Grants per year
Personal profile
Research Interests
My research is primarily focused on using a vast array of bioinformatic and computational approaches (including machine learning) to analyse large-scale –omics data to further our understanding of the genomics of Parkinson's disease, dystonia and other movement disorders. By integrating genetic data (whole genome/exome, GWAS and/or rare variant genotype data) with brain expression, regulatory data etc. the main aim of my lab is to identify novel variants and/or genes associated with disease causality or disease susceptibility. My lab has a very close working relationship with the Movement Disorders Clinic, the Neurogenetics Clinic and the Parkinson's Disease and Movement Disorders Center Biorepository at Northwestern Medicine where we work together with clinicians, patients and their families to investigate the genetics of disease segregating in families seen at the clinics through the assessment of whole genome/exome data. This close connection with the clinic allows my lab to identify potential genetic modifiers of disease onset, disease progression etc. through the analysis of detailed clinical/phenotypic data that is linked to genetic data. Another interest of my lab is investigating the shared genetic background between Parkinson's disease and cutaneous malignant melanoma that has been proposed by numerous epidemiological studies. Using the same approach mentioned above, we aim to identify genes/variants that influence the etiology of both diseases in carriers. A secondary aim of this approach will be to assess the role that skin and neuro-pigmentation has in Parkinson's disease pathogenesis. Candidate variants/genes will be investigated functionally to elucidate their direct role in disease etiology.
Education/Academic qualification
PhD, Institute of Cancer Research, United Kingdom
… → 2011
MSc, University of Witwatersrand, South Africa
… → 2004
Research interests
- Cancer Genetics
- Genetics
- Melanoma
- Movement Disorders
- Neurology
- Neuroscience
- Parkinson’s Disease
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Network
Grants
- 2 Active
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Functional investigation of the role of TYR mutations and neuromelanin in Parkinson's disease
Burbulla, L., Krainc, D. & Lubbe, S. J.
9/30/20 → 8/31/21
Project: Research project
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Mechanisms of gene regulation and RNA processing in synucleinopathies
National Institute of Neurological Disorders and Stroke
7/1/20 → 6/30/25
Project: Research project
Research Output
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Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders
UK Brain Expression Consortium & International Parkinson's Disease Genomics Consortium, Sep 1 2020, In: Brain. 143, 9, p. 2771-2787 17 p.Research output: Contribution to journal › Article › peer-review
6 Scopus citations -
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities
Genomics England Research Consortium, Nov 1 2020, In: Annals of neurology. 88, 5, p. 867-877 11 p.Research output: Contribution to journal › Article › peer-review
Open Access13 Scopus citations -
Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information
International Parkinson’s Disease Genomics Consortium (IPDGC) & UK Brain Expression Consortium (UKBEC), Dec 1 2020, In: Nature communications. 11, 1, 1041.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
The IMAGEN study: a decade of imaging genetics in adolescents
IMAGEN consortium, Nov 1 2020, In: Molecular Psychiatry. 25, 11, p. 2648-2671 24 p.Research output: Contribution to journal › Review article › peer-review
Open Access4 Scopus citations -
A novel TBK1 mutation in a family with diverse frontotemporal dementia spectrum disorders
Lamb, R., Rohrer, J. D., Real, R., Lubbe, S. J., Waite, A. J., Blake, D. J., Jon Walters, R., Lashley, T., Revesz, T., Holton, J. L. & Morris, H. R., 2019, In: Cold Spring Harbor Molecular Case Studies. 5, 3, a003913.Research output: Contribution to journal › Article › peer-review
Open Access10 Scopus citations