast cancer Familial Bowel Cancer Familial Endocrine Cancer Familial cancer NF1

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

Tracey Szanto

Health Manager Intellectual Disability Intellectual Disability and Mental Health

Dr Yemima Berman

Clinical Geneticist NF1 Neurofibromatosis Ehlers Danlos Syndrome of the vascular type

Claire Galea

Statistician Beckwith-Wiedemann Syndrome Hemihyperplasia

Dr Michel Tchan

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

Dr Hugh McCarthy

Paediatric Nephrologist Nephrology Nephrotic syndrome Rare renal disease Patient registries Sydney Children’ Hospital Network and the Centre for Kidney Research

Professor Andreas Zankl

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

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...

Eunice Gribbin

Registered Nurse Hirschsprung disease Anorectal malformation Down syndrome

Dr Melanie Wong

Paediatric Allergist and Immunologist Primary immunodeficiency Autoimmune diseases, especially early onset and/or multiple disorders Immune dysregulation Auto-inflammatory disorders Hereditary angioedema

Jacqui Robinson

Genetic Counsellor Metabolic Disorders Neuromuscular Disorders Tuberous Sclerosis

Dr David Rabbolini

Haematologist Inherited platelet function disorders (IPFD) Inherited platelet number disorders (IPNDs)