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National Advisory Council for Human Genome Research
Summary of Meeting
May 23, 2005
The open session of the National Advisory Council for Human Genome Research
was convened for its thirty-ninth meeting at 8:39 a.m. on May 23, 2005 at the
Fishers Lane Conference Center, Rockville, Md. Francis Collins, Director of
the National Human Genome Research Institute, called the meeting to order.
The meeting was open to the public from 8:39 a.m. until 12:56 p.m. on May 23,
2005. In accordance with the provisions of Public Law 92-463, the meeting was
closed to the public from 12:56 p.m. on May 23, 2005 until adjournment for the
review, discussion, and evaluation of grant applications.
Council members present:
Vicki Yates Brown
David Burgess
Geoff Duyk
Marilyn Coors
Sean Eddy
Mary Hendrix
Eric Juengst
Bronya Keats
Alice Martin, ad hoc
Jeffrey Murray
Richard Myers
George Weinstock
Robert Tepper
Council members absent:
Beverly Gaines
William Gelbart
Tadataka Yamada
Ex Officio member absent:
Gerard Schellenberg
Staff from the National Human Genome Research Institute:
Vence Bonham, OD
Joy Boyer, DER
Lisa Brooks, DER
Comfort Browne, DER
Cheryl Chick, DER
Monika Christman, DER
Francis Collins, OD
Karen DeLeon, OD
Tanya Dougans, DER
Elise Feingold, DER
Adam Felsenfeld, DER
Barbara Fuller, OD
Bettie Graham, DER
Alan Guttmacher, OD
Mark Guyer, DER
John Hodges Howell, DER
Rebecca Kolberg, OD
Laura Liefer, DER
Carson Loomis, DER
Jessica Melone, DER
Jean McEwen, DER
James McWilliams, DER
Patrick Nailer, DER
Ken Nakamura, DER
Vivian Ota Wang, DER
Brad Ozenberger, DER
Diane Patterson, DER
Allison Peck, DER
Rudy Pozzatti, DER
Eddie Rivera, OD
Jerry Roberts, DER
Jeff Schloss, DER
Pam Sellman, DER
Geoff Spencer, OD
Shundel Stephenson, DER
Gary Temple, DER
Larry Thompson, OD
Susan Vasquez, OD
Kris Wetterstrand, DER
Jonathan Witonsky, DER
Lynn Zacharia, DER
Others present for all or a portion of the meeting:
Diane Baker, Genetic Alliance
Joann Boughman, American Society of Human Genetics (liaison)
Linda Brady, NIMH, NIH
Andrew Feinberg, Institute of Genetic Medicine, Johns Hopkins University
Rodney Howell, American College of Medical Genetics (liaison)
Sharon Olsen, ISONG/Johns Hopkins University School of Nursing (liaison)
Ari Patrinos, Department of Energy
Susan Poland, Georgetown, Kennedy Institute of Ethics
Gene Russo, The Blue Sheet/Washington Fax
Sharon Terry, Genetic Alliance (liaison)
Wendy Uhlmann, National Society of Genetic Counselors (liaison)
Introduction of Liaisons and New Employees
Mark Guyer introduced Sharon Terry as the new liaison from the Genetic Alliance.
Dr. Guyer also introduced new employees Carson Loomis, a DER Program Director,
and Marina Amoroso, working in the Office of the Director. Dr. Guyer noted departing
employees Michael Shi, a DER Program Director, and Shira Katseff and Jonathan
Witonsky, two DER Program Analysts.
Approval of Minutes
The minutes from the February 2005 Council meeting were approved as submitted.
Future Meeting Dates
The following dates were proposed for future meetings: September 12-13, 2005,
February 13-14, 2005, May 22-23, 2006, September 11-12, 2006, and February 12-13,
2007.
Director's Report
General Announcements
Research!America recently announced that Mary Hendrix has been elected as a
new member to their board.
Two researchers from the NHGRI Division of Intramural Research (DIR), Paul
S. Meltzer, M.D., Ph.D. and Pu Paul Liu, M.D., Ph.D. were recently named as
members of the Association of American Physicians (AAP) during the joint meeting
of the Association of American Physicians and the American Society for Clinical
Investigation.
