Director's Report (September 2012) - Eric Green

>> Thank you Mark but a morning everyone but right to see all of you. I hope you all had
healthy and productive summers. I want to start off by the open session of the session
is being webcast live. And in addition, it -- as is now routine the open session of all
Evers the national advisory Council for human Genome research will be "available as a permanent
archive of the web. And that includes both the videos of the presentations themselves
are -- as well as there is associated documents. >> Now for new members of Council and also
new web you are so there are Council meeting, I want to make use aware that there is in
the like Tronic resource analysis supplemental material available with the published paper
in the access at the URL shown on the slide but in the slides that I am using for our
directors report are also available electronically at the site -- both have the PDF and also
our ? while. >> Now for slides that are associated with
specific documents or relevant website -- there is a document number indicated in the bottom
right which then represents material which you can access at the website shown here but
and so in addition to the video archives that I mentioned earlier, this webpage has all
the linked documents -- will be archived at the site that I mentioned earlier, this webpage
has all the linked documents -- will be archived@thesite.gov as a permanent historic resource.
>> There will be multiple other presentations during the open session of the Council, am
I directors report -- is centered around these presentations I will not discuss in detail
the topics that others will be discovering -- talking about later
>> Discover -- particularly in open session later will have an update on the Genome workgroup
and we will then have a -- three workshop reports that have hope in since the last Council
meeting. There was a workshop on establishing resource data from sequencing project that
Lisa Brooks will tell you about. A workbook on covert studies and large sample collections
that Terry [ Indiscernible ] will to you about. -- Teri Manolio -- and genotype to phenotype
that Adam Felsenfeld will tell you about. >> We will have one project update on the
jaywalk catalog by Lucio -- 10 -- 1018 -- Lucia Hindorff .
>> And the deputy is to will give you an update on [ Indiscernible ] NHI and then roll in
the comments on leadership role for a number of programs to give you sort of a broad view
of our involvement in helping with the common fund efforts.
>> At this Council meeting we will be considering one concept clearance on family history implications
that he a routine clinical care. And that will be presented by Anastasia [ Indiscernible
]. >> Later this afternoon at four o'clock we
will -- it will happen at four o'clock -- we will have an update on the intramural research
program but this Council hears about research program -- roughly every year -- and so we
will start out I having an update from our scientific erector -- who collects the program.
Dan could have given this presentations from solar -- counselors and purposely deleted
because the program was undergoing a once in a decade review called the blue river and
panel review -- blue ribbon panel review -- and we will hear that report -- Rick Myers represented
Council on the project Council -- and he will be giving a presentation but also be joined
by David page they will be coming in but telephone. And David page shared the panel.
>> So that's a we have in store for us for open session. But first I directors report.
But the rest my direction report I will cover these three areas and I have at least provide
a very nice framework for reviewing the topics that are important to go through. And I will
start out with the general NHGRI documentt -- but I want to tell you the most important
updates about NHGRI that I have today comes the form of an official announcement . And
while the process that got us to that announcement from concept to final approval has taken well
over a year but I am pleased to announce today that my proposed we organizations has been
approved and will be implanted on October 1 of this year but exactly precisely 3 weeks
walk >> Earlier this morning and make sure I issued
a press release about this announcement -- that press release and various other -- is available
at this URL. genome.gov. >> I have important detail about the NHGRI
-- for the past 19 years, NHR I have had a relatively simple structure. With the office
of Director. , the division of external reviews and the internal review. Within the current
issue -- rector of the office for a ministrator management the commissions and education and
the office of population Genome Now keep in mind that in the case of external research
Mr. she was the place entirely to support the human Genome project.
>> But over the past nine years particular , tran3's program has grown centrally both
in overall size and in the diversity of its scope.
>> The based on knowledge from the HDR I for last for years -- we have a new row Graham
director -- one perfect -- probably aligned with the research that we published in February
2011 and one that I think better configures for our ongoing and future research agenda.
>> So my plan for reorganization in making major changes or external research program
-- some minor changes in the components of the office of Director. and essentially no
changes to the external program. >> Now the new organizational structure for
any chair I which takes effect in October 1 will grow the number of divisions within
the current 2 to 8 within the current 2 to 87.
>> Specifically the office of administrative management will be elevated to the division
status and because the division of management. >> Similarly the office of policy commissions
and [ Indiscernible ] will be elevated to become the division.
>> Those two new divisions will thus form from elements previously in the office of
the Director. in the office of the Director Meanwhile the office of population [ Indiscernible
] will dissolve in name but the elements of which will be corporate into the external
research program as you will see shortly. >> The division of a general -- intramural
research will not change as part of this reorganization. >> The most substantial aspect of the rear
rotation will be the creation of four new divisions that together will constitute NHGRI
external program. The division of sciences will oversee basic technology developed. The
division of do not make medicine lobby effort of the application of genomics medical science
and clinical care. The current office of population to know mics will be assumed into this new
division. >> The division of genomics for society will
be responsible or expanded program related to many societal issues relevant to genomics
research incorporating and extending the activities of this Institute's ethical social applications
are a program working to the many NHGRI wide activities in this area.
>> Finally the division of external activities will have the aspect of the external program
included scientific reviews and grants management. >> So in the end, NHGRI it will consist of
seven divisions each with a division of directors that will report to me as NHGRI director.
In this way the external research program will no longer have a single director as it
has -- since its conception rather the four vision directors of the external -- will service
the collective leadership team working with me and the director Mark prior in meeting
the external research program. >> At getting to this announcement today has
not been particularly fast because there are a number of specific steps that have to be
followed to reorganize the Institute as proposed. Specifically we follow the guidance given
in the NIH Reform Act of 2006 in terms of the process of carrying out the will such
an organization as some of you read me recall this is all too public meetings with which
we detail the pros organization and answer questions and take feedback from participants.
