Fostering Groundbreaking Medical Research: Investments in the National Institutes of Health
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Last September, while visiting the National Institutes of Health (NIH) and announcing the major milestone of awarding 50 percent of NIH Recovery Act funds in less than eight months after the Act’s passage, President Obama noted:
" . . . Here at the National Institutes of Health, and at universities and research institutions across this country, you are demonstrating our capacity not just as a nation but as human beings to harness our creativity and our ingenuity to save lives, to spare suffering – to build a better world for ourselves, our children, and our grandchildren. That is our great promise. And it is one that we've once again begun to fulfill."
The Recovery Act has provided funds to NIH to support groundbreaking research that will help unravel the clues to treating or preventing some of life’s most daunting and debilitating diseases, develop powerful new medicines, and even define strategies that will prevent disease from occurring in the first place. NIH Recovery Act funds are divided as follows:
With the over $8 billion in funds for scientific research, NIH has been able to accelerate ongoing research and fund promising research projects that would not have been able to receive funding otherwise. These funds support key activities, including Challenge Grants aimed at 15 high priority fields of research and Grand Opportunity grants to fund large-scale projects that will have a high impact in two years.
The transformative research happening in the health sector as a result of Recovery Act investments crosses multiple disciplines, dramatically impacting both the quality and scale of today’s projects while laying critical groundwork for the breakthroughs of tomorrow. Examples of these changes can be found in the research in human genome sequencing, cardiovascular disease, cancer, and autism.
In Pursuit of the $1,000 Genome: Creating DNA Sequencing Solutions
As an extraordinary example of the promise afforded by this opportunity, a decade after the publication of the first draft human genome (a culmination of years of effort by thousands of researchers), Recovery Act dollars will support the sequencing of over 2,000 complete genomes, a more than 50-fold increase over the 34 genomes that have been sequenced to date by non-Recovery Act NIH funding. 56 This accomplishment will be spread across various studies, projects, and disease groups, and will lend a new level of insight into disease that was previously unattainable.
Source: NIH staff estimates.
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One potential area of impact is the study of schizophrenia. This complex disease is likely caused by a combination of genetic and environmental factors, with no single gene causing schizophrenia. Variants of many genes involved in shaping brain function may contribute to schizophrenia risk, and the effect of any one gene may be small. This makes it very difficult to identify disease-promoting genes using the standard methodology of looking at one –or only a few – genes at a time. Therefore, $10 million in Recovery Act funding will enable scientists to sequence entire genomes of individuals with schizophrenia and search for rare but important genetic variants with the goal of identifying the most likely genetic targets for treatment.
The promise of being able to compare entire human genomes is boundless. Today, however, the financial cost of doing so is very high and often prohibitive. Therefore, further investments are directed toward the goal of slashing the cost of DNA sequencing to $1,000 per genome: that’s 50 times cheaper than currently possible. 60 Such a goal appears realistic; for example, Dr. Stephen Turner, the Chief Technology Officer of Pacific Biosciences, Inc. in Menlo, California, and his team have invented a technique called Single-Molecule Real-Time (SMRT) DNA sequencing. 61 This DNA-reading method is unique in that it actually mimics what happens in the body as cells divide and copy their DNA with a cellular protein machine called DNA polymerase. SMRT sequencing uses a lab-made version of this DNA-making engine and adds a few adjustments to make the process observable by camera.
Source: The NIH Fiscal Year 2011 Congressional Justification Overview cites the current cost of sequencing a genome at $50,000.
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Research conducted by Dr. Turner and other awardees using Recovery Act funding could lead to a $1,000 genome. In addition, Dr. Turner predicts that if SMRT DNA sequencing technology works as expected and becomes commercially available to the broader scientific community, it could create hundreds of new jobs as well as a revolutionary tool for researchers to understand the role of chemical switches in gene expression to health and disease.
The Pacific Biosciences project is one of seven projects funded by the Recovery Act to acheive a $1,000 genome, each with a different technological strategy. With a more affordable price tag for sequencing an entire genome of 20,000 genes in a matter of minutes, DNA information could become a routine part of medical care. Just like a simple blood test, an inexpensive whole-genome DNA scan could help health care providers in the future choose effective, personalized treatments in an office or clinic setting. Moreover, it could unlock cures and insights into some of the most debilitating diseases existing today, while also creating many new skilled jobs in the process.
