Matthew Maurano
New York University, NY·Genetics
Most genetic variation linked to common human diseases lies not in genes but in noncoding DNA, the stretches that control when and how strongly genes turn on. These regulatory regions are hard to study.
- Fields
Genetics
Biology
Neuroscience
- Topics
regulatory genomics
noncoding DNA
gene regulation
- Grants
- 2 known grants, through Nov 2028
What they work on
- 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.
- Test pairs of short (about 1 kb) candidate enhancer sequences from different species in combination to uncover the rules, or syntax, by which regulatory DNA controls genes across evolution.
- Fine-map regulatory activity at the human-specific repeat in intron 3 of CACNA1C, a brain calcium-channel gene linked to schizophrenia and bipolar disorder, using Fiber-seq long-read accessibility profiling.
- Dissect how repeat structure, unit content and length shape CACNA1C regulation with synthetic regulatory genomics, and screen other repeats near relevant genes genome-wide in cultured cells.
More about the research
They change quickly over evolution, and editing large pieces of DNA has been difficult. The lab developed Big-IN, a genome engineering technology that rewrites large genomic regions in place by delivering DNA payloads of up to about 160 kilobases (160,000 DNA letters). Both projects use this "synthetic regulatory genomics" approach: they rebuild regulatory DNA in cells and measure how it works.
Why it matters
Most genetic risk for common diseases, including psychiatric disorders such as schizophrenia and bipolar disorder, lies in noncoding DNA that is hard to interpret. Testing how regulatory sequences, including the CACNA1C repeat, control genes could show how faulty gene regulation leads to disease. It could also provide a basis for new disease models, including human regulatory DNA studied in mouse cells.
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.
Harriet Dashnow
University of Colorado Denver/Anschutz Medical Campus, CO·Genetics·Early-career
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.
Caroline Dias
University of Colorado Denver/Anschutz Medical Campus, CO·Genetics
Profile cell-type-specific gene expression in post-mortem brain tissue from individuals with Fragile X syndrome, using single-cell sequencing.
The school
New York University: 72 labs on PI Pages, $1.5B a year on research, 540 research doctorates a year.
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