Brain scans to give crucial insight into childhood genetic disease
15 January 2025
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An international team of scientists are to use thousands of MRI brain scans from research teams around the world in a bid to study Neurofibromatosis Type 1 (NF1), a lifelong neurological condition.
Led by researchers at The University of Manchester and Manchester University NHS Foundation Trust (MFT), alongside researchers in Australia and the United States, the study will enable researchers to track changes in brain structure over time in children and young people with NF1.
The research is funded by a £2.2 million award from the US Department of Defence and is the largest investigation into brain development in NF1 to date. Using advanced machine-learning techniques, the team will analyse the brain structure of over 10,000 MRI scans, comparing them to healthy individuals of the same age.
By doing that, they will shine a light on how specific genetic changes affect the brain and how alterations in brain structure may predict learning difficulties outcomes.
The Children’s Hospital of Philadelphia, the Murdoch Research Institute in Melbourne and the Complex NF1 Service hosted by the Manchester Centre for Genomic Medicine at Saint Mary’s Hospital, part of MFT, which is a world leading centre for clinical care and research in NF1, have all signed up to the project.
NF1 affects approximately 1 in 2,500 children. Although the severity of the condition varies from person to person, about half of all children affected by the condition may have difficulties with learning, autism or ADHD.
Dr Shruti Garg, Senior Lecturer at The University of Manchester and National Institute for Health and Care Research (NIHR) Manchester Biomedical Research Centre (BRC) Mental Health Theme Capacity Development Lead, is leading the international research.
– Karen Cockburn, Charity Director"We fully endorse this extremely important global project, and the work of Dr Shruti Garg, who is also a member of the charity’s Medical Advisory Board. This research and its potential findings will be of huge benefit for the NF1 community."
Dr Garg, who is also Honorary Consultant Child and Adolescent Psychiatrist at the Royal Manchester Children’s Hospital, part of MFT said: “Learning and behavioural difficulties in NF1 can profoundly impact the quality of lives of affected children and young people. This funding provides a crucial opportunity for researchers to deepen our understanding of how changes in the NF1 gene impact brain development.
“Just like ‘growth-charts’ are widely used to monitor children’s physical growth, our research will enable us to create NF1-specific ‘brain charts’ to serve as a reference for age-related changes in brain structure.”
Dr Nils Muhlert, Senior Lecturer in Psychology and Neuroanatomy at the University of Manchester said: “This project is a powerful illustration of collaboration across the world, and we are tremendously excited about what it might achieve.”
Karen Cockburn, Charity Director of Nerve Tumours UK, said: “We fully endorse this extremely important global project, and the work of Dr Shruti Garg, who is also a member of the charity’s Medical Advisory Board. This research and its potential findings will be of huge benefit for the NF1 community.”
Dr Grace Vassallo, Consultant Paediatric Neurologist and Clinical Lead for the Complex NF1 Service at the Manchester Centre for Genomic Centre for Medicine at Saint Mary’s Hospital, said: “We are incredibly grateful for this unique opportunity to collaborate in cutting edge research into the developing NF Brain charts which will in future improve the clinical care for children and young people with NF1.” *
Get Involved
Nerve Tumours UK continues to work closely with Dr Shruti Garg and her team at The University of Manchester and Manchester University NHS Foundation Trust (MFT), results from these research projects, much of which is based on findings from within the community, are shared with medical professionals as well as our own Specialist NF Nurse Network, to further help and support those living with the condition. They also allow us the opportunity to improve the information for carers, educational bodies and employers as well as all associated medical professionals.
This funding provides a crucial opportunity for researchers to deepen our understanding of how changes in the NF1 gene impact brain development.
Dr Shruti Garg, Senior Lecturer at The University of Manchester
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The following research projects are still ongoing - interested to participate?
NF1 Non Invasive Brain Stimulation
Many young people with Neurofibromatosis Type 1 (NF1) experience daily problems with learning, paying attention in the classroom and concentrating. We don’t have many treatments for these difficulties at the moment. - Get involved and support children with NF to learn better.
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Eden P Study
Participants required for a research study for pregnant women who have a family history of Neurofibromatosis Type 1 The University of Manchester, continues its study to try to understand pregnancy experiences and early brain development of babies born to parents who have NF1.
Participate– Dr. Shruti Garg"Thank you so much to the NF community for contributing to the parent and young people’s focus groups and participating in the research studies. Your contribution will help us make new discoveries and bring new treatments to clinics, particularly for the learning difficulties associated with NF1"
New Research Study for Children and Young People with NF1
Find out more about the study and how you can participate here
Find out more