Lasseigne Lab

Lasseigne Lab

Because Science.

Causal variant identification in neurodegenerative disease

Identification of causal variants and genes in neurodegenerative disease

Variant Figure

Brittany’s 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. They 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. Their consortium was also recently part of identifying another new ALS gene, KI5FA, bolstering the role of cytoskeletal defects in ALS pathogenesis. Additionally, Brittany is 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.

Associated Publications

A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS

Genome-wide analyses identify KIF5A as a novel ALS gene

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

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