The National Academy of Sciences announced newly elected members, several of
whom are genome and genetics researchers and are, or have been, NHGRI grantees,
advisors and/or reviewers. They are David C. Page, Mary-Claire King, Daniel
L. Hartl, Steven Henikoff, Brigid L.M. Hogan, Christine E. Seidman, and Alec
John Jeffreys.
UNC researchers Skip Bollenbacher, Caroline Seay, and Rich Beckman were announced
as winners of the 2005 Pirelli INTERNETional Award for the group's Microarrays
MediaBook. The animated MediaBook was picked as the best product of multimedia
education.
The Center for Scientific Review (CSR), the division of NIH that carries out
peer reviews, announced the appointment of Antonio Scarpa, M.D., Ph.D. as new
director. Dr. Scarpa is currently professor and chair of the Department of Physiology
and Biophysics at Case Western Reserve University.
Barbara Alving, M.D. will serve as Acting Director of the National Center for
Research Resources (NCRR). Dr. Alving last served as the Deputy Director of
the National Heart, Lung, and Blood Institute (NHLBI). Former NCRR director
Judith Vaitukaitis, M.D. will serve as the Senior Advisor on Scientific Infrastructure
and Resources to the NIH Director.
In response to conflicts of interest regarding NIH employees, the Interim Final
Ethics Regulations in the Federal Register were made effective as of February
3, 2005. All outside activities with prohibited organizations, including pharmaceutical
and biotechnology companies, grantee institutions, trade organizations, and
consumer groups were to cease as of May 4, 2005. While it was critical to take
steps to ensure that conflict of interest was not occurring, the new regulations
are quite severe. All NIH employees would have to relinquish stock holdings
above a de minimis amount in biotech or pharma, which could be a significant
financial loss to those who would not be necessarily be viewed as in conflict.
The regulations, in their current form, also prohibit intramural investigators
from participating on a board or in a leadership position for not-for-profit
organizations. It is expected, however, that revisions will come soon regarding
divestiture and prohibition of NIH scientists from holding positions with non-profit
organizations. In the meantime, there are high-level NIH scientists who have
expressed discomfort with the new regulations and their impact on employees.
On April 29th, NIH issued the new "Policy on Enhancing Public Access to
Archived Publications Resulting from NIH-Funded Research." The Policy requests
and strongly encourages all NIH-funded investigators to make their peer-reviewed
final manuscripts available to other researchers and the public at the NIH National
Library of Medicine's PubMed Central immediately after the final date of journal
publication. At the time of submission, authors are given the option to release
their manuscripts at a later time, up to 12 months after the official date of
final publication.
Applied Biosystems will deposit its sequence data from the human, mouse and
rat genomes in GenBank, following the lead of the International Sequencing Consortium,
which is a proponent of placing sequence information in the public domain according
to the Bermuda Rules. The decision to release the information on July 1, 2005
will coincide with the expiration of subscriptions to Celera's database.
CNN has chosen the Human Genome Project as the number one medical story from
the last 25 years.
New NHGRI Initiatives
As a component of a trans-NIH effort to apply the tools of genomics to the
problem of sickle cell disease, RFA-HG-05-002, "Training in Genomics and
Hemoglobinopathies," was issued to solicit applications to train experts
in hemoglobinopathies in genomic science and methodologies. The application
receipt date for this RFA is July 12, 2005.
Recent Scientific Accomplishments and Issues
NHGRI - Extramural Program
Genomic Sequencing
- At the February 2005 Council meeting, projects were approved to sequence
the marmoset genome and 280,000 single nucleotide polymorphisms (SNPs) from
a total of eight rat strains.
- Papers on the finished sequences of three human chromosomes -- X, 2 and
4 - were published.
- A Bovine Genome Project workshop was held from March 29-31, 2005; discussion
included progress toward completion of the bovine genome sequence and biological
applications of the sequence.
- A public meeting was held for discussion between members of the Mouse Genome
Sequencing Consortium (MGSC) and researchers from the mouse community to discuss
issues concerning the finishing of the mouse genome sequence.
- Members of the International Sequencing Consortium met during the Cold Spring
Harbor Biology of Genomes workshop to discuss coordination of target selection
and other aspects of large-scale sequencing progress.
