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