Steven J Lubbe

  • 3846 Citations
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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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  • 2 Similar Profiles
Colorectal Neoplasms Medicine & Life Sciences
Parkinson Disease Medicine & Life Sciences
Genome-Wide Association Study Medicine & Life Sciences
Mutation Medicine & Life Sciences
Genes Medicine & Life Sciences
Microsatellite Instability Medicine & Life Sciences
Alleles Medicine & Life Sciences
Single Nucleotide Polymorphism Medicine & Life Sciences

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Research Output 2006 2019

  • 3846 Citations
  • 52 Article
  • 3 Letter
  • 1 Review article
3 Citations (Scopus)

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., Jan 1 2019, In : Cold Spring Harbor Molecular Case Studies. 5, 3, a003913.

Research output: Contribution to journalArticle

Open Access
Frontotemporal Dementia
Amyotrophic Lateral Sclerosis
2 Citations (Scopus)

Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study

Carecchio, M., Invernizzi, F., Gonzàlez-Latapi, P., Panteghini, C., Zorzi, G., Romito, L., Leuzzi, V., Galosi, S., Reale, C., Zibordi, F., Joseph, A. P., Topf, M., Piano, C., Bentivoglio, A. R., Girotti, F., Morana, P., Morana, B., Kurian, M. A., Garavaglia, B., Mencacci, N. E. & 2 others, Lubbe, S. J. & Nardocci, N., Oct 1 2019, In : Movement Disorders. 34, 10, p. 1516-1527 12 p.

Research output: Contribution to journalArticle

Cohort Studies
Dystonic Disorders
Intellectual Disability
8 Citations (Scopus)

Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies

International Parkinson's Disease Genomics Consortium, 23andMe Research Team & System Genomics of Parkinson's Disease Consortium, Dec 2019, In : The Lancet Neurology. 18, 12, p. 1091-1102 12 p.

Research output: Contribution to journalArticle

Genome-Wide Association Study
Parkinson Disease
Random Allocation
8 Citations (Scopus)

The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson's disease

The International Parkinson's Disease Genomics Consortium (IPDGC), Apr 1 2019, In : Movement Disorders. 34, 4, p. 460-468 9 p.

Research output: Contribution to journalArticle

Parkinson Disease
Mendelian Randomization Analysis
Biological Phenomena
1 Citation (Scopus)

The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight

The American Genome Center & on behalf of the International Parkinson Disease Genomics Consortium, Dec 1 2019, In : Movement Disorders. 34, 12, p. 1851-1863 13 p.

Research output: Contribution to journalArticle

Parkinson Disease
Genome-Wide Association Study