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Ramnik Xavier

Susanna M. Hamilton, ӳ��ý Communications

News 02.01.2018

A circuitous route to inflammatory bowel disease

A gene's role in a disease is not always a direct one, a point highlighted when connecting the dots between one gene and IBD.

Medical and Population Genetics Program

Infectious Disease and Microbiome Program

News 11.08.2017

Researchers produce the first draft cell atlas of the small intestine

By surveying gene expression in over 53,000 cells from the small intestine, researchers have created a rich reference for understanding the biology of inflammatory bowel disease and food allergies, among other conditions.

Cell Circuits Program

Klarman Cell Observatory

Infectious Disease and Microbiome Program

Gene-Expression Profiling

Single Cell

Aviv Regev

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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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Ramnik Xavier

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