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Subject: NHGRI BROADENS SEQUENCING PROGRAM FOCUS ON INHERITED DISEASES,
MEDICAL APPLICATIONS
U.S. Department of Health and Human Services NATIONAL INSTITUTES OF HEALTH
NIH News National Human Genome Research Institute (NHGRI)
<http://www.nhgri.nih.gov/> Embargoed for Release: Tuesday, December 6,
2011, 12 p.m. EST
CONTACT: Omar McCrimmon, National Human Genome Research Institute,
301-402-0911, <e-mail:[log in to unmask]>
NHGRI BROADENS SEQUENCING PROGRAM FOCUS ON INHERITED DISEASES, MEDICAL
APPLICATIONS
A new funding plan by the National Human Genome Research Institute (NHGRI)
sharpens the focus of its flagship Genome Sequencing Program on medical
applications. In addition to continuing on-going studies, the four-year,
$416 million plan launches new efforts to find causes of rare inherited
diseases and accelerate the use of genome sequence information in the
medical care of patients.
Since 1996, NHGRI has supported a large-scale production sequencing program,
primarily involving groups at The Broad Institute
(http://www.broadinstitute.org/), Cambridge, Mass.; The Genome Institute at
Washington University (http://genome.wustl.edu/), St. Louis; and the Human
Genome Sequencing Center at Baylor College of Medicine
(http://www.hgsc.bcm.tmc.edu/), Houston. These three centers generated most
of the U.S. sequence contribution to the Human Genome Project
(http://www.genome.gov/hgp/), which ended in 2003. Since then, they have
produced large amounts of genomic data for numerous studies, including the
1000 Genomes Project (http://www.1000genomes.org/), a study of human genetic
variation, and The Cancer Genome Atlas (http://cancergenome.nih.gov/), an
NHGRI partnership with the National Cancer Institute (NCI) to identify
genomic changes involved in cancer. The centers' research has also provided
a test bed for the technological advances that drove down the cost of genome
sequencing to a point where its use in medical care may become practical.
Like NCI, NHGRI is part of the National Institutes of Health.
"In the strategic plan published earlier this year, we described NHGRI's
vision for fulfilling the promise of genomics to advance human health," said
NHGRI Director Eric D. Green, M.D., Ph.D. "The vision builds on the success
of the Human Genome Project and of the genomic studies that have been
pursued since its completion; it charts a course to accelerate the
application of genomics to medical care. With the investments made over the
last decade, and the new ones that we are now announcing, we believe we are
moving along the path towards the realization of genomic medicine."
LARGE-SCALE GENOME SEQUENCING CENTERS
The Genome Sequencing Program's new funding will be distributed over four
years starting in fiscal year 2012. The largest share of the program-
initially $86 million a year -- will go to the large genome sequencing
centers at the Broad Institute, Washington University and Baylor College of
Medicine.
The funding will support each center's ongoing basic research into how the
human genome works; studies on the genetic contributions to common complex
illnesses, such as diabetes and heart disease; and ongoing special projects,
such as The Cancer Genome Atlas. The centers will also be involved in new
medical initiatives, and will continue to implement technological advances
in DNA sequencing and information management systems; develop new techniques
and software to analyze and understand the massive amounts of DNA sequence
data now being produced; and continue to train genomic researchers and
technicians.
"NHGRI relies on the large-scale centers to be its sequencing production and
intellectual powerhouses," said Adam Felsenfeld, Ph.D., program director for
NHGRI's Genome Sequencing Program in the Division of Extramural Research.
"They carried the heaviest workloads for NIH during the Human Genome
Project, and they have become world leaders in genomics. We look forward to
their continued contributions to increasing the value of genome sequencing
for both biology and biomedicine."
NHGRI will fund the three centers as follows:
The Broad Institute, Cambridge, Mass.
Principal Investigator: Eric Lander, Ph.D.
$35.9 million in the first year
The Genome Institute at Washington University, St. Louis Principal
Investigator: Richard Wilson, Ph.D.
$28.4 million in the first year
Human Genome Sequencing Center, Baylor College of Medicine, Houston
Principal Investigator: Richard Gibbs, Ph.D.
$21.3 million in the first year
NHGRI plans a gradual reduction in the base funding for the large-scale
centers over the next several years as the cost of sequencing continues to
drop. The savings will be repurposed as new research opportunities arise.
MENDELIAN DISORDERS GENOME CENTERS PROGRAM
An estimated 25 million Americans suffer from an inherited disease; most of
these are considered rare, afflicting fewer than 200,000 people. Some are
well-known, such as cystic fibrosis and muscular dystrophy, but many more
are so rare that they affect only a few dozen families. Of the more than
6,000 rare diseases, researchers have found the genetic cause for fewer than
half, and of these, merely one-tenth have treatments.
Doctors call these diseases Mendelian disorders because they tend to be
caused by a mutation in a single gene and are inherited in a pattern first
identified by the 19th century Augustinian friar Gregor Mendel.
Recent advances in genome sequencing offer the hope that many, if not most,
of the genes responsible for these illnesses can be identified through
focused research efforts. NHGRI will partner with the National Heart, Lung
and Blood Institute (NHLBI) to invest $48 million over the next four years
to rapidly and systematically find the genetic underpinnings of these
illnesses.
NHGRI will provide $40 million and NHLBI $8 million to fund three centers,
as follows:
Center for Mendelian Genomics, University of Washington, Seattle Principal
Investigators: Deborah Nickerson, Ph.D.; Michael Bamshad, M.D.; Mark
Rieder, Ph.D.; Jay Shendure, M.D., Ph.D.
$5.2 million per year
Center for Mendelian Disorders, Yale University, New Haven, Conn.
