Genetic Disorders of Human Neurological and Immune Function

 Neurology / Posted 1 year ago

We are carrying out research into conditions that affect the brain and / or the immune system. The disorders that we are interested in most likely arise due to changes in genes (or DNA); genes are like recipe books, telling the cells in our body how to make chemicals called proteins. The aim of our work is to understand how changes in the genes and proteins involved in these conditions cause disease. This is not understood at present, and so this research will provide new and important information. We believe that a better understanding of the cause of these diseases will bring us closer to developing ‘smart’ treatments for people affected by, or at risk of, these genetic conditions.

The study is likely to take several years to complete and there may be no direct benefit from this research to your child. There would also not be any financial benefit. However, we hope that this work will eventually lead to better methods of diagnosis and treatment for patients affected with the disorders under study.

Please speak to your clinician if you are interested in this study and your child has received a diagnosis of: Aicardi-Goutières syndrome, interferonopathies, Coats plus, and Leukoencephalopathy with calcifications and cysts.

  • Inclusion Criteria :
    • Individuals will either be affected by or have a family history of a disorder involving the neurological and / or immune system. The particular disorder under study will be considered to likely have a significant genetic component to the causation. Controls will be unaffected by the study condition under investigation.
  • Exclusion Criteria : There are no exclusion criteria beyond controls not being affected by the relevant study disease.
  • Study start date : 01/07/2011
  • Study end date : 31/12/2028
  • Wales-Based Study Contact : Julian Sampson
  • Principal Investigator : Yanick Crow

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