- A new working group has been formed, with the purpose developing proposals
for the use of NHGRI's existing large-scale sequencing capacity on medically
relevant projects. The Medical Sequencing Working Group (MSWG) is chaired
by David Altshuler, Les Biesecker, and Jeff Botkin. The MSWG's recommendations
will be integrated by the Coordinating Committee with those of the Working
Groups on Annotating the Human Sequence and on Comparative Genome Evolution
to define a sequencing program that will both drive technology development
and produce vital genomic sequence information for biomedical research.
- Human Cancer Genome Project. The National Cancer Institute and the National
Human Genome Research Institute have begun a collaborative initiative in comprehensive
genomic analysis of tumors. The Human Cancer Genome Project was initially
proposed by a Working Group on Biomedical Technology to the National Cancer
Advisory Board. The working group, which was chaired by Lee Hartwell and Eric
Lander, strongly recommended the application of genomics to the cancer problem
to develop a complete atlas of genomic changes associated with major cancer
types, in order to foster new approaches to prevention, drug development and
cancer therapy. An NCI/NHGRI staff group, spearheaded by Anna Barker, NCI,
and Jane Peterson, NHGRI, is now working to develop an implementation plan
for the HCGP. At present, a three-phase approach is being considered, starting
with a "demonstration phase" using currently funded capacity to
initiate the project as soon as possible and to start investigating some of
the basic issues in sample acquisition (including appropriate informed consent)
and sequencing technology. This will be followed by a "pilot phase"
involving the comprehensive analysis of a small number (probably two or three)
tumor types to assess the feasibility and value of the proposed approach of
comprehensive analysis. Participation in the pilot project will be solicited
through a combination of RFAs and RFPs, with the goal of initiating funding
with FY06 funds. Technology development will also be an important component
of the pilot phase. Assuming success of the pilot, the full-blown production
phase, in which analysis of 50 major tumor types was recommended by the NCAB
Working Group, will require a large investment.
Council member George Weinstock noted the opportunity for a connection between
the ENCODE project and this initiative, as there are significant similarities
between the two in terms of the kinds of technologies that will be needed for
complete genomic analysis, the scale-up issues and the management demands. Sean
Eddy mentioned the negative press coverage that this initiative has already
received, including an article in the New York Times and one in Nature Biotechnology,
neither of which accurately described the Hartwell-Lander report. Other Council
members commented on the challenges associated with issues such as data transfer
issues, information sharing, and reimbursement for diagnostic tests.
HapMap
- A very successful meeting was held in March, in Oxford, in which HapMap
scientists and users of the HapMap discussed the use of HapMap data for mapping
disease genes and for population genetic analyses.
- Three back-to-back papers were recently published reporting the use of the
HapMap to identify the genetic basis of macular degeneration. The three groups
reported that a common variant in the Complement Factor H gene (CFH) on human
chromosome 1q31 contributes a substantial fraction of hereditary risk.
Encyclopedia of DNA Elements (ENCODE)
The next ENCODE Consortium meeting will be held in July. Immediately prior
to the Consortium meeting, a "data fest" will be held, at which researchers
from all of the groups participating in the ENCODE Project will jointly analyze
the ENCODE datasets, interpret the results of the analyses, and identify gaps
in the current strategies for determining the location of all functional elements
in the human genome. For this purpose, an ENCODE Analysis Working Group has
been formed, with five subgroups, each of which is focused on a different set
of sequence elements. The five subgroups are Genes and Transcripts, Transcriptional
Regulatory Elements, Chromatin and Chromosomes, Multi-species Sequence Analysis,
and Sequence Variation. The results of the data fest will form the major agenda
topic for the subsequent Consortium meeting, and will then comprise one of the
major inputs into the NHGRI's assessment of the progress of the ENCODE pilot
and to the Institute's decisions about whether the project is ready to scale
to the entire human genome.
Mammalian Gene Collection (MGC)
As of May 10, 2005, the MGC contained a non-redundant set of 12,424 human,
11,334 mouse, and 3,843 rat genes. The MGC infrastructure still supports the
cloning and sequencing of Xenopus and zebrafish genes.
