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Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease.

Martin-Geary AC, Blakes AJM, Dawes R, et al. Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.09.12.23295416

Advancing Understanding of Inequities in Rare Disease Genomics.

Serrano JG, O’Leary M, VanNoy GE, et al. Advancing Understanding of Inequities in Rare Disease Genomics. Clinical therapeutics. 2023. doi:10.1016/j.clinthera.2023.06.010

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ӳ��ý'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 ӳ��ý are powering nearly 20 clinical trials from companies testing new treatments for diseases like cancer and heart disease.

ӳ��ý 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 ӳ��ý’s Rare Genomes Project has worked with more than 1,300 families from all 50 U.S. states to diagnose rare genetic diseases.

ӳ��ý Clinical Labs has directly partnered with tens of thousands of cancer patients to analyze their DNA and accelerate research.

During the COVID-19 pandemic, ӳ��ý launched a large-scale diagnostic testing lab that processed over 37 million tests and saved state and federal programs nearly $2 billion.

The ӳ��ý'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 ӳ��ý with NIH funding, has contributed to over 13 million genetic disease diagnoses since its launch in 2014.

Datasets generated at the ӳ��ý 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 ӳ��ý 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 ӳ��ý research is shedding new light on the biological roots of many diseases, including Alzheimer’s, Parkinson’s, and Huntington’s disease.

Scientists with ӳ��ý’s Stanley Center for Psychiatric Research have found key genetic factors for schizophrenia and bipolar disorder.

ӳ��ý 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.

ӳ��ý Clinical Labs has sequenced nearly 900,000 whole human genomes, producing, on average, one human genome sequence every three minutes.

ӳ��ý Clinical Labs developed a new method for genome sequencing that costs 75 percent less than existing methods.

ӳ��ý Clinical Labs is the largest genome sequencing center of its kind in the world.

ӳ��ý Clinical Labs has partnered with MyOme and Southern Research Institute in Birmingham, Alabama to provide free genetic tests to people in Alabama.

ӳ��ý 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.

ӳ��ý 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, ӳ��ý 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.

ӳ��ý 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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