Steven J Lubbe

  • 3606 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


  • Cancer Genetics
  • Genetics
  • Melanoma
  • Movement Disorders
  • Neurology
  • Neuroscience
  • Parkinson’s Disease

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Research Output 2006 2018

  • 3606 Citations
  • 46 Article
  • 3 Letter
  • 1 Review article
1 Citation (Scopus)

LRP10 in α-synucleinopathies

International Parkinson's Disease Genomics Consortium, Dec 1 2018, In : The Lancet Neurology. 17, 12, 1 p.

Research output: Contribution to journalLetter

8 Citations (Scopus)

Recessive mutations in >VPS13D cause childhood onset movement disorders

Gauthier, J., Meijer, I. A., Lessel, D., Mencacci, N. E., Krainc, D., Hempel, M., Tsiakas, K., Prokisch, H., Rossignol, E., Helm, M. H., Rodan, L. H., Karamchandani, J., Carecchio, M., Lubbe, S. J., Telegrafi, A., Henderson, L. B., Lorenzo, K., Wallace, S. E., Glass, I. A., Hamdan, F. F. & 3 othersMichaud, J. L., Rouleau, G. A. & Campeau, P. M., Jun 1 2018, In : Annals of neurology. 83, 6, p. 1089-1095 7 p.

Research output: Contribution to journalArticle

Movement Disorders
Leigh Disease
Spastic Paraparesis
3 Citations (Scopus)

A PDE10A de novo mutation causes childhood-onset chorea with diurnal fluctuations

Esposito, S., Carecchio, M., Tonduti, D., Saletti, V., Panteghini, C., Chiapparini, L., Zorzi, G., Pantaleoni, C., Garavaglia, B., Krainc, D., Lubbe, S. J., Nardocci, N. & Mencacci, N. E., Nov 1 2017, In : Movement Disorders. 32, 11, p. 1646-1647 2 p.

Research output: Contribution to journalLetter

25 Citations (Scopus)

Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing

International Parkinson's Disease Genetics Consortium (IPGDC), Jan 30 2017, In : Genome biology. 18, 1, 22.

Research output: Contribution to journalArticle

Parkinson disease
Parkinson Disease
1 Citation (Scopus)

Early Onset Parkinson's Disease in a family of Moroccan origin caused by a p.A217D mutation in PINK1: A case report

Norman, B. P., Lubbe, S. J., Tan, M., Warren, N. & Morris, H. R., Aug 8 2017, In : BMC Neurology. 17, 1, 153.

Research output: Contribution to journalArticle

Parkinson Disease
Parkinsonian Disorders
Founder Effect