Mouse Genomics
Mouse Transcriptome. Eleven NIH Institutes and Centers, led by NHGRI, funded
a project to profile comprehensively the RNA content of 90 mouse tissues. The
results have been deposited at the NCBI Gene Expression Omnibus (GEO) site (http://www.ncbi.nlm.nih.gov/projects/geo/info/mouse-trans.html),
and on the Lynx/Solexa website (http://sgbpub.lynxgen.com). Analysis of the
large amount of data generated is being performed by an international team.
- Knockout Mouse Project (KOMP). Attendees at a Banbury meeting during
the fall of 2003 recommended construction of a public resource comprised of
a comprehensive collection of mouse knockout mutations, i.e. a library composed
of a marked null mutation in every gene of the mouse genome. Since the Banbury
meeting, there has been a significant amount of activity around the world
to implement the recommendations. In March, 2005, the NIH held a workshop
to discuss the current status of the field, international initiatives being
planned to produce more knockouts, and the role that NIH should play to ensure
that the envisioned mouse knockout resource is completed. The workshop endorsed
the Banbury recommendations, and added additional recommendations: 1) completion
of the resource by construction of marked nulls in the 10,000 mouse genes
in which nulls have not already been generated; 2) development of C57BL/6
ES cell lines as a system for generation of knockout mutants in an experimentally
tractable genetic background; 3) "repatriation" (collection into
a publicly accessible repository) of existing ES cells and mice as, otherwise,
these mutants will have to be remade at considerable additional expense. Also
at the meeting, representatives of other international efforts to make knockout
mice described their plans. The most advanced of these, in terms of implementation,
is a European project, known as EUCOMM, which plans to generate a large resource
of conditional mutations in ES cells. Other conditional knockout programs
are planned elsewhere, and the meeting attendees enthusiastically supported
the concept that an NIH-supported collection of null mutations would be a
very important complement to the collection of conditional knockouts.
NHGRI - Intramural Program
- Researchers in the laboratory of Dr. Jennifer Puck have developed a new
laboratory method that rapidly identifies babies born with inherited forms
of Severe Combined Immune Deficiency (SCID).
- The intramural program is discussing a medical sequencing project that would
interact with the ENCODE project to investigate, on a pilot scale, a number
of issues that need to be addressed in order for medical sequencing to become
a component of routine medical care.
NHGRI Office of the Director
National DNA Day. On April 25, 2005, "National DNA Day," teachers
and students across the nation participated in the annual celebration of the
genome, using educational tools provided by NHGRI. As part of the festivities,
NHGRI hosted an on-line webcast/chatroom in which students were able to ask
NHGRI researchers many questions of interest to them. DNA Day has been sponsored
by NHGRI, ASHG, The Genetic Alliance, the National Society of Genetic Counselors
(NSGC) and the Genetics Society of America (GSA). This year two new partnerships,
with the National Science Teacher's Association and the National Association
for Biology Teachers, were added. Another component of DNA Day was The Ambassador
Program, in which 55 NHGRI Investigators visited 60 high schools throughout
the month of April. 75% of schools visited this year were identified as 'outreach'
schools. Another program, Teach the Teachers, involved 11 high school science
teachers invited to the NIH to review DNA Day materials and provide feedback.
Family History Initiative. The agencies involved in the U.S. Surgeon General's
Family History Initiative are making plans for National Family History Day on
Thanksgiving Day, 2005. NHGRI is working with the Foundation for NIH to look
at the possibility of raising funds for future family history activities.
Community Genetics Forum. Seattle, Washington was chosen as the first site
outside of Bethesda to hold a Community Genetics Forum because of the very strong
genomic presence and established outreach activities in that community. The
event was very successful, with 340 people attending the Forum in April. A long
list of follow-up activities is now being pursued.
NHGRI - Policy
NAS Committee on intellectual property. The National Academy of Sciences
Committee on Intellectual Property Rights in Genomic and Protein-Related Inventions
has been conducting a study funded by the NHGRI, NIGMS, NCI, NIDCR, and the
NIH OD. The committee held its final meeting in April and is now attempting
to finalize a report. There is apparently general agreement on a set of recommendations
for the report and June review is anticipated. The review is scheduled to last
six weeks, after which the report will be released to the NIH.