>> The first of these was held as a webinar on to every 18th. The second is part of this
-- the meeting of this Council on February 13.
>> Following those public meetings, with the together a final rear rotation packages submitted
it to any age leadership in late February. Upon receiving NHI receivable -- approval
they got the public of human health services. Secretary please avail yourself signed off
in late June after which the Office of Management and Budget as well as the US Congress were
notified. >> Having received no objections from those
letters to groups, we've been actually across the approval finish line and allowed us then
to reorganize -- announced the reorganization today and on October 1.
>> Now teaches success of this reorganization and indeed the future perceives -- pursuits
of NHI will be the leaders of the new structure. And so today I am also pleased to pronounce
my outstanding leadership team. Now for through the divisions they will be essentially no
change. Janus Mullaney will be the director of the division of management just as she
is now the director of the office of a ministrator management.
>> Dr. Lauren Lyman will be the division of piracy vacations in the education -- just
as now she is the division of office of policy mutations.
>> And Dr. Dan Pastor will continue to be the director of the division of entry of the
research as he is now but >> The real changes occur with the four new
external determine are all positions. Now for three of these four positions I have selected
the directors and deputy directors all long-standing members of the and HDR I -- NHGRI staff.
>> Is the actual time it should take effect once the final approval which is effective
shortly. >> Reading the division of genome sciences
will be Dr. Jeff Schloss as director and actor Peter good as Deputy Director.
>> Leading the director of Joe McManus and will be Dr. Terry Minogue Leo as director
and Brad Rosenberger as Deputy Director. >> Being the division of external operation,
will be Dr. Betty Graham as director and Dr. [ Indiscernible ] as Deputy Director -- Rudy
for Zaidi. >>
>> And formulating a plan to search for a director -- until that search as director
this division will be led on an acting basis by Dr. Mark Dyer to all of you now know of
course via the Deputy Director. >> And finally to round up his rear rotation
you will also be make in some changes in terms of senior visors but effective October 1 there
will be three senior advisers at the Institute. Dr. Jane years and has long been the associate
director of the division of external research will be a senior adviser to the Genome -- NHGRI
-- which you were closely with me Dr. Geyer. >> Then [ Indiscernible ] will be my senior
adviser on generic and health disparities -- Vance bottom. And Karen Rothenberg will
be my senior visor to the director of genomics and Society.
>> Know what has been discussed internally and raised in the public meeting and related
to the oversight and if -- execution of external intramural programs and projects in light
of the multi-divisional multi-research program -- so I thought I would say a few words about
our plan for this. >> Will the three romantic divisions -- genome
sciences, medicine and society will be organizationally separate. We plan to continue having programs
and projects overseeing in a highly collaborative fashion but in most cases involving staff
for more than one division. For example, our flagship gene of frequency program will draw
expertise from all three positions. Similarly an off the biometrics will be highly relevant
to all three divisions -- competition will biology and bio for mation for all three a
oversight. >> The biology of disease will be a major
domain of genomic research in the coming decade. And again this will involve the involvement
of staff for all three divisions. >> And one can imagine the same to be true
for the other -- both current and future programs -- future programs and projects. Down while
the details about this intersection between programs and divisions -- and maybe to be
worked out in the coming months, we are fully committed to maintaining a highly collaborative
and disciplinary nature of the NHGRI program something which has been at the heart for
many years and must be preserved. >> So in summary, this is an incredibly exciting
time for genomics research and I believe that NHGRI has a rate time to leave the field -- and
in the future. Off and lamenting the structure is an important part in the growth and structure
and evolution and one that will better position Institute pursue our expanded mission and
also to deliver our -- on our strategic exciting division for -- vision for the future.
>> And now I will return to the remaining portions of my director work.
>> Swept them a Council meeting -- we announced a new -- than national Museum am natural history
for the genome exhibition update -- it will have the -- open -- for the 60th anniversary
of the discovery of the DNA. >> Roughly 2500 square-foot high-tech high-intensity
exhibition will aim to community the revolutionary nature of Judah like and this will be offered
to buy them off the -- multifaceted outreach program which will include significant Web
development efforts. >> The goal of the overall initiative is to
reveal it to mutate the future implication of genome ex-and millions of people around
the world. >> Now the exhibition developed is moving
along quite quickly passing the 35% design these in July the
>> The purge -- Project advisory committee which includes Jim Evans as a representative
from this Council. Business -- the national Museum history continue to receive funds for
the -- with half of the five with half of the 5,000,006 nine dollars
>> With the February meeting 2013 I will have much were to report about the lead up to the
opening of the exhibition in June of next year as well as the broader plans that were
developing to commemorate the 10th anniversary of the human genome project completion.
