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CRISPR - Cas9
In 2013, ӳ����ý scientist Feng Zhang (pictured left) and his lab how CRISPR-Cas9, the foundational gene-editing technology, can make targeted cuts in DNA in human cells. This technology is the basis for Casgevy, a treatment for sickle cell disease and the first ever FDA-approved CRISPR gene editing medicine (approved in 2023). 

Base editing
by ӳ����ý researcher David Liu (pictured right) and his team, this CRISPR-based technology makes targeted, single-letter (or single-base) changes in DNA. In 2025, ӳ����ý scientists contributed to a tour de force effort that designed, produced, and tested a custom base-editing treatment to treat baby KJ Muldoon’s rare genetic disease in record time, resulting in a vastly improved prognosis for him. Learn more in this Q&A article and featuring Liu. 

Prime editing
A more versatile form of gene editing, prime editing, which was also invented by David Liu’s team, makes a greater variety of edits such as inserting, deleting, or replacing larger sections of DNA. Developed in 2019, prime editing has already been successfully for a rare genetic immune deficiency.

Base and prime editing can correct the majority of known disease-causing genetic mutations, and are being tested in at least 23 clinical trials to treat or cure leukemias, rare genetic diseases, and high cholesterol. Several of those trials have shown that patients have benefited from the gene-editing treatments. Watch this of David Liu describing the impact of gene editing on human health.

A key discovery from ӳ����ý researchers about the genetic roots of lung cancer has resulted in a new cancer drug candidate developed by our long-time partner Bayer. That compound is and is under . If approved, the drug candidate could be a new treatment for a type of lung cancer that has been historically difficult to treat. (Lung cancer cells pictured in red.)

Technologies and discoveries pioneered at the ӳ����ý are powering nearly 20 clinical trials that are testing new treatments for cancer, heart disease, and more. These include:

• A candidate that aims at a part of the immune system not previously targeted by other immunotherapies
• A potential , the most common type of heart arrhythmia and a risk factor for heart failure and stroke

A liquid biopsy technology developed in 2022 at ӳ����ý called MAESTRO can detect trace amounts of cancer DNA in blood. In 2023, Exact Sciences, a leading provider of cancer screening and diagnostic tests, MAESTRO from the ӳ����ý. 

In 2026, Exact Sciences that will be powered by MAESTRO. The Oncodetect test can detect and quantify the presence of a small amount of cancer DNA that may remain in a patient’s body after treatment.

Early data from the next-generation version of the Oncodetect test, which leverages MAESTRO-powered technology, show that the test will track up 5,000¹ patient-specific cancer variants and . This may help doctors detect cancer recurrence earlier so that they can potentially adjust and improve treatment for their patients. 

1. Data source on file. Exact Sciences. Madison, WI. May 2025 

, the largest genome sequencing center (pictured) in the U.S., developed a technology called , which sequences the entire human genome at a quarter to a third of the cost of existing methods. This industrial-scale approach is making genetic testing and cancer screening available to more people across the U.S. through several partnerships, including: 

Partnering with MyOme and Southern Research Institute in Birmingham, Alabama
The program provides patients across Alabama with access to free genetic tests and clinical insights about their health risks and what medications will work best for them. , the program is led by Southern Research Institute in Birmingham in partnership with MyOme, a clinical genetics company.

Genetic testing for the U.S. Department of Veterans Affairs (VA)
The VA Office of Research and Development is running a for veterans across the U.S., testing whether analysis of DNA from saliva can provide a more accurate measure of prostate cancer risk than traditional screening methods. 

Providing genetic diagnosis for cardiac patients 
ӳ����ý Clinical Labs and Mass General Brigham Personalized Medicine’s Laboratory for Molecular Medicine have partnered with Everygene, a precision health company, to provide no-cost . Cardiomyopathy is a disease of the heart muscle that can lead to heart failure and sudden cardiac death, affecting over 1 million people in the U.S.

