Directory of Rare Disease Health Professionals

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Antonia Milner

Paediatrician

Vmo

randwickpaeds@internode.on.net

(02) 93264333

Sydney Childrens hospital

Areas of Special Interest

Children

David Szmulewicz

Neurologist & medical researcher

Neurologist & medical researcher

david.szmulewicz@neurologyvictoria.com.au

(03) 90174001

Royal Victorian Eye & Ear Hospital and Florey Institute of Neurosciences & Mental Health

Areas of Special Interest

adult

cerebellar ataxia

William Stevenson

Haematologist

Molecular Haematology and Cytogenetic Laboratories RNSH

william.stevenson@health.nsw.gov.au

02 99267111

Royal North Shore Hospital

Areas of Special Interest

adult

Platelets / Thrombocytopenia

Anna Hackett

Clinical Genetics

Geneticist

anna.hackett@health.nsw.gov.au

4.07E+08

Hunter Genetics

Areas of Special Interest

both

intellectual disability

autism

Jozef Gecz

human geneticist

Head Neurogenetics

jozef.gecz@adelaide.edu.au

61 8 8313 2453

The University of Adelaide

Areas of Special Interest

children

cerebral palsy

intellectual disability

Dr Jacqueline Hewitt

Medical doctor and researcher

Paediatric endocrinologist

reception@cpmgmelbourne.com.au

03 9345 6688

Monash Children's Hospital, Monash University

Areas of Special Interest

Children and young adults

Developmental variations of sex characteristics

Differences/disorders of sex development

Andrew Talbot

Medical Specialist

Nephrologist

andrew.talbot@mh.org.au

03 9342 7000

Western Health

Areas of Special Interest

Adult

Fabry Disease

Alport Syndrome

Daman Langguth

Doctor of Medicine

Director of immunology

daman_langguth@snp.com.au

7.34E+08

Wesley Immunology

Areas of Special Interest

Adult

Primary Immune deficiency

Vasculitis

Jacqui Russell

Nurse Practitioner/Genetic Counsellor

Genetic and Metabolic Nurse Practitioner

jacqui.russell@health.nsw.gov.au

02 93825608

Sydney Children's Hospital Randwick

Areas of Special Interest

Children

Inborrn errors of metabolism

Neuromuscular disorders

DAVID A MACKEY

Ophthalmologist

Professor of Ophthalmology

d.mackey@utas.edu.au

6.14E+10

University of Western Australia, Australia.

Areas of Special Interest

Adults and Children

Leber Hereditary Optic Neuropathy

Autosomal Dominant Optic Atrophy

Leo Donnan

Orthopaedics

Assoc Professor

leo.donnan@rch.org.au

03 93455522

Royal Children's Hospital Melbourne

Areas of Special Interest

Children

Musculoskeletal

John Christodoulou

clinical geneticist and genetic pathologist

Director, Genetics Research Theme

john.christodoulou@mcri.edu.au

3.99E+08

Murdoch Children's Research Institute

Areas of Special Interest

children

inborn errors of metabolism

Rett syndrome

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