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The University of Southampton

Lay Summaries of studies supported by BRAIN UK by category: Genetic Disorders

 BRAIN UK Study RefLay SummaryProject Status
 11/006 Comparative study of the neuropathology in Huntington’s disease brains Closed
 12/006 The impact of mitochondrial DNA mutations on substantia nigra neurons Active
 13/011 DNA polymorphisms in mental illness (DPIM) Closed
 15/002 Investigating cortical development in Trisomy 21 Closed
 15/008 Investigating the role of Astrocytes and Microglia in the development of Alzheimer's Disease in Down Syndrome Closed
 16/001 Investigation of the role of the c-MET proto-oncogene and the PI3K/AKT/mTOR pathway in brain metastasis. Active
 16/002 Multi-platform analysis of TSC Subependymal Giant Cell Astrocytoma (SEGA) to identify novel therapeutic approaches. Active
 16/012 DNA/RNA instability in spinal muscular atrophy Closed
 17/011 Tau and A2AR expression in Alexander’s disease Active
 18/007 Charcot-Marie-Tooth Disease and related disorders: A Natural History Study Active
 18/011 Investigation of cerebellar ataxia Closed
 19/008 C1q in Huntington’s disease Closed
 19/014 PURA syndrome patient tissue sample banking for histopathological and molecular analysis Active
 19/019 Social Neuropeptide Dysfunction in Fragile X Syndrome Closed
 20/003 Cellular and genetic pathomechanisms of central pontine myelinolysis Active
 21/009 Alpha-synuclein in Krabbe disease Closed
 21/016 Brain involvement in dystrophinopathies Active
 21/018 In-depth characterisation of muscle pathology in female carriers of dystrophinopathy Active
 21/020 Developing novel diagnostic and functional mitochondrial assays in muscle and skin biopsies using combinatorial immunohistochemical, in situ hybridisation and proteomic-based techniques Active
 21/021 Are vascular defects present in the spinal cord of Spinal Muscular Atrophy patients? Active
 22/007 Alpha-synuclein pathology in metachromatic leukodystrophy Active
 23/003 Investigating the genetic basis of nutritional optic and sensory neuropathy in black African and Caribbean communities in the UK Active
 23/004 Studying the pathogenesis of Huntington’s disease in post-mortem tissues Active
 23/021 Expression of OxR1 in hypothalamus and pons from normal donors and those with Prader-Willi Syndrome (PWS) Active
 23/026 Genome and transcriptome analysis in DRPLA, other rare repeat expansion disorders and undiagnosed inherited ataxia tissue Active


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