FY06 Appropriation. At the end of April, Congress passed its budget
blueprint for FY06. This includes the Administration's FY06 request for NIH
of $28.7 billion, which is an increase of less than one percent. The Senate
Budget Committee had passed an amendment to its version of the budget that would
have provided an additional $1.5 billion for the NIH, but that was not incorporated
into the final budget resolution. This summer, the House and Senate Labor-HHS
Appropriations Subcommittees will attempt to move the appropriations bill for
the NIH. It is anticipated that the NIH will not receive funds beyond the President's
budget.
NIH Reauthorization. The House Committee on Energy and Commerce has
been drafting an NIH reauthorization bill over the past several months. The
NIH has not been formally authorized by Congress since 1993, but since we are
authorized to exist under the Public Health Service Act, yearly authorization
is not required. Following a March 17th committee hearing at which Dr. Zerhouni
testified, the committee staff identified three major areas to be considered
for the legislation: 1) increasing the NIH Director's authority, 2) streamlining
NIH reporting requirements, and 3) the development of a concept known as "budget
clusters." The details on these items are not yet clear, but it has been
suggested that NHGRI would be a part of a budget cluster with other "science-enabling
institutes," such as NIGMS and NIBIB. The schedule for consideration of
the reauthorization legislation is also unclear, and the level of interest in
the Senate is unclear. The NIH is taking this effort seriously and responding
to requests from committee staff. It is important to realize that, even if reauthorization
legislation is not enacted, many of the issues raised in the process could be
addressed in other ways. There are a few specific items that NHGRI would like
to see covered in any NIH reauthorization bill, including updating of Title
42 and legislative authorization of the Institute.
Genetic Information Nondiscrimination Act. The U.S. Senate unanimously
passed S. 306, the Genetic Information Nondiscrimination Act in February. While
there is hope that this bill will pass in the House this year, no action is
scheduled yet. The Coalition for Genetic Fairness, headed by Sharon Terry, has
been working closely with the offices of Reps. Biggert, Ney, Slaughter and Eshoo
(who introduced the bill) and they expect action this year. If the House were
able to pass the bill, it is expected that the President would sign it. The
Secretary's Advisory Committee on Genetics, Health and Society (SACGHS) has
also been working to bring the new Secretary up to speed on this matter, in
the hope of getting his support for the legislation.
PubChem. In 2004, as part of the NIH Roadmap Initiative to speed new
medical treatments and improved health care to all Americans, the NIH launched
a database called PubChem. PubChem is intended to be a new and comprehensive
database of chemical structures and their biological activities, and will house
both compound information from the scientific literature as well as screening
and probe data from the NIH Roadmap's Molecular Libraries Initiative (MLI).
The MLI is designed to bring chemistry into biomedical research on a large scale
for the first time, with a focus on the identification of small molecules as
new probes for biological investigations. PubChem is designed to provide access
to basic information about a wide range of chemicals, and to seamlessly integrate
this information with other databases and the biomedical literature. Hosted
by the National Center for Biotechnology Information (NCBI), PubChem will link
basic chemical information and the data generated by the MLI with the biomedical
information about DNA sequence, genes, proteins, protein structures, and cellular
pathways that is in other NCBI databases, such as GenBank, PubMed, GEO, OMIM,
and others.
Recently, the American Chemical Society (ACS) expressed concern that PubChem
is in direct competition with the ACS's Chemical Abstracts Service (CAS). While
in NIH's view, the two databases are, in fact, complementary, ACS has called
for significant limitations on PubChem. Discussions are on-going with the ACS
and other relevant participants to find a resolution that would allow the scientific
community to benefit from both data sources.
Secretary's Advisory Committee on Genetics, Health and Society (SACHGS).
The SACGHS held its sixth meeting February 28th through March 1st. Topics included
genetic discrimination, coverage and reimbursement, and a lengthy discussion
of large population studies. While there was much discussion of large population
studies to date, the committee did not yet agree on any recommendations in this
area. The next meeting of the committee is June 15-16, 2005.