>> While it does not happen often, it NHGRI people do retire. And Elizabeth Thompson has
entered into the land of retirement -- more accurately in the home state of Iowa. Elizabeth
continue it -- contributed her experience for 20 of the programs 22 years. She was a
driving force behind many program initiatives and successful in cystic fibrosis and captured
genetic studies. The research consortia of the 1990s to the current centers of excellence
in else the research. >> To remember her most for the passionate
support and generosity of the mentors and training of investigators but we all thank
Elizabeth for many country visions to NHGRI and wish her the very best in her retirement
years . >> As you may recall, but this year I cosponsored
a policy in the eight -- AAS HG -- the newest fellow is Laura Combs who started in the office
of director last week. Sure it comes to us from Johns Hopkins school of medicine where
she was in post-doctorate fellow in the biology to genetic. She will be working in the NHGRI
policy for the next four months before progressing to the next page of her fellowship to be in
a to be determined congressional office. >> It is notable that this month marks the
10th anniversary of the launch of the joint F8 just in a chair I -- Genome -- NHGRI -- and
it has a bridge to the girlie career transition to careers in science policy
>> The last of the NHGRI update relates to me -- in early August I traveled to Australia
with the role of learning more about the do not ask -- let's get down under this is similar
to Jessica to India last summer and I once again found it extremely valuable to see first
turned what other countries are doing it to know it's particularly in the applications
of genetic medicine. >> Trip was largely choreographed from a good
friend in colleague -- [ Indiscernible ] who actually recently became being given a medical
school at Macquarie University in Sydney. >> For me it was a five talk for city five-day
romp around Australia in addition to Macquarie University I visited the Institute in Sydney
for the bioscience bridge brain and the [ Indiscernible ] Newhall medical in search -- and [ Indiscernible
]. >> Are suspended in the national health research
Council it and HMR see in camera which is Australia's equivalent to the NIH. There I
met with Dr. Laura Anderson shown here who is CEO and the [ Indiscernible ] in the and
HRC -- by staff I spent several hours with and the numerous meetings with scientists
at the week, it became very clear that Australia is very active in to know if in the division
that is similar with the US in the genomics and medicine but
>> I hope you saw -- we saw the outback and I saw a lot of things but there was a time
to see any sites outside research institution. But I admit it very relaxed state just off
the airplane -- I spent away to -- for a few hours into pictures -- we took a few pictures
of Australia such as icons. >> That was worthy and a chart update -- we
move on to NIH update and out of respect I will start at the top. We start at the top
usually talk about awards. >> Frances [ Indiscernible ] will receive
a 2012 pro bono Humana know -- many an award from the [ Indiscernible ] foundation -- for
his exemplary efforts in improving human conditions of the foundation Board selected Frances as
this year's honorees for his bounding viewership. >> And the award will be presented at the
American Museum -- Museum of Natural History in October.
>> Sticking with the Frances theme, in June, Frances was featured on the cover of a popular
publication CQ weekly -- not to be confused with GQ magazine. [ Laughter ]
>> It was actually quite unusual anything quite good to have the NIH director probably
featured on the publication that gets considerable congressional attention. Interestingly they
may the rest of the article was to point out how Frances was discovered -- describing an
age -- not just as a powerful force in the war against disease but also in a debater
of new jobs and new products in short he is just as -- stressing over never get the role
of biomedical research can play in the US economy.
>> The article went on to report a Frances is stressing to Congress that the US is falling
behind other countries such as China and India what comes to medical research budget --" him
as saying the completion of the human genome project -- we have basically succeeded leadership
to other places and securely to China. >> Also worth highlighting is this editorial
that France is published in science during the summer the stresses his views about the
role of basic science and research enterprise. With much attention over the last couple years
focusing on NHS clinical research and therapeutic agenda develop and, some have -- basic research.
Of the senatorial Frances restated the strong commitment for the NIH basic science research
portfolio which actually continues to garner the majority of NHI research funds but
>> Among his many good points Frances reminded us in the editorial that Americans need to
know that today's basic research is the engine that powers tomorrow's therapeutic discoveries.
>> Moving onto other parts of an age and related to NIH, will soon be getting a new leader.
In November Dr. Marie Carrera to be coming to [ Indiscernible ] of an age. Who's currently
the present to of the division she is held since 2008. Marie is the director of the NIH
ticker transfer 2001 but she is also an internationally expert in commercialization as was a strong
champion for biomedical research. Many of us at NHI report working with her on the rivals
for the foundation. >> Also announced last week -- Dr. Gene Clayton
has been directed the new -- on oh are doing to -- Jeanine Clayton. And a new director
of the NAH office of research of one's health. Prior to this she has been the deputy director
of the office. >> A board-certified ophthalmologists whose
research interests includes immune diseases in the sexual gender [ Indiscernible ] Dr.
Clayton served as a deputy director as the national Institute prior that to come into
the office of women's health. >> F. great interest to any [ Indiscernible
] -- the search for a new director of the medical science and my GF is active again.
In fact the initial cutoff date for applications is October 1. [ Indiscernible ] Landis is
the director is cochairing the first committee. Now because of the important collaborative
opportunities to train NHI in an IDMS -- and I mean we all should be highly motivated to
identify an outstanding candidates for this leadership position. So please feel free to
send me any ideas for search committee that they should contact.
>> We haven't talked over one. And encourage people that unit it might be good candidates.
To please apply or ask questions to me directly if they have questions.
>> Wealthy of -- well three working groups to the and I were H. working group recently
completed their work delivery reports and recommendation's to the NIH director in June.
>> So Opera cases significant attention is being paid to the center directors in terms
of addressing the recommendations. I will tell you about each of these three reports.
The first of these is the data in informatics working group which challenges -- tackles
the challenges of the big date. That is the increasing computation all biology by a dramatic
informational sciences and so forth. >> This is obviously an area of great interest
to and HG RIN this Council. The report includes five recommendation's -- one to promote data
sharing is central catalogues to support the development implementation and evaluation
maintenance and dissemination of informatics methods and occasions. Build capacity by training
the works -- and sciences such as bio informatics, by a mathematics biostatistics and clinical
informatics and four develop in an age wide non-campus IT wide strategic plan can import
Lee five -- provide a serious substantial and sustained funding commitment to enable
recommendations went through four. >> So if you're interested in the full report
is available [ Indiscernible ] >> Mouse I mentioned previously, I and others
have an asked to take on significant leadership responsibilities with respect to have a trans-NIH
plan to address these recommendations and tackle the challenges and medical data but
this is now very active for us and I am sort certain there were be a report in terms of
the progress in trying to deal with the recommendations to develop a path forward on February Council
meeting and I will have more to say but that. >> In the second working group -- the biomedical
workgroup was charged with developing a model for sustainable and diverse US biomedical
research group workgroup -- second have it training for optical mom number of people
that will advance science and promote health. >> The overall purpose of the overall workgroup
is to ensure competition and recommendations for different stages of the crew path for
graduate students in -- science is supposed scientists and faculty. Recommendation still
with the length of training, skillsets, salary, economic and educational drivers, diversity,
which mainly address a different working groups outside but the minute and the coordination
of training information collection analysis and dissemination and advice for increasing
specific funding programs being supported by NIH.
