Research
—Isaac Asimov
Current Interests
Alzheimer's disease
Alzheimer's disease is well known for its symptoms involving memory loss, and is the only top disease lacking a meaningful treatment. We want to contribute to Alzheimer's disease research: (1) help develop a meaningful treatment, and (2) develop a pre-symptomatic disease diagnostic because, unlike other diseases, the body can't heal from neurodegenerative diseases like Alzheimer's disease—once sympotoms onset, it's too late. Dr. Ebbert has a strong background in developing disease diagnostics. We are performing a long-read DNA and RNA sequencing in large Alzheimer's disease cohorts to identify "structural" DNA variants (≥50 contiguous nucleotides) and aberrant RNA isoforms directly involved in disease.
Genomics
We're fascinated with genomics. Genomics is foundational to understanding human health and disease (or biology of any kind). We, along with our collaborators, seek to improve our understanding of the human genome and downstream factors. We are specifically focused on characterizing and understanding structural DNA variants (≥50 contiguous nucleotides) and RNA isoforms. For example, the top genes implicated in Alzheimer's disease average ~12 RNA isoforms; RNA sequencing studies have historically treated all of these isoforms as a single "gene", which is a major oversimplification of the underlying biology. We're working to better understand how these isoforms vary across tissue, cell type, and disease.
Key Publications
—Anton Chekhov
