Broad’s Impact

CRISPR - Cas9
In 2013, Broad scientist Feng Zhang (pictured left) and his lab showed 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
Developed in 2016 by Broad researcher David Liu (pictured right) and his team, this CRISPR-based technology makes targeted, single-letter (or single-base) changes in DNA. In 2025, Broad 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 video 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 tested in a clinical trial 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 25 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 video of David Liu describing the impact of gene editing on human health.

In 2026, Liu and collaborators from The Jackson Laboratory and Boston Children’s Hospital launched the Center for Therapeutic Genetics to accelerate the development and delivery of gene-editing treatments for patients with rare disease.

A key discovery from Broad researchers about the genetic roots of lung cancer has resulted in an FDA-approved cancer drug developed by our long-time partner Bayer in close collaboration with Broad scientists. It is a treatment for a type of lung cancer that has been historically difficult to treat. Learn more about the drug, called HYRNUO®, and its 2025 approval here. (Lung cancer cells pictured in red.)

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

• A cancer drug candidate that aims at a part of the immune system not previously targeted by other immunotherapies
• A potential medicine for atrial fibrillation, the most common type of heart arrhythmia and a risk factor for heart failure and stroke
• A drug candidate for prion disease, an inherited neurodegenerative disorder
• A gene therapy candidate for a leading monogenic cause of autism, which is clinically diagnosed as Phelan-McDermid syndrome and is caused by pathogenic variants in the SHANK3 gene or from chromosome 22q13.3 deletions encompassing SHANK3.

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

In 2026, Exact Sciences will launch a next-generation version of their Oncodetect^TM test 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 detect circulating tumor DNA levels below 1 part per million. 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 

Broad Clinical Labs, the largest genome sequencing center (pictured) in the U.S., developed a technology called Clinical Blended Genome-Exome (cBGE) sequencing, 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 Catalyst 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. Launched in 2024, the program is led by Southern Research Institute in Birmingham in partnership with MyOme, a clinical genetics company. Learn more about the program.

Genetic testing for the U.S. Department of Veterans Affairs (VA)
The VA Office of Research and Development is running a prostate cancer screening study 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. Learn more about the trial and Broad's role in it.

Providing genetic diagnosis for cardiac patients 
Broad 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 genetic testing to people nationwide with cardiomyopathy. 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. Broad researchers have worked directly with more than 1,300 families from all 50 states who are affected by rare genetic diseases. 

Researchers with the Broad’s Rare Genomes Project 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 Broadbent family (pictured) from Texas that recently partnered with Broad and other scientists to discover the root cause of their daughter’s rare disease.

In March 2020, the Broad 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 Broad, 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.

Through a pandemic-prevention program called Sentinel, rural clinics across Nigeria and Sierra Leone are using CRISPR-based pathogen detection methods (pictured) and AI-based analytic tools developed at the Broad 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. 

In November 2025, Sentinel received a $100 million, five-year grant from The John D. and Catherine T. MacArthur Foundation to strengthen its systems and expand them to a national level in Nigeria and Sierra Leone, and extend its reach to Senegal, Rwanda, and the Democratic Republic of Congo. This will enhance regional resilience, preparedness, and response, leading to a stronger network for early detection and prevention of pandemics.

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

Through large collaborative projects, Broad 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 Broad is shedding new light on the biological roots of neurodegeneration including Alzheimer’s, Parkinson’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 Broad 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 Broad 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 Broad, the Cancer Dependency Map (DepMap), 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 many promising drug targets for lung, brain, pancreatic, colorectal, and other cancers that are being tested in clinical trials.
• Google DeepMind used large datasets generated largely at the Broad during the 2010s to train AlphaGenome, 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 Broad datasets are powering the latest AI models.
• Broad built a large human genetic variant reference database called gnomAD (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, Broad 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 sharing and analyzing Broad-generated genetic datasets, the scientists have published more than 200 research papers describing common biological pathways underlying birth defects and childhood cancer.