Rare genetic diseases often begin in childhood, can be debilitating and sometimes fatal, and most lack targeted treatments or cures. Half of patients with a rare disease remain without a diagnosis. ӳ����ý researchers have worked directly with more than 1,300 families from all 50 states who are affected by rare genetic diseases. 

Researchers with the ӳ����ý’s analyze the DNA of affected individuals and their healthy family members, and provide diagnoses that identify the genetic misspelling causing the disease. A diagnosis helps families find support, build community with other affected families, pursue possible treatments, and advocate for more research. Read this story about the ӳ����ýbent family (pictured) from Texas that recently partnered with ӳ����ý and other scientists to discover the root cause of their daughter’s rare disease.

In March 2020, the ӳ����ý built and launched one of the U.S.’s largest independent COVID-19 diagnostic testing labs (pictured). We helped workers and students go back to the office and classroom and keep businesses and schools open, by processing 37 million COVID diagnostic tests from March 2020 to June 2023 at a peak pace of 145,000 tests per day. At our peak, approximately 1 in every 20 tests nationwide was being processed at the ӳ����ý, and at much lower cost and with a faster turnaround time than anywhere else. 

By using our COVID-testing capabilities instead of commercial testing labs, state and federal programs saved more than $1.9 billion.

Rural clinics across Nigeria and Sierra Leone are using CRISPR-based pathogen detection methods (pictured) and AI-based analytic tools developed at the ӳ����ý to quickly identify viruses in patients’ blood samples. The reduced cost and complexity of these technologies is empowering frontline public health workers to detect and stop outbreaks at the source faster and more effectively than before. 

Read this profile of the Sentinel Program and visit the Sentinel to learn more.

Through large collaborative projects, ӳ����ý researchers have uncovered genetic factors for almost all human diseases, including some of the most significant discoveries of the genetic basis of schizophrenia and bipolar disorder. These findings have led to solid hypotheses about what goes awry in the brain to cause these mental health disorders. 

Emerging research from ӳ����ý is shedding new light on the biological roots of neurodegeneration including ��������𾱳����’s, �ʲ����쾱�Բ��Dz�’s, and Huntington’s disease, and is revealing possible new subtypes of diabetes and obesity. 

As sophisticated biomedical data-analysis tools, AI models are helping to make lab work more efficient by generating new hypotheses and predicting which experiments are more likely to succeed. This can vastly reduce the time and resources required for new discoveries.

AI has become ubiquitous in biomedical research at ӳ����ý and beyond, allowing scientists to discover new drugs, pinpoint genes, molecules and cells that are causing disease, and more. Learn more here.

Research tools and technologies created at the ӳ����ý have become staples in thousands of labs across the U.S. and around the world. They are helping the scientific community more quickly discover new insights into what causes disease and how to better treat them. Here are some examples: 

• A flagship initiative based at the ӳ����ý, the , has created a resource commonly used by cancer researchers and drug developers to find and validate therapeutic targets for new treatments for adult and pediatric cancers. Using DepMap data, scientists across the globe have uncovered for lung, brain, pancreatic, colorectal, and other cancers that are being tested in clinical trials.
• Google DeepMind used large datasets generated largely at the ӳ����ý during the 2010s to train , a cutting-edge AI model. The model, launched in 2025, predicts how genetic variants affect the processes that control when and where genes are turned on and off in the cell. Learn more about how ӳ����ý datasets are powering the latest AI models.
• ӳ����ý built a large human genetic variant reference database called (pronounced as “nomad”) that is used by virtually all clinical genetics labs in the U.S. and worldwide to help diagnose patients with genetic disorders. Since the first version of gnomAD (then called ExAC) launched in 2014, it has contributed to more than 13 million diagnoses.
• Since 2016, ӳ����ý has been collaborating with scientists from across the U.S., including Texas, Georgia, Pennsylvania, and Iowa in an NIH-funded project to sequence tens of thousands of DNA samples from children with cancer and birth defects. By , the scientists have published describing common biological pathways underlying birth defects and childhood cancer.