Cardiovascular Disease
Cardiovascular disease is the leading cause of death in the United States and is rapidly becoming the most common cause of death and disability throughout the world. It can cause chest discomfort and activity limitation and, in its more severe forms, heart attacks, strokes, heart failure, and sudden death. Over the past 50 years, death rates from this disease have steadily declined, but the aging U.S. population and increased prevalence of obesity and diabetes threatens to reverse that trend. In Fiscal Year 2009, NIH awarded $396 million in Recovery Act funds to study this debilitating disorder.
A prime example of the real benefit afforded by these additional funds is the project to sequence the DNA of participants in the Framingham Heart Study. For over sixty years and three generations, the Framingham Heart Study has been identifying the common factors or characteristics that contribute to cardiovascular disease. Through detailed medical histories, physical exams, and laboratory tests, scientists have monitored this disease in over 15,000 participants who had not yet developed overt symptoms or suffered a heart attack or stroke. This research has yielded information about high-blood pressure, high-blood cholesterol, smoking, obesity, diabetes, and physical inactivity – as well as a great deal of valuable information on the effects of related factors such as blood triglyceride and HDL cholesterol levels, age, gender, and psychosocial issues. It has been one of the most comprehensive sources of information about the causes of cardiovascular disease.
With Recovery Act funds, researchers will be able to sequence the DNA of hundreds of participants of this large-scale study and the DNA of participants of several other NIH studies, enabling the wide-scale identification of genetic contributors to cardiovascular disease and the biological pathways that underlie it. Nothing like this has been done before, and the results could uncover the secrets to cardiovascular disease, its causes, and possible approaches to its treatment and prevention.
The Cancer Genome Atlas Project
NIH -funded research has inspired a revolution in how one thinks about cancer. Cancer is the second leading cause of death in the United States after heart disease. In 2010, it is estimated that nearly 1.5 million new cases of invasive cancer will be diagnosed in this country and more than 560,000 people will die of the disease. 63
For over sixty years and three generations, the Framingham Heart Study has been identifying the common factors or characteristics that contribute to cardiovascular disease. With Recovery Act funds, researchers will be able to sequence the DNA of the participants of the famous Framingham Heart Study, enabling the wide-scale identification of genetic contributors to cardiovascular disease and the biological pathways that underlie it. Credit: Framingham Heart Study
The Cancer Genome Atlas project (TCGA) is a large-scale collaborative effort to comprehensively characterize the genomic alterations and molecular pathways involved in the development of human adult cancers. TCGA was initiated in 2006 as a three-year pilot project that focused on the characterization of three tumor types. Recovery Act funding is allowing the expansion of TCGA to include more than 20 cancer types.
Thanks to Recovery Act funding, NIH is now able to fund research into breast cancer, colon cancer, gastric cancer, brain cancer, and approximately 20 other types of cancer. 64 In total, it is estimated that more than 10 million Americans will be affected by the 20 plus types of cancer to be studied by TCGA, a 33-fold increase over the 300,000 affected by the three cancers studies in the TCGA Pilot program. 65
Source: NIH staff estimates.
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Thanks to Recovery Act-funding, the Cancer Genome Atlas project will be able to conduct research on cells like these breast cancer cells (seen above), leading to advances in the diagnosis and treatment of breast cancer, leukemia, pancreatic cancer, and brain, and other nervous system cancers. Photo Credit: National Cancer Institute, http://visualsonline.cancer.gov/details.cfm?imageid=1989 (accessed August 20, 2010).
The increase in number of cancers being studied, combined with the emergence of powerful new technologies to sequence and analyze cancer genomes, could fundamentally change cancer research and, ultimately, cancer treatment. For example, TCGA data and insights gained from other Recovery Act-funded research could substantially shorten the time and reduce the costs involved in drug development. The information on genomes generated as a result of this study could eventually allow doctors to identify the genetic subtype of cancer affecting a patient. This means that specific, targeted treatments could be chosen for their efficacy and tailored to the patient in ways never possible before. In addition, this study could help develop preventative measures, and ways to target and intervene with cancer long before any tumor develops or symptoms first appear.
