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Online Database Aims to Collect, Organize Research on Cancer Mutations

Goal is to help clinicians treat patients based on tumor genetics

In Highly Lethal Type of Leukemia, Cancer Gene Predicts Treatment Response

New research led by Washington University School of Medicine in St. Louis shows that patients with acute myeloid leukemia (AML) whose cancer cells carry TP53 mutations — a feature that correlates with an extremely poor prognosis — may live longer if they are treated with decitabine, a less intensive chemotherapy drug.

Study Sheds Light on Parasite That Causes River Blindness

A new genomic survey of the parasite may provide clues to how the worm has become resistant to drug therapies.

$10 Million Gift Creates Bursky Center for Human Immunology and Immunotherapy

Research harnesses immune system against cancer, other diseases

New Study Shows Breast Tumors Evolve in Response to Hormone Therapy

A new study demonstrates that the genetics of these tumors can change dramatically in response to estrogen deprivation therapy, suggesting tumors should be analyzed more than once during treatment to assess whether doctors need to change therapeutic strategies.

Study Finds Marker of Aggressive Prostate Cancer

Studying prostate tumors, researchers have identified a marker of aggressive prostate cancer. The findings could guide the design of future clinical tests to help doctors determine whether a patient has slow-growing or aggressive cancer.

First Large-Scale Proteogenomic Study of Breast Cancer Provides Insight Into Potential Therapeutic Targets

Promising Approach Integrates Proteomic and Genomic Data to Discern Functional Effects of Mutations and Uncover Cancer’s Driver Genes

Genomics Aids Diagnosis of Unusual Chronic Meningitis Case

The culprit: A bacterium more commonly linked to acne

Sequencing Reveals Genetic Alterations for Uncommon Brain Tumors in Children

St. Jude Children’s Research Hospital-Washington University Pediatric Cancer Genome Project identifies a select repertoire of genetic alterations for low-grade neuroepithelial tumors that may aid diagnosis and future selection of targeted therapies

Mardis Visits White House to Discuss Cancer Research

Co-director of The McDonnell Genome Institute joins other top researchers to discuss challenge to cure cancer

MGI Awarded $60M for New Centers for Complex Disease Genomics Network

4-Year Grant from NHGRI for Studies of Cardiovascular and Neuropsychiatric Diseases

Giant Cells Reveal Their Secrets

The genome of a giant amoeba provides clues to the early evolution of contemporary genes.

Study Uncovers Hard-to-Detect Cancer Mutations

Findings could help identify patients who would benefit from existing drugs

Kissing Bug Genome Provides Insight into Blood-feeding Life Style

Data should improve our understanding of the transmission of a life-threatening parasite and may lead to the development of innovative insect control methods.

Mardis Named Editor-in-Chief of Case Studies Journal

Elaine R. Mardis has been named editor-in-chief of the journal Molecular Case Studies, published by Cold Spring Harbor Press.

Ley Receives $6.4 million NCI Award for Leukemia Research

Timothy J. Ley, MD, a leukemia researcher and hematologist at Washington University School of Medicine in St. Louis, has received a seven-year, $6.4 million Outstanding Investigator Award from the National Cancer Institute (NCI) of the National Institutes of Health (NIH).

MGI Holds Bioinformatics Workshop for Helminth Genomics

For two days in September, Dr. Mitreva and members of her laboratory at MGI gave 20 attendees individual, hands-on instruction in bioinformatics for helminth genomics.

New Test Detects All Viruses that Infect People, Animals

A new test detects virtually any virus that infects people and animals, according to research at Washington University School of Medicine and the McDonnell Genome Institute, where the technology was developed.

Relapse, Poor Survival in Acute Leukemia Linked to Genetic Mutations that Persist in Remission

For patients with an often-deadly form of leukemia, new research suggests that lingering cancer-related mutations – detected after initial treatment with chemotherapy – are associated with an increased risk of relapse and poor survival.