Report from the U.S. Department of Energy
Dr. Ari Patrinos, the Associate Director of the Office of Biological and Environmental
Research in the Office of Science at the Department of Energy, updated the Council
on the DOE's genomics research program. The Community Sequencing Program received
proposals for sequencing the genomes of 135 organisms; after peer review, the
program is proceeding with the sequencing of the genomes of sorghum (related
to biomass issues), monkeyflower (related to bioremediation) and a number of
smaller genomes including those of some extremophiles and environmental communities.
Another area of competition was for the Genomes to Life (GTL) program, and
announcements of awards are expected soon. There is a great deal of enthusiasm
for the GTL program's emphasis on development of new facilities. A new announcement
of a competition for a protein production facility will be issued shortly. DOE's
interest is in the high-throughput production of microbial proteins, but the
facility could be used for production of proteins from other sources as well.
Dr. Patrinos also noted that some concerns have been expressed about their
synthetic biology biology program and stated that the DOE's ELSI will be expanding
to include efforts addressing this area, as well as nanotechnology.
Finally, Dr. Patrinos mentioned the uncertainty about the future of the nuclear
medicine program and the possibility of a joint DOE-NIH proposal to the National
Academy of Science for a report on the future of this field.
Presentation on Epigenomics
As a result of a request from the Council for information about epigenetics
and epigenomics, Dr. Andrew Feinberg from the Johns Hopkins University Center
for Epigenetics of Common Human Disease, one of the Centers of Excellence in
Genomic Science (CEGS), was invited for a presentation to review the field.
Epigenetics refers to the fact that DNA sequence alone does not define a cell
and its function; additional, "epigenetic" information is also inherited
during mitosis and possibly meiosis. Our understanding of epigenetics has dramatically
changed over the last 20 years.
For example, it is now know that histone proteins interact with genomic DNA
in organized structures known as nucleosomes, and that the acetylation, methylation,
phosphorylation, and ubiquination of histones affect gene expression. Histone
modification has been revealed as central to the regulation of transcription.
In another epigenetics advance, genomic imprinting is now known to be linked
to human disease. Loss of imprinting (LOI) of certain genes can be associated
with increased risk of cancer. The common occurrence of LOI suggests that stringency
of maintenance of epigenetic markers may be genetically determined.
The overall lessons of modern epigenetics are the specificity of chromatin
biochemistry, the intimate link between epigenetic programming and the machinery
of transcription, and the possibility that the epigenome may be a frequent environmental
target in common disease. The integration of epigenetics and genome science
is important. Tools for epigenotyping focus on DNA methylation, allele-specific
expression, and histone modification. Alterations in epigenetic modification
can be due to individual variation, tissue-specific variants, age-dependent
variation, or heritable markers in a family. Quantitative epigenetics is used
to test for epigenetic transmission in families or epigenotype-phenotype associations.
In summary, Dr. Feinberg argued that epigenomic biology and technology are
not as arcane as was once thought. Understanding the epigenome has the potential
for simplifying genetic analysis and understanding gene-environment interactions.
In the discussion, Council member Mary Hendrix asked about the prospect of
pharmaco-epigenomics. Dr. Feinberg discussed a few possible applications in
this area, for example looking at the epigenetic effects of a pharmacological
agent.
Dr. Collins thanked Dr. Feinberg for an interesting and provocative presentation.
Concept Clearance for a Cell Repository Contract
Lynn Zacharia presented a concept clearance for a cell repository RFP. An NHGRI-funded
sample repository would make samples collected during NHGRI-sponsored projects,
such as the HapMap and possibly medical sequencing efforts, available to the
research community.
To date, samples obtained during the HapMap Project have been maintained at
the Coriell Institute under the NIGMS Human Genetic Cell Repository contract;
this was the NIGMS contribution to the HapMap Project. However, the HapMap Project's
sample requirements have now exceeded the capacity of the NIGMS contract. Furthermore,
support for the Community Advisory Groups that have been and will be established
where HapMap samples were collected will require on-going, and perhaps expanded,
interactions with the repository. There is also a need for more flexibility
in administration of the samples. Thus, staff is proposing that NHGRI establish
its own cell repository to meet the Institute's specific needs.