Principal Investigators: Richard Lifton, M.D., Ph.D.; Murat Gunel, M.D.;
Shrikant Mane, Ph.D.; Mark Gerstein, Ph.D.
$2.8 million per year
Baylor-Johns Hopkins Center for Mendelian Genetics Principal Investigator:
David Valle, M.D. (Hopkins); Co-investigator: James Lupski, M.D., Ph.D.
(Baylor)
$4 million per year
The three centers will collaborate with a worldwide network of rare disease
experts to sequence the genomes of thousands of patients and their family
members to identify the genetic variants responsible for the disorders.
"We expect that the knowledge about genetic variants that underlie Mendelian
disorders will facilitate rapid and accurate diagnosis and might lead to new
therapeutic approaches," said Lu Wang, Ph.D., NHGRI program director for the
Mendelian Disorders Genome Centers Program. "This knowledge can also shed
light on more common, complex diseases that involve similar genes, pathways
and phenotypes, and contribute to the understanding of basic human
genetics."
To jumpstart these projects, the centers already have solicited thousands of
samples from researchers studying several hundred rare disorders. The
centers will continue to solicit samples and maintain a public list of
available materials. The University of Washington will serve as the
coordinating center for the program.
The centers also plan to join the International Rare Disease Research
Consortium, whose goal is to develop diagnoses of most rare diseases and
treatments for about 200 disorders by 2020.
CLINICAL SEQUENCING EXPLORATORY RESEARCH PROJECTS
To help speed up the application of genomic science to medical care, NHGRI
will invest $40 million over four years to support five Clinical Sequencing
Exploratory Research Projects, in which new multi-disciplinary research
teams will explore the ways in which healthcare professionals may use genome
sequencing information in a medical care setting. Physicians, ethicists,
genomic scientists, patients and families will work together to learn
important lessons about the use of genome sequencing in medical care and to
develop methods to improve its use in the future.
"At NHGRI, we foresee genome sequencing becoming a routine part of medical
care. We regularly now hear anecdotal accounts of people who have already
made remarkable recoveries from illness thanks to applications of genomic
medicine, especially for some types of cancer and acute diseases," said Brad
Ozenberger, Ph.D., NHGRI's program director for Genomic Medicine, who is
overseeing the new initiative with Jean McEwen, J.D., Ph.D., program
director for the Ethical, Legal, and Social Implications Program. "These
projects are exploring the best ways to widen the use of genomic medicine in
an effective, responsible, respectful way."
Clinical Exploratory Research Projects will answer questions such as how to
incorporate genomic data into medical records, what tools are needed to
extract relevant information from a patient's genome sequence, and how the
availability of genome sequence data affects a physician's recommendations
regarding treatment.
The research will include important ethical and psycho-social elements, such
as how patients should be counseled and educated before having their genome
analyzed, the best way to acquire patient consent to participate in a study,
and when to return findings to patients that are not related to the primary
medical condition for which the test was done. The program will also
provide a forum for the development and dissemination of innovative and best
practices for clinical genome sequencing.
The funded projects are:
Baylor College of Medicine, Houston
Principal Investigators: Sharon Plon, M.D., Ph.D. and Will Parsons, M.D.,
Ph.D.
$1.8 million per year
Brigham and Women's Hospital, Boston
Principal Investigator: Robert Green, M.D., M.P.H.
$2.4 million per year
Children's Hospital of Philadelphia, Philadelphia Principal Investigators:
Ian Krantz, M.D. and Nancy B. Spinner, Ph.D.
$2.2 million per year
University of North Carolina, Chapel Hill, N.C.
Principal Investigator: James Evans, M.D., Ph.D.
$1.6 million per year
University of Washington, Seattle
Principal Investigator: Gail Jarvik, M.D., Ph.D.
$2.3 million per year
The National Cancer Institute will contribute an additional $2 million a
year for four years to the program, specifically supporting research at the
University of Washington and Baylor College of Medicine, which are primarily
focused on clinical research questions relevant to cancer patients. The NCI
contribution will allow NHGRI to shift funding to additional research under
this program.
INFORMATICS TOOLS FOR HIGH-THROUGHPUT SEQUENCE DATA ANALYSIS
The final component of the new Genome Sequencing Program focuses on the need
to create robust, well-documented and well-supported computer software
programs that can be used by investigators outside of large centers to
analyze genome sequence data. As the falling cost of DNA sequencing
technology has increasingly allowed small laboratories to own and operate
their own instruments, it has become clear that data analysis is now the
major challenge for the field. Many sequence analysis tools have been
developed, but their use is too often limited because they require
sophisticated or expert skills to install and use.
NHGRI will invest nearly $20 million over four years to fund the further
development of existing software to make it more generally accessible and to
accelerate the ability of investigators to analyze genome sequence data.
For this program, the institute will use various funding mechanisms,
including cooperative agreements and Small Business Innovation Research
grants. These awards will be made early in 2012.
NHGRI is one of the 27 institutes and centers at NIH. The NHGRI Division of
Extramural Research supports grants for research and training and career
development at sites nationwide. Additional information about NHGRI can be
found at <www.genome.gov>.
About the National Institutes of Health (NIH): NIH, the nation's medical
research agency, includes 27 Institutes and Centers and is a component of
the U.S. Department of Health and Human Services. NIH is the primary federal
agency conducting and supporting basic, clinical, and translational medical
research, and is investigating the causes, treatments, and cures for both
common and rare diseases. For more information about NIH and its programs,
visit <www.nih.gov>.
NIH...Turning Discovery into Health
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<http://www.nih.gov/news/health/dec2011/nhgri-06.htm>.
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