Diagnostic Test Developed for Enterovirus D68

Respiratory virus caused severe illness, deaths in children

Ley Chosen for National Cancer Advisory Board

President Obama appoints Dr. Timothy Ley to the board, which advises and assists the Director of the National Cancer Institute.

$25 million Gift from James and Elizabeth McDonnell Endows The Genome Institute

Longtime philanthropists and civic leaders Elizabeth and James McDonnell have pledged $25 million to endow The Genome Institute. With the gift, the institute will be named The Elizabeth H. and James S. McDonnell III Genome Institute.

Genetic Errors Linked to Aging Underlie Leukemia That Develops After Cancer Treatment

Is cancer treatment the direct cause of therapy-related leukemia? New research from Washington University and The Genome Institute suggests it may be more complicated.

The Cat’s Meow: Genome Reveals Clues to Domestication?

Researchers at Washington University School of Medicine in St. Louis led an international team that sequenced and analyzed the cat genome to better understand the animal’s domestication.

Blind Cavefish Genome Reveals Candidate Genes for Eye Loss

TGI researchers, alongside national and European collaborators, present the first de novo genome assembly for the blind cavefish. This genome may offer insights into analogous human diseases such as congenital abnormalities, retinal dysfunction, and sleep disturbances.

MGI Awarded Grant to Improve Human Reference Genome Resource

The grant, awarded to the McDonnell Genome Institute with collaborators at the University of Washington and Benaroya Research Institute at Virginia Mason, totals more than $8.5 million dollars over 3 years. It will support the McDonnell Genome Institute’s contributions to the Genome Reference Consortium to enhance the quality and breadth of the human genome reference assembly.

Altered Long Intergenic Non-Coding RNAs in Lung Cancer

Researchers at The Genome Institute have used transcriptome sequencing to identify lung-cancer specific long intergenic non-coding RNAs. The most differentially expressed lncRNA, LCAL1, plays a role in cellular proliferation.

Marmoset Genome Sheds Light on Primate Biology and Evolution

A team of international researchers, led by The Genome Institute at Washington University in St. Louis and Baylor College of Medicine, have reported the whole-genome sequence of the common marmoset (Callithrix jacchus) in Nature Genetics.

McDonnell Genome Institute Researchers Remain on "Hottest Researchers" List

Four MGI researchers (Rick Wilson, Elaine Mardis, Li Ding, and Robert Fulton) were again named to the "Hottest Researchers" list. Additionally, Drs. Wilson and Mardis were named to the 2014 list of "World's Most Influential Scientific Minds."

New Method Improves Transcriptome Analysis from Low-yield and Archived Samples

Scientists at The Genome Institute develop method using RNA sequencing with exome capture selection step (cDNA-Capture) to preserve the dynamic range of expression from limited and formalin-fixed samples, permitting differential comparisons and validation of expressed mutations.

Genome Institute researchers make scientific double play

Wesley Warren, PhD and Richard K. Wilson, PhD contribute to two separate cover stories in Science and Nature in the same week.

Obi and Malachi Griffith Make 2013 Smart List

The brothers were nominated for WIRED Magazine's second annual Smart List by TGI Co-Director, Elaine Mardis, Ph.D.

NIH support fosters diversity among PhD trainees

A new program, funded by the National Institutes of Health, promotes diversity in the university’s PhD training program in the biomedical sciences.

Genetic errors identified in 12 major cancer types

Examining 12 major types of cancer, scientists at The Genome Institute have identified 127 repeatedly mutated genes that appear to drive the development and progression of a range of tumors in the body. The discovery sets the stage for devising new diagnostic tools and more personalized cancer treatments.

Database of disease genes shows potential drug therapies

Researchers at The Genome Institute have created a massive online database that matches thousands of genes linked to cancer and other diseases with drugs that target those genes. Some of the drugs are approved by the U.S. Food and Drug Administration, while others are in clinical trials or just entering the drug development pipeline.