>> Again the full report is available. >> And the third working group -- the working
group on by a Mars Wyoming serve [ Indiscernible - background noise ] Biomedical research workforce
in the 2011 publication if I get through it on race, ethnicity and NIH research awards
but which reported poor success rates for external up against for underrepresented groups
but the working group was charged about analyzing NAH external research immunity underrepresented
communities -- persons with disabilities and persons with does then it backgrounds and
the biomedical research workforce. >> They were asked to have 53 KeyPoint. In
the and the working groups gave it 13 recognitions to enhance diversity in the biomedical workforce.
Through the circulations for samples were 21 I dance data collection evaluation turning
a gram outcome, too to strengthen to mentor her career or potential programs and three
-- pilot intervention with outcome honoring. >> And again the full report of this is available
>> >> Moving on --
>> >> You may recall that over two years ago
and H. was blocked from funding any human embryonic stem cell research as result of
a state court case -- with the DAH secretary and an eight. The injunction against the set
embryonic stem cell research was founded favor of an age in generated as 11 and late August
of this year the court of repeals in favorite in the river -- in favor of gay just a rain
this case to close. >> Moving onto next year's appropriation,
in July, Senate and House leaders announced an agreement on it continuing resolution will
fund the government keep a running through March of next year.
>> Legislation will still need to be passed this month to make the handshake agreement
and reality. But therefore looks like they are going to not know until spring at the
earliest what NAH in the fiscal year 20,013 appropriation will be. And the final decision
will be made by the next Congress not the current one.
>> And the Appropriations Committee the working on legislation at allocating the 20 13th fun
for NAH a can shown in the table. In July the house labor subcommittee -- House committee
approved a bill that said the 20 13th fun they had $512 million.
>> One month earlier the Senate Appropriations Committee approved a bill setting up bonding
marginally higher at five and $13 million. >> But since the regular congressional appropriations
process will not the completed until the next Congress, it is unclear how too much hell
these bills would translate into final appropriations for NAH or NHI -- so with as expected with
pending election we have no idea what our funding will be for the fiscal year that starts
about three weeks. >> Speaking of Capitol Hill, on July 21, Frances
Colin testified before the House energy and Congress subcommittee on health and a hearing
called the national Institute of health and performs, priorities and progress. The oversight
hearing did not focus on a major issue of concern to the committee but rather touched
on a wide range of topics. These included the implication -- that [ Indiscernible ] and
the determination of an age funding and research funding priorities that
>> Moving on then to genomics updates. We will start with some awards -- an award -- an
NHI Richie -- will awarded the 20 12th MIT price for biomedical interventions, revolutionizing
human health. He is recognized for the intervention of the chips of them miniature pumps and valves
are complex fluid handling for genetics research. It is always fun to embarrass a Council member
so we will do that here -- any wire the councilmember and also an NHI grantee -- and Michael Bier
-- microbiota project grantee was recently named the new director of the alert College
medical -- medicine Center -- Amy has served on the property since 2004 and is a associate
director since 2009. And her research focuses on legal and illegal genomics research.
>> [ Indiscernible ] who is here to my right announcing in June that she will soon be leaving
the American Society of human genetics -- where she served as executive vice president since
2001. She chose to become the senior vice chancellor for academic affairs for the system
of Maryland. Now because of Joe's leadership at -- [ Indiscernible ] NHI has established
this at -- outstanding collaboration. Joe has also sure serve as the liaison for national
advisory Council for research for many years. ASG is advertising for her successor and app
applicants can submit -- submit their names and the deadline is September 15 but that
will change slides -- oval change slides and I personally thank Joe for the relationship
that we've had for the wonderful content traditions that we -- she is made we wish the very best
in her new position. >> Got Mac
>> [ Clapping ] >> As you may recall from the February may
Council meetings the presidential committee for the study of biological issues has been
considering bioethics issues raised by dances in human genome sequencing.
>> Access to individual privacy genetic with large-scale scale genetics freckle nations
regarding the issues are report -- due in October.
>> The commission has gathered information reports in rest for formations for survey
of federal agencies and the relevant statutes regulations guidance documents and policies.
The commission held a series of public meetings -- the most recent of which was held on August
1 and second with Dr. Laura Rodriguez with NHI presented on the behalf about other I've
seen methods to the data sharing activity. >> And the staff remains in contact with the
staff to serve as a resource and provide appropriate in program needed to the commission.
>> The lawsuit -- patent in off a bleaching patents altogether continues to move around
the court system with a new decision announced last month. As you may recall the case began
in 2001 nine with a new decision announced last month. As you may recall the case began
in 2000 191 several pathologists and breast cancers patients challenge the US patent and
trade Mark office in genetics and directors on the Directors foundation on the patentability
of related patents. >> Couple years ago federal District Court
rules in area claim that were not patent eligible in the decision with the Federal Circuit.
It was then appealed to the federal court however in March of this year the Supreme
Court as the Court of Appeals to reconsider the case in light of another long-standing
biomedical patent -- between Prometheus and male laboratory. The Court of Appeals is now
issued a new ruling coming to the same conclusions as before with Jordi founding the claims to
the [ Indiscernible ] still pal patent eligible. The case announcement to the appeal back to
the Supreme Court once again of legal men [ Indiscernible ] I'm not sure -- [ Indiscernible
] >> NHR I continues to feature genome.gov a
publication that was featured since a lot of Council meeting describing research and
directing genetic and epigenetic councils cancer cells and mitigation of DNA to form
useful shapes. Results of the micro [ Indiscernible ] project in [ Indiscernible ].
