lay-summaries-group-genetic | BRAIN UK | University of Southampton

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

BRAIN UK Study Ref	Lay Summary	Project 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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