Gates grant helps fund new ‘river blindness’ test

Scientists at The Genome Institute and Washington University School of Medicine have received nearly $2 million from the Bill & Melinda Gates Foundation to develop a new diagnostic test for “river blindness,” a neglected tropical disease that is caused by a parasitic worm, Onchocerca volvulus, and spread by the bites of black flies that breed in fast-flowing rivers.

New models of drug-resistant breast cancer hint at better treatments

Researchers at The Genome Institute and Washington University School of Medicine have shown that human breast tumors transplanted into mice are excellent models of metastatic cancer and could be valuable tools in the search for better treatments.

Rare gene variant linked to macular degeneration

An international team of researchers, led by scientists at The Genome Institute and the University of Michigan School of Public Health, has identified a gene mutation linked to age-related macular degeneration (AMD), the leading cause of blindness in Americans over age 50.

DNA study reveals clues to human, ape evolution

A massive effort to catalog the genetic variation in humans, chimpanzees, gorillas and orangutans has helped researchers piece together a model of great ape history spanning 15 million years.

Four Genome Institute Researchers Among Year's "Hottest"

Thomson Reuters' "Hottest Scientific Researchers of the Year" includes four members of The Genome Institute: Richard K. Wilson, Elaine Mardis, Li Ding and Robert Fulton.

Scientists assemble genetic playbook for acute leukemia

A team of researchers led by The Genome Institute and Washington University School of Medicine has identified virtually all of the major mutations that drive acute myeloid leukemia (AML), a fast-growing blood cancer in adults that often is difficult to treat.

Genomics to reshape endometrial cancer treatment

The most in-depth look yet at endometrial cancer shows that adding genomics-based testing to the standard diagnostic workup could change the recommended course of treatment for some women.

Global Health Research: Eliminating Lymphatic Filariasis

Researchers at The Genome Institute and Washington University School of Medicine are working together on projects to help eliminate the tropical disease lymphatic filariasis and control other diseases caused by parasitic worms.

Fish prone to melanoma get DNA decoded

Scientists at The Genome Institute and elsewhere have decoded the genome of the platyfish, a cousin of the guppy and a popular choice for home aquariums.

Mutations identified in childhood brain tumor

The St. Jude Children’s Research Hospital – Washington University Pediatric Cancer Genome Project has identified mutations responsible for more than half of a subtype of childhood brain tumor that takes a high toll on patients. Researchers also found evidence the tumors are susceptible to drugs already in development.

Decoding the turtle genome

Decoding the genome of the western painted turtle reveals new clues to turtles’ longevity and the ability to survive without oxygen during long winters.

Study may explain why some people get pimples

The bacteria that cause acne live on everyone’s skin, yet one in five people is lucky enough to develop only an occasional pimple over a lifetime. What’s the secret?

Ancient sea lamprey gets DNA decoded

What can we learn about human evolution from an eel-like creature with a sucker-shaped mouth? Apparently, quite a lot.

(Photo Credit: Jeramiah Smith)

TGI Tier Annotation

For many of our cancer papers, we subdivide the human genomes into tiers and categorize somatic mutations by which tier they fall in. These tiers are described in the supplemental material for Mardis et al. 2009. We have continued to update these tiers as genomic annotations change and the most up-to-date versions are posted below.

A new genetic fingerprint lives in your belly

Our bodies contain far more microbial genes than human genes. And a new study suggests that just as human DNA varies from person to person, so too does the massive collection of microbial DNA in the intestine.

Abnormal gene identified for rare childhood leukemia

St. Jude Children's Research Hospital - Washington University Pediatric Cancer Genome Project discovery provides insight into a tough-to-cure form of acute myeloid leukemia that lays the groundwork for clinical care advances.

Global genome effort seeks genetic roots of disease

By decoding the genomes of more than 1,000 people whose homelands stretch from Africa and Asia to Europe and the Americas, scientists have compiled the largest and most detailed catalog yet of human genetic variation.

