Sandeep Wontakal
Johns Hopkins University, MD·Genetics·Early-career
Whole-genome sequencing can read a patient's entire DNA, but doctors still struggle to diagnose rare inherited conditions. One reason is that most variants fall in non-coding regions, stretches that do not make proteins and are hard to interpret.
- Fields
Genetics
Neuroscience
Biology
- Topics
long non-coding RNA
lncRNA
lep-5
- Grants
- 1 known grant, through Nov 2026
What they work on
- Identify the cis-regulatory elements, DNA control regions near the gene, that set when and where the long non-coding RNA lep-5 is expressed in C. elegans, using newly generated worm strains.
- Determine how the transcription factor lin-14 represses lep-5 expression during C. elegans development, using genetic and microscopy-based analysis.
- Identify the transcriptional activators that switch on lep-5, which is needed for sexual maturation of the male worm nervous system.
- Apply statistical genetics approaches to curate likely pathogenic non-coding variants in patients with neurodevelopmental disorders.
More about the research
Long non-coding RNAs (lncRNAs), RNA molecules that regulate genes without encoding proteins, have been linked to several inherited conditions, including neurodevelopmental disorders. Yet little is known about how these genes are normally switched on at the right time and place.
Why it matters
Many families with children affected by rare neurodevelopmental disorders get no genetic diagnosis because non-coding DNA variants are hard to interpret. Learning how a lncRNA needed for nervous system maturation is controlled, and curating likely disease-causing non-coding variants in patients, could improve how clinicians read whole-genome sequencing results for these conditions.
Known grants
From NIH and NSF research grants. Labs often have other funding we can't see.
Closest labs
Yungki Park
University at Buffalo, NY·Neuroscience
Determine whether Mef2d, a transcription factor that boosts the master regulator Olig2, controls Olig2 expression in oligodendrocyte-lineage cells in vivo.
Victor Ambros
University of Massachusetts Chan Medical School, MA·Genetics
Determine mechanistically how microRNAs, short noncoding RNAs that dampen other genes, work together with RNA-binding proteins to keep heterochronic gene network output accurate during C. elegans larval development.
Hannah Shorrock
University at Albany, NY·Genetics·Early-career
Measure how much of the human genome can undergo multi-frame translation (MFT), using a new reporter system that detects protein made in several reading frames, in a genome-wide screen.
The school
Johns Hopkins University: 100 labs on PI Pages, $4.1B a year on research, 622 research doctorates a year.
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