Ariadne Letra
University of Pittsburgh, PA·Genetics
Inherited DNA differences shape the risk of common conditions in and around the mouth, from birth defects of the lip and palate to dental disease. They may even help explain why dental disease seems to go hand in hand with conditions like diabetes.
- Fields
Genetics
Medicine & Clinical Research
Public Health & Epidemiology
- Topics
cleft lip and palate
nonsyndromic cleft lip with or without cleft palate
orofacial clefts
- Grants
- 2 known grants, through Feb 2030
What they work on
- Determine the genetic architecture of familial cleft lip and palate (NSCLP) by combining linkage, case-control association and polygenic risk score analyses of whole genome sequences from 172 multigenerational families and additional datasets.
- Screen prioritized NSCLP variants in cell-based assays to find which ones alter gene function, addressing the gap between spotting a variant and knowing whether it matters.
- Test how prioritized NSCLP variants change development in zebrafish embryos, linking specific DNA differences to physical changes in a living animal.
- Identify gene variants associated with combined dental and systemic disease phenotypes, such as dental disease plus diabetes or cardiovascular disease, using clinical and genomic data from over 200,000 All of Us participants.
- Determine whether higher polygenic risk, the summed effect of many common variants, increases the likelihood of having dental and systemic disease together.
More about the research
Two projects pursue these questions using large genome datasets. One searches whole genomes of affected families for variants behind cleft lip and palate and tests what those variants do. The other mines a national health database for shared genetic roots of dental and whole-body disease.
Why it matters
Families affected by cleft lip and palate currently receive limited genetic risk information. Finding which variants actually change development could lay groundwork for better risk assessment and more precise genetic counseling. Clarifying whether shared genes link dental disease with diabetes and cardiovascular disease could help integrate oral and general health care and inform precision dental medicine.
Known grants
From NIH and NSF research grants. Labs often have other funding we can't see.
Closest labs
Gary Beecham
Wake Forest University, NC·Genetics
Identify new genetic variants linked to early-onset Alzheimer's disease without APP, PSEN1 or PSEN2 mutations, using whole-genome sequencing with family linkage and case-control association analyses.
Vikas Pejaver
Icahn School of Medicine at Mount Sinai, NY·Genetics
Apply the team's previously developed variant impact predictors to large NIH Common Fund genomic data sets, such as Gabriella Miller Kids First and the Undiagnosed Disease Network, to identify known and predicted disease-associated variants.
Sai Zhang
Yale University, CT·Genetics
Develop a sequence-based deep learning model, trained on single-cell and individual-level data, that predicts gene expression from DNA sequence and estimates how genetic variants alter gene activity in each cell type.
The school
University of Pittsburgh: 83 labs on PI Pages, $1.5B a year on research, 403 research doctorates a year.
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