>> And is always is featured in many stories in the past four months. For example the press
really enjoyed them an energy known as you can see from the headlines but -- quote a
[ Indiscernible ] genome and those that he actually discovered several genomes it might
be involved in pest resistance. The scientist -- rare diseases both before and after [ Indiscernible
] the genomes. >> And the genetic variants in multiple sclerosis
names -- patients with a negative response to drugs used for automated these is that
>> Those stories were just warm-ups for its dividend amount of attention of recent months
I even today -- or example -- Gina [ Indiscernible ] diagnosed six in cancer. Part one I genetic
basis of the case of acute adult -- -- with the Kenya -- looking at -- they discovered
[ Indiscernible ] was in overdrive -- to spur the cancer's growth. As a result the patient
was part to the features for the describe the patient is a rear T-cell and from you
-- Livonia -- the results indicated that her cancer was driven a new drug approved for
Bell and, -- jurors the patient's cancer for a few weeks to go straight the power of this
for approach. Part three -- ocular melanoma but that's the stuff of the activity of genes
associated with the disease. The results of which they can respond well to treatment.
>> And last -- another piece of the New York Times who use human needs to to compare drugs
applicable to the cancer. Because of the shared evolutionary history they found that antifungal
drugs that affect cell wall growth in yeast in blood vessels in tumors.
>> So moving beyond X. to rural programs -- to start with the general sequencing program
to call the there are four components of the recently renewed sequencing program.
>> The large-scale analysis centers, centers for [ Indiscernible ] large projects and tools
for sequence data analysis. >> Each of these components will be discussed
further in the following slides with coding that for the first time participants in all
for components have a face-to-face meeting in addition to the housekeeping task we hope
this meeting will or sue shared goals and discuss common obstacles and engage directly
about the different scientific objectives. >> Starting out the sequencing and analysis
centers for cancer. Notably in February, the Obama administration announced new efforts
for Alzheimer's disease including making 50 -- an additional $50 million for cutting-edge
Alzheimer's disease research. >> Accounting for half of those funds -- the
largest cell genome sequencing and analysis centers program is in legs planning stages
for a genome sequencing project on a program on aging is in its grantees.
>> In the most recent quarter, three centers in this program 57 57 trillion bases of sequence
data. Also worth knowing are a number of applications emulating for the centers and Council meetings
in relating to cancer and reference development. >> And ongoing objects are focused on cancer
complex diseases, where diseases and comparative sequencing.
>> Specifically emphasizing cancer of course all these -- PGC eight which now has data
about bull on 22 different tumor types and major rubbish has been made with respect to
publishing the results. >> A paper reporting work to analyze Colorado
carcinoma -- and rectal carcinomas are in diseases with respect commonality.
>> Confirmation of the -- but singling in cancers is also reported as well as numerous
applications in the pathway genes which suggest potential therapeutic targets.
>> Batiste EGA papers on Colorado carcinoma was online yesterday. This reveals wild therapeutic
strategies often fail for squamous cell disease. A different sector was found to be mutated
with cell carcinomas for therapies targeting the regulators. I pointed out this morning
on the radio on the news this is one of the featured stories. In the talked about in the
New York Times article factors and are clicking much day with a reserved -- with results of
this. >> The drumbeat about good certain -- carcinoma
stories continue. >> The PCG a papers of breast cell person,
will be published and several other studies for carcinoma and acute leukemia -- this last
that he has been led by Council member Rick Wilson.
>> Legislation recently opened for the second annual PGC a scientist scientific symposium
held in November to seven the 28th versus city Virginia following the first such symposium
last November -- this symposium will talk about the ongoing -- PCG a data and hopeful
sessions in the opportunity to interact with investigators.
>> Also involving the three large and sequencing centers that needs and follows a large number
of people providing competent research on genetic duration. The thousand chinos project
is working on a method to identify various structural variants and integrating. These
new methods will be used to analyze the final data set of 2500 samples from 25 populations
which should be generated by December and then the analyze next year.
>> But meanwhile the phase 1 paper which characterizes the variation of the first samples of 14 populations
will be proposed in early November -- in time for the AFG a meeting.
>> Moving onto the next component of our sequencing program are three centers of media lens genomics
aim to discover the genetic basis of as many Delian disorders as possible. The program
is cofounded by an itch GRI and [ Indiscernible ] but
>> More than 100 and Delian diseases have been selected so far inappropriate samples
have been or are being sampled and sequencing analyzed by the free set -- presenter.
>> The number of disease genes have are to been identified with -- are in preparation.
>> The American Journal published the goals of this program that the commentary states
-- for Mendelian -- no cost to collaborators and investigators but it is yet to be covered.
>> The next few years incorporation with the human genetics -- the Center for human Mendelian
-- a very large fraction of all disorders. >> Took off as this joint samples solicitation
is taking place at all three centers, but it is coordinated through single well -- Web
portal at portal@tran1.org portal@tran1.org. >> And finally the Center for organizing educational
centers focusing on Mendelian genetics at 2012 meeting taking genetics at 2012 Meeting
Taking Place. in November. >> The clinical sequencing explosive -- exploratory
research projects will be expanding -- it is a strong response to the reissue program
in these applications will go to study section this fall and will be discussed at the February
council meeting. >> Recognizing the relevance of this area
for the instances MCI United drug abuse Institute has tentatively agreed for reports -- the
awards of the CSER Roger. >> And the court nation Center to assist both the CSER
consortium but also the return of [ Indiscernible ] results insertion. We trust this will have
important findings and best practices coming out of the two insertions.
