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Srrm2 haploinsufficiency drives SynGAP-γ reduction, Agap3 mis-splicing, and oligodendrocyte deficits in a genetic mouse model of schizophrenia.
Aryal S, Geng C, Yin MA, et al. Srrm2 haploinsufficiency drives SynGAP-γ reduction, Agap3 mis-splicing, and oligodendrocyte deficits in a genetic mouse model of schizophrenia. Cell reports. 2026;45(6):117436. doi:10.1016/j.celrep.2026.117436
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Inverted Alu repeats in loop-out exon skipping across hominoid evolution.
Denisko D, Kim J, Ku J, Zhao B, Lee EA. Inverted Alu repeats in loop-out exon skipping across hominoid evolution. bioRxiv : the preprint server for biology. 2025. doi:10.1101/2025.03.07.642063
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Inverted Alu repeats in loop-out exon skipping across hominoid evolution.
Denisko D, Kim J, Ku J, Zhao B, Lee EA. Inverted Alu repeats in loop-out exon skipping across hominoid evolution. bioRxiv : the preprint server for biology. 2025. doi:10.1101/2025.03.07.642063
Read more
Covalent targeting of splicing in T cells.
Scott KA, Kojima H, Ropek N, et al. Covalent targeting of splicing in T cells. Cell chemical biology. 2024. doi:10.1016/j.chembiol.2024.10.010
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RPL22 is a tumor suppressor in MSI-high cancers and a splicing regulator of MDM4.
Weinstein HNW, Hu K, Fish L, et al. RPL22 is a tumor suppressor in MSI-high cancers and a splicing regulator of MDM4. Cell reports. 2024;43(8):114622. doi:10.1016/j.celrep.2024.114622
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RPL22 is a tumor suppressor in MSI-high cancers and a splicing regulator of MDM4.
Weinstein HNW, Hu K, Fish L, et al. RPL22 is a tumor suppressor in MSI-high cancers and a splicing regulator of MDM4. Cell reports. 2024;43(8):114622. doi:10.1016/j.celrep.2024.114622
Read more
Biosurfer for systematic tracking of regulatory mechanisms leading to protein isoform diversity.
Murali M, Saquing J, Lu S, et al. Biosurfer for systematic tracking of regulatory mechanisms leading to protein isoform diversity. bioRxiv : the preprint server for biology. 2024. doi:10.1101/2024.03.15.585320
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Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants.
Einson J, Glinos D, Boerwinkle E, et al. Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants. Genetics. 2023. doi:10.1093/genetics/iyad115
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Nova proteins direct synaptic integration of somatostatin interneurons through activity-dependent alternative splicing.
Ibrahim LA, Wamsley B, Alghamdi N, et al. Nova proteins direct synaptic integration of somatostatin interneurons through activity-dependent alternative splicing. eLife. 2023;12. doi:10.7554/eLife.86842
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Genetic analysis of isoform usage in the human anti-viral response reveals influenza-specific regulation of transcripts under balancing selection.
Ye CJ, Chen J, Villani AC, et al. Genetic analysis of isoform usage in the human anti-viral response reveals influenza-specific regulation of transcripts under balancing selection. Genome Res. 2018;28(12):1812-1825. doi:10.1101/gr.240390.118
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Ó³»­´«Ã½'s gene-editing technologies—CRISPR-Cas9, base editing, and prime editing—are being tested in more than 25 clinical trials to treat or cure leukemias, rare genetic diseases, high cholesterol, and other conditions.

NIH-funded discoveries from the Ó³»­´«Ã½ are powering nearly 20 clinical trials from companies testing new treatments for diseases like cancer and heart disease.

Ó³»­´«Ã½ developed a technology — partly supported by NIH funding —  that can detect trace amounts of cancer DNA from blood tests and help cancer patients find out their risk of disease recurrence earlier.

Using NIH funding, the Ó³»­´«Ã½â€™s Rare Genomes Project has worked with more than 1,300 families from all 50 U.S. states to diagnose rare genetic diseases.

Ó³»­´«Ã½ Clinical Labs has directly partnered with tens of thousands of cancer patients to analyze their DNA and accelerate research.

During the COVID-19 pandemic, Ó³»­´«Ã½ launched a large-scale diagnostic testing lab that processed over 37 million tests and saved state and federal programs nearly $2 billion.

The Ó³»­´«Ã½'s Cancer Dependency Map helps cancer researchers and drug developers discover therapeutic targets for new cancer treatments.

gnomAD, a large human genetic variant reference database developed by the Ó³»­´«Ã½ with NIH funding, has contributed to over 13 million genetic disease diagnoses since its launch in 2014.

Datasets generated at the Ó³»­´«Ã½ were used to train AlphaGenome, a cutting-edge AI model from Google DeepMind that predicts how genetic variants affect gene regulation.

the FDA granted accelerated approval for a lung cancer drug that was developed with Ó³»­´«Ã½ science and is for patients who otherwise had few treatment options.

David Liu and his team used NIH funding to invent precise gene-editing technologies, including one that may vastly improve access to genetic therapies for patients with rare disease.

NIH-funded Ó³»­´«Ã½ research is shedding new light on the biological roots of many diseases, including Alzheimer’s, Parkinson’s, and Huntington’s disease.

Scientists with Ó³»­´«Ã½â€™s Stanley Center for Psychiatric Research have found key genetic factors for schizophrenia and bipolar disorder.

Ó³»­´«Ã½ scientists are using AI to design new antibiotics and other drugs, predict drug toxicity, and pinpoint genes, molecules, and cells that might be causing disease.

Ó³»­´«Ã½ Clinical Labs has sequenced nearly 900,000 whole human genomes, producing, on average, one human genome sequence every three minutes.

Ó³»­´«Ã½ Clinical Labs developed a new method for genome sequencing that costs 75 percent less than existing methods.

 Ó³»­´«Ã½ Clinical Labs is the largest genome sequencing center of its kind in the world.

Ó³»­´«Ã½ Clinical Labs has partnered with MyOme and Southern Research Institute in Birmingham, Alabama to provide free genetic tests to people in Alabama.

Ó³»­´«Ã½ Clinical Labs has partnered with Mass General Brigham and Everygene to provide no-cost genetic testing to people throughout the US with cardiomyopathy, a disorder that can cause sudden cardiac death.

Ó³»­´«Ã½ Clinical labs and Mass General Brigham used data from NIH’s All of Us program to develop a genetic test that predicts risk of eight different heart conditions. This test is now available to patients.

Thanks to NIH funding, Ó³»­´«Ã½ Clinical Labs is collaborating with scientists across the U.S. to sequence DNA from tens of thousands of children with cancer and birth defects to study common biological pathways.

Ó³»­´«Ã½ Clinical Labs holds the world record for fastest DNA sequencing, completing whole genome sequencing and analysis in less than four hours at their facility in Burlington, Massachusetts.

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