The Neurodegenerative Diseases Research Unit (NDRU) focuses on atypical parkinsonism syndromes to unravel molecular genetic mechanisms involved in the pathophysiology of parkinsonism, to study molecular relationships to more common neurodegenerative diseases and to discover targets for rational therapeutic development. NDRU is highly-collaborative and data-driven, combining interdisciplinary clinical and genomic research toward improving knowledge about parkinsonism syndromes. Over the last year, we have undertaken three main projects. 1. Genetic characterization of pathologically confirmed neurodegenerative diseases: We performed genotyping of pathologically confirmed neurodegenerative diseases using the Illumina NeuroChip array. These data are being used for machine learning applications and genotype-phenotype correlations. 2. Genome sequencing of non-Alzheimer dementia cases and neurologically healthy individuals: NDRU is a leading member of an ambitious intramural genome sequencing project that will generate a unique resource for genetic research. Specifically, this project will produce genome sequence data of 3000 Lewy body dementia cases, 3000 frontotemporal dementia cases and 2000 neurologically healthy controls. The overall aim of this ongoing project is to expand genetic discovery efforts to non-Alzheimer dementias. All data will be made available to the research community. 3. Genome-wide association study in multiple system atrophy: To investigate common genetic variants in multiple system atrophy, we are currently performing a follow up genome-wide association study.

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Nicolas, Aude (see original citation for additional authors) (2018) Genome-wide Analyses Identify KIF5A as a Novel ALS Gene. Neuron 97:1268-1283.e6
Guerreiro, Rita; Ross, Owen A; Kun-Rodrigues, Celia et al. (2018) Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study. Lancet Neurol 17:64-74
Blauwendraat, Cornelis; Reed, Xylena; Kia, Demis A et al. (2018) Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease. JAMA Neurol :
Blauwendraat, Cornelis; Kia, Demis A; Pihlstrøm, Lasse et al. (2018) Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease. Neurobiol Aging 64:159.e5-159.e8
Chen, Xi; Scholz, Sonja W (2018) Identification of new ?-synuclein regulator by nontraditional drug development pipeline. Mov Disord 33:402
Scholz, Sonja W; Houlden, Henry (2017) Author response: A genome-wide association study in multiple system atrophy. Neurology 88:1296-1297
Geiger, Joshua T; Schindler, Alice B; Blauwendraat, Cornelis et al. (2017) TUBB2B Mutation in an Adult Patient with Myoclonus-Dystonia. Case Rep Neurol 9:216-221
Blauwendraat, Cornelis; Faghri, Faraz; Pihlstrom, Lasse et al. (2017) NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases. Neurobiol Aging 57:247.e9-247.e13
Scholz, Sonja W (2017) Restless legs syndrome: is it all in the genes? Lancet Neurol 16:859-860
Blauwendraat, Cornelis; Nalls, Mike A; Federoff, Monica et al. (2017) ADORA1 mutations are not a common cause of Parkinson's disease and dementia with Lewy bodies. Mov Disord 32:298-299

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