>> In the fourth and final component of our sequencing program were called the new components
consisting of a network of grantees developing tools for data analysis. I see -- tools -- iSeqTools
network has that are stages of lifecycles of prototypes. This includes more robust software
with important new features, building user interfaces and engineering. Will also be the
status went of user support documentation outreach and community forms and portals.
This usual analysis tools we linked in workloads to simplify their use. Software will be reengineered
to be more efficient to do more with less memory but the cloud of virtual machines will
also be piloted. Stay tuned for more updates to this program at future Council meetings.
>> Well last week was an insanely good week for the contortion with a impressive glory
of publications in an avalanche of press coverage. Specifically encode was featured on the cover
and throughout the September 6 issue of nature including the contortions named paper and
also supplementary poster shown their. In addition there were 29 other encode papers
published last week. The nature of chinos -- Genome and biological chemistry. These
papers add to the greater 150 papers already published as a result of funding for the space
of the encode. >> Feature has developed for publishing innovations
for these encode publications -- these include one thread that connects binding by themes
across the various papers. To interactive features that allow researchers to click on
figures in the drill down to additional findings. Three -- virtual machines that allow competition
a scientist to give detailed journals and methods and of course before -- in Ipad app
-- how can we not have an app -- that includes all the pages of all the papers across the
different publishing houses and also all the above.
>> Congratulations to the entire encode consortium in the NHGRI staff for this these contradictions.
But it did not go unnoticed -- and shown here is just a sampling of the press coverage that
you can see in some high-profile press -- quite an impressive set of goals. I am only showing
for of about 40 of such articles that were written about in the last week.
>> The [ Indiscernible ] code project aims to have a variety of approaches to compete
to -- the [ Indiscernible ] that play a role of biological [ Indiscernible ] -- this is
the final year of the project. NHGRI Hedda special consortia and modern code accomplished
but after the symposium showcased findings of organisms to understanding by a fundamental
-- to fund by mineral coal pieces. >> Symposium was a great success and videos
and slides are available on the channel of YouTube.
>> In terms of problematic aspects they have now been launching the third phase of the
project. For this three and code -- were launched for high coast -- towards a catalogue that's
feasible but the awards for this next round will be me but in the September.
>> And finally propagation species analysis are being planned for the modern code's contortion
-- one set has human data in human and mouse data.
>> There is a strong response for specialized Center PC and exploratory Center -- the 20
application. With application received in July -- the current funds for 220 and applications.
They will then be discussed at the February council meeting.
>> The eighth annual investigators training workshop will be-year-old -- healthier literally
in this room here on October 15, the 17th panels discussions the research to policy
the evolution of transdisciplinary research. Trading activities and discussion of the creaking
legal intellectual property development. >> Over the past few months, NHGRI has issued
three issues worth highlighting. Projects are phase for study sites and coordinated
center which has a dated July 19. The population architecture using genomic in academia Allah
G. page phase 2 are phase studies say the coordinating center which I received a of
October 18. And the clinically relevant genetically research date of October 23. And finally she
gnomic sequencing and newborn screening disorders phase which is cosponsored by NHRA in an ace
-- has a date of number 19. >> Finally some NHR I meetings not mentioned
the meeting held in October and the 2012 meeting for and code in the common funding epidemics
on the -- joint outreach on November 9 to use the data resources to understand genetic
variation in human [ Indiscernible ]. >> In speaking of the fund common fund -- coming
project. Starting off with a library programs now in the fifth year of its production phase.
This is actually the AP or the program after all which represents the ultimate year. As
such the ramp down and funding has started in the network has been reduced to five centers.
A total of five comprehensive and specialized to Mr. bubbles remain funded at reduced levels
next year. The bio [ Indiscernible ] -- by is the tarmac and analysis of a broader community
is under development with multiple distribution. >> The school is scheduled for the spring.
>> And while the primary vision of probe development continues the network is planning for transition.
As the program and after year six of the production phase in a little after year but working with
bioassay center-based support and a corrugated effort is underway to find a legacy of the
program to a high-impact network publication. >> Moving onto human I'll might sure while
micro milestone similar to code with a flurry of publications in their case the substations
happen in June. >> Particular neighbor published today as
a consortium papers and featured it on their cover shown here. And at the same time 18
associated tapirs came out with an open access collection. Among the findings of problem
metabolic activity in the species of micro [ Indiscernible ] and healthy gut for examples
is always the population of healthy a carrier but not the same bacterial species carrying
out the function. >> Meanwhile several papers in the plus collection
for papers from the Baylor College of medicine had samples in the -- in St. Louis had children
would have explained fevers with it, problem under the age of three.
>> There is extensive amount of press coverage due once again to Africa once again is an
H. our eyes team covers are have multiple wire and dailies including the Boston Globe
and the New York Times and Washington Post. By multiple international outlets science
publications and business magazines as well as an appearance by me on the PBS news hour.
>> On twitter the hash tag micro bio reach 70,000 within hours of the news announcement.
I guess that is good. >> Meanwhile there was a latebreaking session
on micro bio society publications in June. >> The typing project to is in second stage
of the public resource continuing it a mouse gene -- to five years make and phenotype to
2500 live mouse strains from knockout ES cells in a hunt netted 11 Lane dollars in three
years. The mouse production and phenotype applications worldly funded.
>> The graph shown here shows the date of the earliest phase and generation of the mouse
strains itself following microinjection -- so the phenotype being kicks in later this year
so we will start tracking the goals of this component which are shown in pink in the near
future. >> The genotype tissue expression or project
was approved for scale up with money for the common fund and that approval came in me of
this year. So there will now be two half years of active enrollment with 2530 tissue samples
collected from each postmortem donor. With these additional funds it now -- by 2016 in
alternate resource and ball involving 900 postmortem donors with pathological information
will be fully phenotype. Expression levels will be -- 20,000 tissue samples collected.