Autism Spectrum Disorder
Autism Spectrum Disorder (ASD) is a complex developmental disability that causes severe and pervasive impairment in thinking, feeling, language, and the ability to relate to others. The Centers for Disease Control and Prevention estimates that between 1 in 80 and 1 in 240 children in the U.S. have been diagnosed with ASD. 66
In Fiscal Year 2009, NIH awarded $64 million in Recovery Act funds to research on ASD. 67 This is an almost 50 percent increase over the amount of non-Recovery Act funds awarded in this area ($132 million), and represents the largest-ever infusion of funding for ASD research. The investment has enabled NIH to fund groundbreaking research that otherwise would not have been possible, in areas such as improved screening, early detection, potential interventions and therapeutics, and determination of the precise causes and mechanisms underlying this disorder, which are still largely unknown.
This image of the human brain uses shape and color to demonstrate neurological differences between two individuals. According to the National Institute of General Medical Sciences, the front portion of the brain that is associated with complex thought varies the most between the people. Near the back, the blue ovals mark areas of basic function that vary little. Recovery Act-funding is supporting researchers in California who are also using brain imaging techniques such as this to identify changes in infant brain structure and connectivity that may serve as early indicators of ASD.
Source: National Institute of General Medical Sciences, Biomedical Beat ,”Cool Image: Mapping Brain Differences,” (October 18, 2005),http://publications.nigms.nih.gov/biobeat/05-10-18/ (accessed August 20, 2010). Photo Credit: Arthur Toga, University of California, Los Angeles
For example, a multi-site collaborative network of large-scale DNA sequencing centers, which includes researchers from Massachusetts to Texas, is assessing their combined study populations to provide unique insights on the biological roots of the disorder and reveal genes and pathways representing high-priority targets for developing novel treatments. 68, 69 Researchers in California, who have also received funding, are using brain imaging to identify changes in infant brain structure and connectivity that may be early indicators of ASD. This project is aimed at enabling diagnosis of children at a younger age. The results of these and many other studies in this area funded by the Recovery Act have the potential to transform the lives of children and adults living with this disorder.
60 NIH staff estimates.
61 The NIH Fiscal Year 2011 Congressional Justification Overview cites the current cost of sequencing a genome at $50,000.
62 Alison Davis, “Dr. Stephen Turner: Creating DNA Sequencing Solutions,” National Institutes of Health, (December 21, 2009), http://recovery.nih.gov/stories/genome.php (accessed August 20, 2010).
63 National Institutes of Health, Research Portfolio Online Reporting Tools, “ARRA Investments in the Cancer Genome Atlas Project (TCGA),” http://report.nih.gov/recovery/investmentreports/ViewARRAInvRpt.aspx?csid=128 (accessed August 20, 2010).
64 National Cancer Institute, The Cancer Genome Atlas, “Cancers Selected for Study,” http://tcga.cancer.gov/wwd/cancers_studied_by_tcga.asp (accessed August 20, 2010).
65 NIH Staff estimate
66 Centers for Disease Control and Prevention, “Autism Spectrum Disorders: Data and Statistics,” http://www.cdc.gov/ncbddd/autism/data.html (accessed August 20, 2010).
67 The source of all amounts of NIH funds on specific diseases is http://report.nih.gov/rcdc/categories/ (accessed August 20, 2010).
68 National Institutes of Health, Research Portfolio Online Reporting Tools, “ARRA Investments in Autism Spectrum Disorders-1,” http://report.nih.gov/recovery/investmentreports/ViewARRAInvRpt.aspx?csid=268 (accessed August 20, 2010).
69 National Institutes of Health, Research Portfolio Online Reporting Tools, “ARRA Investments in Autism Spectrum Disorders-2,” http://report.nih.gov/recovery/investmentreports/ViewARRAInvRpt.aspx?csid=179 (accessed August 20, 2010).