Caroline Dias
University of Colorado Denver/Anschutz Medical Campus, CO·Genetics
A stretch of DNA that repeats the same three letters over and over can grow longer from one generation to the next. At the FMR1 gene, this kind of trinucleotide repeat expansion causes Fragile X syndrome, a leading inherited cause of autism and neurodevelopmental disorders.
- Fields
Genetics
Neuroscience
Medicine & Clinical Research
- Topics
Fragile X syndrome
Fragile X-associated tremor/ataxia syndrome
trinucleotide repeat expansion
- Grants
- 2 known grants, through Jan 2031
What they work on
- Profile cell-type-specific gene expression in post-mortem brain tissue from individuals with Fragile X syndrome, using single-cell sequencing.
- Measure mosaicism in FMR1 repeat length and methylation across brain cells of Fragile X syndrome patients with long-read sequencing, to assess whether this variability could be harnessed therapeutically.
- Map patterns of FMR1 premutation repeat instability in human brain tissue from people with FXTAS, using new long-read sequencing and analytic approaches.
- Identify the genetic and cellular mechanisms that drive FMR1 repeat instability and gene regulation in the human brain, and relate them to the clinical variability of FXTAS.
More about the research
A smaller 'premutation' expansion at the same gene causes Fragile X-associated tremor/ataxia syndrome (FXTAS), a late-onset neurological disorder. Although the genetic cause has been known for decades, there are no targeted treatments. Animal and cell models do not fully capture how the repeat behaves in the human brain. Both projects therefore study FMR1 repeats directly in human brain tissue, using single-cell and long-read DNA sequencing.
Why it matters
Fragile X syndrome and FXTAS have no available treatments, and the FMR1 premutation is relatively common. Understanding how the FMR1 repeat varies and behaves across human brain cells could point to new therapeutic strategies. It could also explain why symptoms differ between patients and improve clinical care. The findings may extend to other neurological repeat expansion disorders.
Known grants
From NIH and NSF research grants. Labs often have other funding we can't see.
Closest labs
Matthew W Mosconi
University of Kansas, KS·Neuroscience
Test whether premutation carriers with FXTAS show greater motor variability in hand control, postural control and gait, alongside reduced visual cortex–cerebellar Crus I functional connectivity on task-based fMRI, compared with carriers without FXTAS and healthy controls.
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.
John Edwards
Washington University in St Louis, MO·Neuroscience
Develop a nanopore long-read sequencing method that simultaneously and accurately profiles 5-methylcytosine and 5-hydroxymethylcytosine in both CG and non-CG contexts across gene promoters and gene bodies.
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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