Some deadly breast cancers share genetic features with ovarian tumors

The most comprehensive analysis yet of breast cancer shows that one of the most deadly subtypes is genetically more similar to ovarian tumors than to other breast cancers.

Smokers have 10 times more genetic damage than never-smokers

Lung cancer patients with a history of smoking have 10 times more genetic mutations in their tumors than those with the disease who have never smoked, according to a new study from The Genome Institute and Washington University School of Medicine.

Doctor survives cancer he studies

Using advanced sequencing and analysis technology, researchers at The Genome Institute and their colleagues have helped their fellow doctor, Lukas Wartman, survive the cancer he studies.

Hundreds of random mutations in leukemia related to aging

Hundreds of mutations exist in leukemia cells at the time of diagnosis, but nearly all occur randomly as a part of normal aging and are not related to cancer, new research from The Genome Institute and Washington University School of Medicine shows.

Potential Drug Targets Identified in Common Childhood Brain Cancer

Researchers studying the genetic roots of the most common malignant childhood brain tumor have discovered missteps in subtypes of the cancer that involve genes already targeted for drug development.

De Novo Collaborations

TGI sequences genomes from hundreds of organisms that are important research tools in fields such as infectious disease, agriculture, industry and environmental studies.

Decoding DNA finds breast tumor signatures that predict response

Decoding the DNA of patients with advanced breast cancer has allowed scientists to identify distinct cancer "signatures" that could help predict which women are most likely to benefit from estrogen-lowering therapy, while sparing others from unnecessary treatment

Defining the Body's Microbial Ecosystem - The Human Microbiome

A consortium of some 200 scientists at The Genome Institute, Washington University School of Medicine in St. Louis and elsewhere report findings from the most comprehensive census of the microbial makeup of healthy humans.

TGI and Siteman Receive $4 Million for Breast Cancer Research

Scientists at The Genome Institute and Siteman Cancer Center have received a $4 million grant from Susan G. Komen for the Cure for developing innovative treatments in the fight against breast cancer.

World's Largest Release of Human Cancer Genome Data

To speed progress against cancer and other diseases, the St. Jude Children's Research Hospital-Washington University Pediatric Cancer Genome Project has announced the largest release to date of comprehensive human cancer genome data for free access by the global scientific community.

Directors Receive Outstanding St. Louis Scientists Award

The St. Louis Academy of Science honors directors Richard Wilson, Elaine Mardis and Timothy Ley with the George Engelmann Interdisciplinary Science Award recognizing outstanding achievement in science, engineering or technology that results from collaboration among two or more individuals across disciplinary and/or institutional boundaries.

DNA Sequencing Lays Foundation for Personalized Cancer Treatment

Scientists at The Genome Institute are using powerful DNA sequencing technology not only to identify mutations at the root of a patient's tumor - considered key to personalizing cancer treatment - but to map the genetic evolution of disease and monitor response to treatment.

Scientists map genetic evolution of leukemia

By mapping the evolution of cancer cells in patients with myelodysplastic syndromes who later died of leukemia, Washington University scientists have found clues to suggest that targeted cancer drugs should be aimed at mutations that develop early in the disease.

Gene linked to fatal neuroblastoma in adolescents, young adults

Researchers at The Genome Institute and St. Jude Children's Research Hospital have identified the first gene mutation associated with a chronic and often fatal form of neuroblastoma that typically strikes adolescents and young adults.

Sequencing Helps Identify Cancer Cells for Immune System Attack

Scientists at The Genome Institute and Washington University School of Medicine find that DNA sequences from tumors grown in mice can be used to direct the immune system to attack cancer.

