by GuARD Nov 30, 2018
Fanconi anemia Chromosomal instability syndromes Inherited bone marrow failure syndromes Sydney Genome Diagnostics, The Children’s Hospital at Westmead, Sydney, Senior Scientist
by GuARD Oct 12, 2018
Senior Occupational Therapist Hypermobility Conditions Ehlers-Danlos Syndrome Loeys-Dietz Syndrome Marfan Syndrome Hypermobility Spectrum Disorders
by GuARD Jul 10, 2018
Dr Andrew Biggin Paediatric Endocrinologist Clinical Academic – Bone & Mineral Medicine Bone and mineral disorders Osteogenesis imperfecta Endocrine disorders
by GuARD Jul 5, 2018
Batten disease / Neuronal Ceroid Lipofuscinosis
by GuARD Jun 1, 2018
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...
by GuARD Jun 1, 2018
by GuARD May 24, 2018
Molecular and cellular biology research Short telomere syndromes
by GuARD May 24, 2018
Cancer Epidemiology Oesophageal Cancer Rare Cancers
by GuARD May 24, 2018
Cell and Gene Therapy
by GuARD May 24, 2018
Paediatric Endocrinologist / Professor Paediatric Bone and Mineral Medicine Bone and mineral disorders Genetic osteoporosis Genetic rickets Nutritional rickets Growth disorders
by GuARD May 24, 2018
Cardiologist Marfan syndrome Vascular Ehlers Danlos Syndrome Loeys Dietz Syndrome Bicuspid Aortic Valve Aortopathy Non-syndromal Heritable Aortic Disease
by GuARD May 14, 2018
Biomedical Scientist Mitochondrial Diseases Whole Genome Sequencing Diagnostics Biomarkers Metabolomics Mitochondrial Disease Research
by GuARD May 11, 2018
Genetic disorders Neurogenetic disorders Neuromuscular disorders Preimplantation Genetic Diagnosis
by GuARD Mar 12, 2018
Clinical Geneticist and Genome Analyst Genomics in Mendelian disease (monogenic) Dysmorphology and paediatric diagnosis
by GuARD Jul 6, 2017
General Practitioner Cystinosis
by GuARD Jun 15, 2017
Respiratory Paediatrician Lung Disease
by GuARD Jun 15, 2017
Dietitian Eosinophilic oesophagitis
by GuARD Jun 15, 2017
Genetic counsellor (Cancer) Familial Breast cancer Familial Bowel Cancer Familial Endocrine Cancer Familial cancer NF1
by GuARD Jun 15, 2017
Genetic Counsellor General genetics Prenatal genetics Neurogenetics Neurofibromatosis Cardiac Genetics Cystic Fibrosis
by GuARD Jun 15, 2017
Clinical Geneticist Intellectual disability Autism Congenital anomalies
by GuARD Jun 15, 2017
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
by GuARD Jun 15, 2017
Clinical Geneticist Inherited cardiac disorders Hereditary haemorrhagic telangiectasia (HHT) Huntington disease General clinical genetics
by GuARD Jun 15, 2017
Health Manager Intellectual Disability Intellectual Disability and Mental Health
by GuARD Jun 15, 2017
Clinical Geneticist NF1 Neurofibromatosis Ehlers Danlos Syndrome of the vascular type
by GuARD Jun 15, 2017
Statistician Beckwith-Wiedemann Syndrome Hemihyperplasia
by GuARD Jun 15, 2017
Paediatrician Angelman Syndrome
by GuARD Jun 15, 2017
Clinical Geneticist Inborn errors of metabolism Lysosomal storage disorders Renal genetics Neurogenetics
by GuARD Jun 15, 2017
Paediatric Nephrologist Nephrology Nephrotic syndrome Rare renal disease Patient registries Sydney Children’ Hospital Network and the Centre for Kidney Research
by GuARD Jun 15, 2017
Clinical Geneticist Skeletal dysplasia’s Bone dysplasia’s The Children’s Hospital at Westmead Professor of Medical Genetics
by GuARD Jun 15, 2017
Nephrology and Clinical Genetics Autosomal dominant polycystic kidney disease (ADPKD) Cystic kidney disease Renal genetic disorder
by GuARD Jun 15, 2017
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...
by GuARD Jun 8, 2017
Registered Nurse Hirschsprung disease Anorectal malformation Down syndrome
by GuARD Jun 8, 2017
Clinical Immunologist and Allergist
by GuARD May 14, 2017
Paediatric Allergist and Immunologist Primary immunodeficiency Autoimmune diseases, especially early onset and/or multiple disorders Immune dysregulation Auto-inflammatory disorders Hereditary angioedema
by GuARD May 14, 2017
Haematologist Inherited Platelet Disorders
by GuARD May 13, 2017
General Practitioner Phenylketonuria (PKU) Breastfeeding
by GuARD May 9, 2017
Genetic Counsellor Metabolic Disorders Neuromuscular Disorders Tuberous Sclerosis
by GuARD May 8, 2017
Clinical Psychologist Neurofibromatosis
by GuARD May 4, 2017
Haematologist Inherited platelet function disorders (IPFD) Inherited platelet number disorders (IPNDs)
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