Causal variant identification in neurodegenerative disease

My first postdoc project was a highly collaborative effort with Drs. Rick Myers and Greg Cooper (HudsonAlpha), Liz Cirulli (Duke), David Goldstein (Columbia), and Biogen Idec to sequence almost 3,000 amyotrophic lateral sclerosis (ALS) patient exomes to identify new genes contributing to ALS risk. We confirmed several known ALS genes and identified TBK1 as a novel ALS gene, revealing a key role of the autophagic pathway in ALS etiology and suggesting specific targets for therapeutic intervention. Our consortium was also recently part of identifying another new ALS gene, KI5FA, bolstering the role of cytoskeletal defects in ALS pathogenesis [4]. Additionally, I am part of a team of scientists, genetic counselors, and neurologists analyzing clinical whole genomes of patients affected with Alzheimer disease or frontotemporal dementia to identify causal variants and genes.

Publications

. Regional collapsing of rare variation implicates specific genic regions in ALS. bioRxiv, 2018.

Preprint Project

. Genome-wide analyses identify KIF5A as a novel ALS gene. Neuron, 2018.

PDF Project

. Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways. Science, 2015.

PDF Project Slides