These data are being released through quarterly TB Data releases. That will also provide access
to our fake early sample for 2014. And G. types also included out of study of the donor
family. >> The NIH protein capture held a teleconference
with an external scientific panel for program updates -- the NIH sought guidance for the
energy production center. Basin the feedback from this meeting we submitted a half million
dollars supplemental request for [ Indiscernible ] approved by the common fund pucks of the
three production centers continue to work collaboratively to exchange protocol ideas
for the best project -- possible project and anticipate that the additional funding for
the additional pipeline and affinity centers on course to achieve the production milestone.
>> Three production centers in February by external panel members to assess Congress.
>> Finally a website is now live on the common fund protein capture page with an outreach
effort for public comment on a priority list for human transcriptions for a removable infinity
agent. >> Now moving on to human health in Africa
project -- this program has been busy preparing for its official launch. The NIH and the Wellcome
trust towards were released in August. With those awards now announced there will be another
world meeting of the [ Indiscernible ] contortion in Ethiopia in October. The meeting will bring
together over 40 African scientists represent 40 countries. At the meeting we will have
the official pass announcement of the NIH and welcome trust towards. Also at that needing
presentation by a new grantee and a discussion about areas policies such as data release
consent. And lamenting the H3 a Biomet somatic network in the H3 Africa Bio repository.
>> Now that the program is underway, an independent expert committee has assembled to advise the
program. That new group will be comprised of scientific experts in the UK, for the United
States and from Africa. And will be cochaired by Barry Bloom as the are presented and K.
Davies as the Wellcome trust representative. [ Indiscernible ] and Carlos [ Indiscernible
] have also agreed to serve. >> Be Africa -- H3 Africa program for the
H3 offer cut I'll see program released in June and the collaborative centers research
project in repositories will be issued in August.
>> Getting to H3 Africa off the ground has not been a simple process about the tremendous
amount of work -- collective effort across many people across an H. with -- and a recent
ceremony Frances Collins and his people by giving an and H. tractors award in the area
of global health included a core team of individuals that have made each three Africa and reality.
>> Well in the last common fund program I want to tell you about is something I told
you all about the past that multiple tractors and the last few years I have spoken about
UDP. Founded by -- the trans-program has been highly successful and highly acclaimed.
>> The NIH and we are all research program for 2008 -- UDP aims to assist patients with
unknown disorders reach an accurate and diagnosis and also new diseases with an insight to pathology
and genetics. >> The project has referred -- in conditions
failing to have a diagnosis. With 5500 increase to date it is review 2300 medical records
and accepted about 500 patients for further studies. The definitive diagnosis has been
reached for 39 patients with her diseases and 60 new human genetic disorders have been
identified. So far the UDP has been a pilot program only through this fiscal year. And
after months of debating the long-term funding arrangement for this port and program, and
H. leadership has decided to move that into the common fund. Maxa starting in fiscal year
13, on other words in October 1 of this year the UDP will be common fund program.
>> Not surprisingly they have been asked to place a role -- administratively and problematically up until
now. So I have been designated -- along with [ Indiscernible ] Landis and Steve [ Indiscernible
] from the office where diseases research. >> In its new configuration Bill Gaul was
continuing to lead an intramural effort -- in fact that program will play a pivotal role
to create national UDP roll with extramural sites building on a foundation in the intramural
date. >> In creating such a network and data access
-- improved and expanded and will be plans for training and fellowship for grams per
where disease diagnostics. -- Active request for information to solicit information support
an expanding UDP program and then another in another gram to gain input on these exciting
new plan. >> So that's what I want to tell you about
common funds -- which is now onto the office of Director. onto the office of Director.
But to no mics -- lecture series collaboration between of Hospital in Bethesda and Johns
Hopkins University has now been a success and extend it to turn 2013. Each presentation
is a grant round style covering topics and genomic medicine. Dr. Jean Potter money is
leaving program and the talks occur the first Friday of each month with the first one -- next
one being given by Max Luke on November 2. >> Shown here some of the additional speakers
for future talks into 2013. >> And portly for those not local all of these
talks will be the dictator made available in the TV channel YouTube.
>> Last month and HGR I held you are shopping to no mics otherwise known at the short course.
This year's participants include 28 biologically -- the re-doctorate students from two and
four year colleges. Participants came from diverse universities and colleges across the
country. As always the lectures were provided by researchers and staff from across NHGRI
Major effort was -- given -- for -- in factory had the opportunity to learn more about the
G2 G2 research which I would say about a minute. Graduate students graduate -- participated
in the summer internship per gram and met with the research faculty and biology property
purchase updated in a island for max 11 course offered by the NIH Library.
>> In June, NHGRI posted a follow-up meeting to the November 2011 meeting of stakeholders
and pharmacists education. The June meeting was designed specifically address the potential
use of NHGRI competency Center G2 CTU by pharmacy centers interest interested in advancing genomics.
>> Professionals from organizations. The commitment for this GCT Secretary -- GC the two -- G2C2
-- to provide competencies for establishing competencies in the accreditation process
for school the pharmacies which will undergo an update in 2013.
>> Gina Jacobs will be taken over for rape leadership going forward.
>> Speaking of great bureau, in June, Greg Pharaoh cochaired an Institute of medicine
and genomic medicine roundtable meeting on assessing the economics of genomic medicine.