Discovery of Mutations Tied to Aggressive Childhood Brain Tumors

Researchers studying a rare, lethal childhood tumor of the brainstem discovered that nearly 80 percent of the tumors have mutations in genes not previously tied to cancer. Early evidence suggests the alterations play a unique role in other aggressive pediatric brain tumors as well. The findings from the St. Jude Children’s Research Hospital – Washington University Pediatric Cancer Genome Project (PCGP) offer important insight into a poorly understood tumor that kills more than 90 percent of patients within two years. The tumor, diffuse intrinsic pontine glioma (DIPG), is found almost exclusively in children and accounts for 10 to 15 percent of pediatric tumors of the brain and central nervous system.

Advances in Genome Biology and Technology Meeting 2012

The Advances in Genome Biology and Technology (AGBT) meeting is an annual scientific forum for acquiring information about the latest advances in DNA sequencing technologies and applications.

Progress in Fight Against Aggressive Childhood Leukemia

A new study provides the first details of the genetic alterations fueling a subtype of acute lymphoblastic leukemia (ALL) that has a poor prognosis. The findings from the St. Jude Children’s Research Hospital – Washington University Pediatric Cancer Genome Project (PCGP) highlight a possible new strategy for treating patients with this more aggressive cancer.

New Drug Target for Childhood Eye Tumor

New findings from the St. Jude Children’s Research Hospital – Washington University Pediatric Cancer Genome Project (PCGP) have helped identify the mechanism that makes the childhood eye tumor retinoblastoma so aggressive. The discovery explains why the tumor develops so rapidly while other cancers can take years or even decades to form.

Chemotherapy May Influence Leukemia Relapse

Research from The Genome Institute and colleagues suggests chemotherapy may contribute to relapse in some patients with acute myeloid leukemia.

Sequencing the House Cat

Domesticated cats are the most popular pets globally, with approximately 34% of households owning over 88 million cats in the US alone. The cat is an important model organism for biomedical research and it is used in understanding mammalian development, cancer and infectious disease research.

Key genetic error found in family of blood cancers

Researchers at Washington University School of Medicine used whole-genome sequencing to identify a critical mutation in some patients with myelodysplastic syndromes that appears to increase the likelihood they will develop acute myeloid leukemia.

The Genome Institute Receives $114 million Grant

Washington University's Genome Institute has received a $114 million four-year grant from the National Human Genome Research Institute (NHGRI) to continue its groundbreaking genomic research.

Sequencing the Atlantic Killifish

The Genome Institute is collaborating on a project to sequence the Atlantic Killifish and identify the genes it has evolved to help it survive in extreme conditions.

American Bald Eagle Sequenced

Researchers at The Genome Institute in collaboration with Dr. Erich Jarvis, Duke University, have sequenced the genome of the American bald eagle – the symbol of the United States of America.

Detailed picture of ovarian cancer emerges

Scientists have completed the largest analysis to date of the genetic mutations underlying ovarian cancer. The research was conducted by scientists at The Genome Institute and elsewhere as part of The Cancer Genome Atlas (TCGA) project.

Komen Research Advocacy Genomics Training Event

On April 16 a group of women from the Komen St. Louis Research Advocacy Committee joined together at The Genome Institute to learn about genomics and breast cancer. The event gave the committee members an opportunity to learn about the latest in genomic research and understand more about how this emerging field is affecting clinical breast cancer research.

Decoding cancer patients’ genomes is a powerful diagnostic tool

Two new studies highlight the power of sequencing cancer patients' genomes as a diagnostic tool, helping doctors decide the best course of treatment and researchers identify new cancer susceptibility mutations that can be passed from parent to child.

Genetics Helps Solve How Flowering Plants Evolved

New research indicates that two major genetic upheavals produced thousands of new genes that may have helped drive the evolutionary explosion that led to the rich diversity of present-day flowering plants.

DNA of 50 breast cancer patients decoded

In the single largest cancer genomics investigation reported to date, The Genome Institute researchers and colleagues have sequenced the whole genomes of tumors from 50 breast cancer patients and compared them to the matched DNA of the same patients' healthy cells.

