Investigating the causes of neurodegenerative diseases through large-scale genomics.
The Lubbe Lab focuses on integrating large-scale patient genetic data (whole genome/exome sequencing, genome-wide association study and/or rare variant genotype data) with several other detailed omics data to further our understanding of the underlying genetic causes of Parkinson's disease, dystonia and other movement disorders. To do this, we utilize a vast array of complex bioinformatic and computational approaches, including machine learning, to assess multiple data sources and to identify novel variants and/or genes associated with disease causality or disease susceptibility. By investigating the shared genetic background between Parkinson's disease and cutaneous malignant melanoma, we aim to find variants and genes that increase the chances of getting both diseases in carriers and to elucidate the role of pigmentation (peripheral melanin and neuromelanin) in Parkinson's disease biology. Together, we hope that our genetic investigations may drive novel therapeutic target identification.
By partnering with clinicians and the patients and families at our affiliated sites, we have successfully identified genetic causes of movement disorders found in families by assessing variants exclusively present in affected family members. Our unique setting in an academic medical center allows us to continue to identify and characterize genetic causes of disease.