The cell repository would establish cell lines for new samples, maintain and
distribute cell lines and DNA for all new and existing samples, maintain a database
and an online catalog of samples, and establish and maintain community interactions
with donor communities. HapMap samples stored in the cell repository would include
the following collections, the Yoruba from Ibadan, Nigeria; Japanese from Tokyo,
Japan; Han Chinese from Beijing, China; Luhya from Eldoret, Kenya; Metropolitan
Chinese-Americans from Denver, CO; samples of Mexican origin from Los Angeles,
CA; samples of African ancestry from the southwestern United States; Tuscans
from Sesto, Italy; samples of Gujarati Indian ancestry from Houston, TX; and
Maasai from Webuye, Kenya. The CEPH samples studied in the HapMap Project will
remain under the NIGMS contract. In total, there will be 1,120 HapMap samples
from 10 populations to start. One to four additional HapMap populations, as
well as samples from 1,000 to 10,000 phenotyped individuals from sequencing
studies, could also be included over the next five years.
The contract expenses will be the greatest during the first year due to costs
associated with establishing the repository and sample collection. If the additional
HapMap samples are collected, the cost will be $350,000 per population as these
samples will have to be transformed into cell lines.
Council voted to approve the concept for the repository RFP.
NIH Roadmap Initiatives
Bradley Ozenberger presented an update on the status of the Molecular Libraries
Initiative (MLI). One part of the initiative is designed to offer public sector
biomedical researchers access to high-throughput screening of a large collection
of small organic molecules based on investigator-submitted assays. The purpose
of the program is to identify and develop compounds that can be used as experimental
chemical probes to study the functions of genes, gene products, cellular pathways,
and cells. It is hoped that his approach will provide researchers in the academic
and public sectors with an approach to explore the functions of cells in human
health and disease that is new to them, but currently available to many of their
colleagues in the private sector. In addition to the screening component, the
MLI includes a database (PubChem, see above) to collect and disseminate the
information garnered in the Initiative, as well as technology development and
cheminformatics programs in a number of relevant areas.
The MLI is overseen by the Molecular Libraries and Imaging Roadmap Implementation
Group, which is co-chaired by three IC directors: Francis Collins of NHGRI,
Tom Insel of NIMH, and Rod Pettigrew of NIBIB. Within the MLI, the Molecular
Libraries Screening Centers Network (MLSCN), to be comprised of nine to ten
centers, including the intramural NIH Chemical Genomics Center, will provide
the high-throughput capacity for screening compounds and assays. Day-to-day
management of the extramural centers will be provided by two program managers,
Ingrid Li of NIMH and Carson Loomis of NHGRI, acting on behalf of the MLSCN
Project Team which has membership from the large number of Institutes and Centers
interested in the MLI.
NHGRI is the lead Institute for two of the technology development and cheminformatics
programs within the MLI, Screening Instrumentation Technology Development and
Exploratory Centers for Cheminformatics Research. Applications submitted in
response to RFAs for these two programs are under review and will be reviewed
by the Council at, or before, its September meeting.
Council-Initiated Discussion
There was no additional Council-initiated discussion.
Announcements and Items of Interest
Conflict of Interest
Dr. Guyer read the Conflict of Interest policy to Council and asked the members
to sign the forms provided.
Review of Applications
In closed session, the Council reviewed 168 applications, requesting $54,810,517.
The applications included 42 regular research grants, 10 pilot projects, 41
ELSI grants, 29 responses to RFAs, 1 center grant, 3 conference grants, 1 research
career development award, 1 training grant, 1 continuing education training
program, 19 SBIR Phase I grants, 6 SBIR Phase II grants, 4 fellowship grants,
3 STTR Phase I grants and 7 others. A total of 100 applications totaling $26,710,145
were recommended.
I hereby certify that, to the best of my knowledge, the foregoing minutes are
accurate and complete.
__________________ ______________________________________________
Date Mark Guyer, Ph.D.
Executive Secretary
National Advisory Council for Human Genome Research
__________________ ______________________________________________
Date Francis S. Collins, M.D., Ph.D.
Chairman
National Advisory Council for Human Genome Research
Last Reviewed: July 23, 2008
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