International Human Microbiome Congress 2011

The International Human Microbiome Congress (IHMC) is a yearly meeting where researchers from around the world gather to discuss the human microbiome, the complement of microbes that are present in the body, and its role in human health and disease.

Trichinosis parasite gets DNA decoded

Scientists at The Genome Institute and their collaborators have decoded the DNA of the parasitic worm that causes trichinosis, a disease linked to eating raw or undercooked pork or carnivorous wild game animals, such as bear and walrus.

DNA Sequencing Technology: A Perspective from Dr. Elaine Mardis

Dr. Elaine Mardis summarizes her views on sequencing technology and its impact on biomedical research over the last decade in a perspective published in the journal Nature.

Sequencing the Endangered Orangutan

An international team of scientists, led by The Genome Institute at Washington University, has decoded, or sequenced, the DNA of a Sumatran orangutan. With this genome as a reference, the scientists then sequenced the genomes of five additional Sumatran and five Bornean orangutans.

Stealthy Pathogen’s Genome Provides Plant Disease Clues

An international team of scientists has sequenced the genome of a plant disease-causing organism, revealing that it acts like a "stealth bomber of plant pathogens."

Q&A with the Genome Institute’s Sandra Clifton

After over a decade at The Genome Institute, Dr. Sandra Clifton is retiring. But before she left, she agreed to answer a few questions about her career in genomics.

Malaria mosquitoes’ DNA shows evolving species

Two strains of Anopheles gambiae, a type of mosquito responsible for the majority of malaria transmission in Africa, have evolved such substantial genetic differences that they are becoming different species.

Gene mutation predicts poor outcomes in leukemia

Decoding the DNA of a woman who died of acute myeloid leukemia (AML) has led researchers at The Genome Institute and Washington University School of Medicine in St. Louis to a gene that they found to be commonly altered in many patients who died quickly of the disease.

1,000 Genomes Project Pilot Phase Complete

Small genetic differences between individuals help explain why some people have a higher risk than others for developing illnesses such as diabetes or cancer. The 1000 Genomes Project, an international public-private consortium that includes The Genome Institute and a number of other research centers, has published the most comprehensive map of these genetic differences, called variations, estimated to contain approximately 95 percent of the genetic variation of any person on Earth.

Breast Cancer Research at The Genome Institute: Pink Power

The Genome Institute is going pink for National Breast Cancer Awareness Month, after being presented with pink panels for one of its Illumina sequencers to celebrate the completion of the Washington University Cancer Genome Initiative.

Photo: Rose Brockhouse (left) and Dr. Elaine Mardis (right) in front of the Genome Institute’s pink Illumina GAIIx sequencer.

Human Cancer Genome Sequencing Progress

The Genome Institute is involved in a number of cancer genome sequencing projects. Here is an overview of these projects.

Fulbright Scholar and Platypus Hunter Camilla Whittington Studies the Bizarre Mammal’s Venom

The platypus is one of very few mammals that produce venom. Camilla Whittington is a visiting Fulbright Scholar who is studying the genetics of this venom with the hope of finding potentially useful drug compounds.

Studying the Zebra Finch Genome

Nearly all animals make sounds instinctively, but baby songbirds learn to sing in virtually the same way human infants learn to speak: by imitating a parent.

A Platypus Genetic Story

With a duckbilled face and a round, furry body, there is arguably no mammalian species with as strange a mixture of characteristics as the platypus. And it has the genes to match its odd appearance.

Robert Fulton: A Career in Genomics

A self-described "jack of all trades geneticist," Robert Fulton, Group Leader of Sequencing Improvement for The Genome Institute, began his career by happenstance.

Human Microbiome Project Leader Q & A

According to Dr. George Weinstock, Associate Director of The Genome Institute and leader of work on the Human Microbiome project here, “you are crawling with microorganisms.” Now before you go and try to scrub them off, you should know these minute creatures are here to stay.