Research on Neurofibromatosis type 1 (NF1) in Australia is focused on understanding the condition's symptoms, treatment options, and improving the quality of life for affected individuals. Here are some key areas of research being conducted:

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• Early Diagnosis and Intervention: Research is being led by Dr. Gaby Dabscheck to improve early diagnosis and access for children and families affected by NF1. This includes identifying at-risk infants by Maternal Child Health Care Nurses and co-designed solutions for early diagnosis and service access. 

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• Treatment and Management: The Murdoch Children's Research Institute is conducting studies to test if the drug trametinib can shrink tumors and reduce the incidence or severity of brain cancer caused by NF1. This research aims to provide a potential treatment option for children with NF1. 

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• Autism and ADHD: Research is being conducted to better understand and identify autistic symptoms, ADHD, and learning problems in children with NF1. This includes investigating how these developmental problems impact daily functioning and quality of life. 

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• Brain Cancer: The Children's Tumour Foundation of Australia is working on a blood test to diagnose a cancer in NF1 called malignant peripheral nerve sheath tumour by exploring genetic changes that lead to it. 

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• Reproductive Health: Research is being expanded to assist women with NF1 to understand any risks to tumour growth and development associated with pregnancy. 

  
  These research efforts aim to provide better support for affected children and families, improve treatment options, and ultimately find a cure for NF1.