>> Specifically the meeting explored the economics of integrating clinical care. This event was
a sequel to a 2011 IOM meeting that explored the full spectrum of issues basing genomic
data care. >> Spent time in a patient's life to say how
Jacobs see no data that >> Perspective to the data and the researcher
and the patient will discuss have having sequence information that healthcare -- affect health
care. >> In the end several major yes -- -- personal
utility -- the large more robust outcomes research for modeling economic scenario. The
proceedings will be published over the next few months.
>> Another meeting in June -- there was a meeting to get input for genetic competency
nursing group. The aim of this group was to gather evidence to have evidence of practice
make a difference in patient outcome. The meeting concluded -- there was minimal such
evidence of the recommendations to guide nursing research were drafted in posted for public
comment. These comments are now in the next that includes a joint meeting with the leadership
of the national Institute of nursing research. The final reparations of 2013. And the research
in this area. >> NHGRI recently launched a database which
is a publicly available resource. NHGRI databases and easily searchable database concerning
-- downloadable graphic files related to the field of genomics research and activities
of NHGRI but these images are in the public domain so if you want to facilitate the use
of you by the community we develop this database and it is freely available.
>> So we welcome you to poke around in the sites and use images and videos and so forth
and provide feedback about the database. >> Finally -- you will be hearing more about
this later -- another big media blitz -- a lot of interesting publicity -- -- what guarded
the most media attention related to a paper published in science transition -- transitional
-- medicine. In the NIH sequencing Center track a series of outbreaks of antibiotic
resistance [ Indiscernible ] in the NIH clinical Center shown in the photograph. For the bacterium
your infections in the clinical Center leading to the practices in such an outbreak. This
is a fabless example into gnomic activities in improving the practice of medicine which
is why literally dozens and dozens of new stories reported the findings.
>> Other recent -- -- for human data base and -- patience equal and cancer susceptibility
genes. Pam shorts were just group published a paper reporting the mouth model in lithium
protein can disrupt protein in cells. The findings explain why some patients can account
or a fatal immune response to it by her. >> In a collaboration at the instant the edition
student health there was a paper in result of six-year study explaining how people with
alterations in the brain -- are more likely to develop purposes disease.
>> And finally I told you there always highlights on the untied these -- you can go for months
without something major -- 60 minutes aired a story about the UDP. Correspondent Lara
Logan interviewed Dr. Camillo Tauro in a piece called hard case which was filmed entirely
at the NIH clinical. >> And without I of course want to thank as
always the -- to help pull together the slides of information so I could report it to you
but it also thinks to Larry Thompson, Judy White and all the rest of the NIH web team
who are doing also to things to get this report out and available and videotaped it available
as early public resources well. >> I will stop there and I'm happy to take
any questions. >> Questions.
>>[ Indiscernible audience question or comment ]
>> What about me. >>[ Indiscernible audience question or comment
] >> I don't know but good question.
>> So we have one more thing to announce if we can get it out quickly.
>>[ Pause ] >> Eric was willing to embarrass councilmembers
or two -- we are willing to embarrass Eric just to add to the directors report that Eric
in July -- Eric was awarded the 2000 -- Eric was awarded the 2012 Wallace lecture or by
the Americas Association of clinical [ Indiscernible ] -- this award recognizes outstanding individuals
who have demonstrated a lifetime commitment to and made important graduations that have
a significant to research and laboratory medicine and care.
>> And want to congratulate Eric. >> [ Clapping ]
>>[ Indiscernible - muffled speaker ] >> So Eric -- just a technical question -- that
workshop in November 9 -- on November -- on November 9 what [ Indiscernible - muffled
speaker ] Is that similar to the one way you pair up the -- it's not the same thing --
>> You are thinking about when you had and code participants paired up -- with investigators
-- [ Indiscernible - multiple speakers ] My understanding is that this is a tutorial style
workshop with typical ASG eight attendees to teach them how to use the resources of
and code and the common fund effort to gnomic project data. And that really just -- I did
not think that's what was -- but he going to do something like that pairing or gathering
-- has that been discussed -- I just don't remember hearing about it.
>> So the first question -- but to Tauro will be classroom style. There will be some practical
going through how to access data, how to use the data. But primarily lectures for people.
Do we have a plan for a follow-up I Geneva -- we don't have a plan at this time. But
we think that is really successful -- to the looking at those opportunities.
>> Or looking for ways to get people to use more -- and expand beyond Geneva I think that
was the -- the pairing up with Geneva was a specific [ Indiscernible ] presented itself
rather than -- [ Indiscernible - low volume ] Most important -- [ Indiscernible - low
volume ] >> I just went to ask a question as part of
the common fund and also the undiagnosed diseases program on the current status of clinical
Center and how things are going -- [ Indiscernible - low volume ] In terms of acting as a hospital
and its utilization of funding, etc. its utilization of funding, etc.
>> So I think it is a great question. And I would be happy to take a stab at it -- but
knowing that Dan Caster is being here at four o'clock and we'll be talking about the clinical
Center -- and as you well know is the sort of not only a champion but had has made his
career on the clinical Center he will give a far more answer -- better answer and it
is part of his -- I can just find it but he should do it.
>> Anything else -- general questions. Cometh. >> Okay. So we are going to sneak one more
thing in your before lunch. As you will recall, we form working groups of the Council in areas
that we want additional input about. And so I forgot the exact dates -- but a year or
two ago we created a new workgroup into gnomic medicine and we did this specifically with
the new thrust of strategic plan and we reckon I said area something where going to be involved
in and we wanted to have additional activity that would lead to input to us. And so a formal
working group of the Council was created. And we have heard about it -- you have heard
from -- but now you hear an actual update about the activities of that working group
-- and that will be a tagteam event that we are great to start and at some point in the
middle this presentation will hand out to Teri Manolio .
>>[ Pause ] >>[ Indiscernible - muffled speaker ] Very
hard for me to stand one place while giving a talk. So what