Harriet Dashnow
University of Colorado Denver/Anschutz Medical Campus, CO·Genetics·Early-career
Some genetic diseases are caused by short stretches of DNA that repeat too many times. These short tandem repeats (STRs) are DNA sequences of 1–6 letters repeated in a row.
- Fields
Genetics
Computer Science
- Topics
short tandem repeats
repeat expansion disorders
rare disease
- Grants
- 1 known grant, through May 2027
What they work on
- Build a public, population-scale catalog of short tandem repeat variation grouped by ancestry, emphasizing diverse and underserved populations, so disease-causing repeat expansions can be prioritized.
- Develop a method to genotype short tandem repeats from Oxford Nanopore long-read sequencing, combining read alignment with repeat detection and integrating evidence across reads while correcting for technology biases.
- Diagnose patients and discover new disease-linked repeats by analyzing short- and long-read sequencing from rare disease groups, including the Undiagnosed Diseases Network.
More about the research
They vary greatly between people, and expansions in dozens of them cause disease. STRs are hard to sequence and interpret, so many patients with STR diseases go undiagnosed. In rare disease studies, doctors usually filter out variants that are common in population databases such as gnomAD. However, no genome-wide database exists for large STR expansions.
Why it matters
Many patients with rare genetic diseases caused by repeat expansions remain undiagnosed. This work aims to give hundreds of patients a genetic diagnosis. A public STR catalog that includes diverse ancestries could help clinicians and researchers worldwide rule out harmless repeats and find disease-causing ones, especially for underserved populations.
Known grants
From NIH and NSF research grants. Labs often have other funding we can't see.
Closest labs
Melissa Gymrek
University of California-San Diego, CA·Genetics
Develop scalable methods for tandem repeat (TR)-based GWAS that genotype repeats directly from UK Biobank and All of Us whole genome sequences, producing a catalog of TRs linked to complex traits.
Matthew Maurano
New York University, NY·Genetics
Measure regulatory activity of matching DNA from 5 vertebrate species at model loci in mouse embryonic stem cells, using Big-IN genome engineering to swap whole regions of up to 160 kb in place of the mouse locus.
Alan P Boyle
University of Michigan, MI·Genetics
Quantify how transposable element activity changes binding of CTCF, a protein that anchors DNA loops, across a population sample of 51 well-studied individuals using computational methods.
The school
University of Colorado Denver/Anschutz Medical Campus: 41 labs on PI Pages, $766M a year on research, 205 research doctorates a year.
More about University of Colorado Denver/Anschutz Medical Campus
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