Kimberley Billingsley, Ph.D.

The Translational Neurogenetics Unit (TNU) aims to uncover the genetic and molecular drivers of neurodegenerative diseases, including Alzheimer's disease (AD), Parkinson's disease (PD) and related dementias, by resolving the parts of the genome and transcriptome that conventional short-read sequencing cannot see. Much of the heritable risk for these diseases remains unexplained, and a substantial share is likely hidden in structural variants, repeat expansions, transposable elements and transcript isoforms that are difficult to characterize with standard approaches.

To address this, our unit applies long-read sequencing at scale to human brain tissue and other samples from large, diverse cohorts. Our work focuses on three main areas: using long-read genome sequencing to identify structural variants and repeat expansions that contribute to disease risk; building detailed maps of the full-length RNA isoforms expressed in the human brain; and integrating long-read DNA, RNA, methylation and RNA modification data with other molecular measurements to understand how genetic variation shapes gene regulation and protein diversity in neurodegenerative disease.

Our unit works closely with the CARD Long-Read Sequencing Initiative, which generates and processes long-read data across major brain cohorts, and our data and tools are shared with the research community through controlled-access resources such as AnVIL and dbGaP.

Kimberley Billingsley is a human geneticist specializing in neurodegenerative disease and long-read genomics. She earned her PhD from the University of Liverpool for her work on transposable elements, a class of structural variant, in Parkinson's disease. She then joined the Laboratory of Neurogenetics and the Center for Alzheimer's and Related Dementias (CARD) at the National Institute on Aging, where she trained under Andrew Singleton and contributed to large-scale genetic studies of PD and AD. At CARD she established and directs the Long-Read Sequencing Initiative, which has generated one of the world's largest long-read neurogenomics datasets across cohorts including NABEC, HBCC, ROSMAP, the NIH NeuroBioBank and PPMI. Together with collaborators at the National Cancer Institute, the University of California, Santa Cruz, Baylor College of Medicine and Northeastern University, she has developed methods for scalable long-read data generation and analysis. She is a recipient of the William H. Gates Sr. Alzheimer's Disease Fellowship through the Alzheimer's Disease Data Initiative. She is currently a Stadtman Tenure-Track Investigator at CARD, where she leads the Translational Neurogenetics Unit.