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WELL, GOOD MORNING EVERYONE, LET ME REMIND YOU THAT THE
OPEN SESSION MUCH THE COUNCIL MEETING IS WEBCAST LIVE AS WE
NOW WEBCAST ALL OF OUR COUNCIL MEETINGS, OPEN
SESSIONS AND IN ADDITION WE'RE CREATING A PERMANENT
VIDEO ARCHIVE OF THESE OPEN SESSIONS AND MAKING AVAILABLE
ON THE WEB, SORT OF A PERMANENT HISTORIC MATERIAL
AND THAT INCLUDES BOTH VIDEO PRESENTATION WELL AS VARIOUS
DOCUMENTS THAT ARE ASSOCIATED WITH INCLUDING THE
PRESENTATION THEMSELVES, IN PARTICULAR FOR NEW COUNCIL
MEMBERS, THEN I POINT THIS OUT, SPECIALLY TO AMY ASK JIM
WHO ARE SEEING THIS FOR THE FIRST TIME BUT ALSO FOR ANY
WEB VIEWER WHO IS ARE WATCHING OUR COUNCIL
PROPROCEEDINGS, WANT THE TO MAKE YOU AWARE OF THIS
ELECTRONIC RESOURCE THAT WE HAVE ASSOCIATED WITH MY
DIRECTORS REPORT. SORT OF ANALOGOUS, TO
MATERIALS MADE AVAILABLE WITH PUBLISHED PAPER AND IT COULD
BE ACCESSED AT THIS CONCONVENIENT URL LISTED AT
BOTTOM OF THE SLIDE. SO THE SLIDES THAT I'M
SHOWING DURING MY DIRECTORS REPORT ARE ALSO MADE
AVAILABLE AT THE SITE, EITHER AS A PDF FILE OR AS THE
ACTUAL NATIVE POWER POINT FILE AND FOR SLIDES THAT ARE
ASSOCIATED WITH SPECIFIC DOCUMENTS OR RELEVANT WEB
SITES THERE'S A DOCUMENT NUMBER SHOWN ON THE BOTTOM
RIGHT OF THE SLIDE AND THAT INDICATES WHERE THE REFERENCE
MATERIALS FOR THAT SLIDE CAN BE ACCESSED FROM THIS TABLE
SHOWN ON THE SLIDE HERE. ON THE VIDEO ARCHIVE, I
MENTIONED ALL THE WEB LINKS, ALL THESE LINK DOCUMENTS ALL
THESE WILL BE AVAILABLE FOR TO YOU USE OR TO POINT PEOPLE
TO FOREVER, AS FAR AS WE'RE CONCERNED BECAUSE WE'RE
ARCHIVING THIS. SO THAT'S??THAT'S THE
LOGISTICS ASSOCIATED WITH MY DIRECTORS REPORT.
LET ME REMIND WHAT YOU WE'RE DOING DURING THE OPEN
SESSION, THERE WILL BE MULTIPLE OTHER PRESENTATIONS
DURING THE OPEN SESSION, AND MY DIRECTORS REPORT IS
TAYLORED AROUND THESE PRESENTATIONS SO I WON'T
DISCUSS IN MUCH DETAIL, IN GREATER DETAIL BY OTHERS,
JEFF IS GOING TO GIVE AN OP DATE ON DNA SEQUENCING
TECHNOLOGIES OF CIRCUIT 2012. KAREN ROTHEN BERG WHO IS
SPECIALTY ADVISOR TO ME UNIVERSITY OF MARYLAND LAW
SCHOOL WILL GIVE A TALK ON GENOMIC SOCIETY OF THE
RESEARCH PROGRAM AND BEYOND AND THEN AS I MENTIONED
EARLIER MARK GUYER THAT WILL BE DEFERRED UNTIL THE MAY
COUNCIL MEETING. WE ALSO HAVE A SERIES OF
CONCEPT CLEARANCES IN ADDITION TO THE TALK, YOU'LL
HEAR CONCEPT CLEARANCES ON PAGE RENEWAL, CLINICAL
EXPLORATORY SEQUENCING COORDINATE ARE CENTER AND
GENOMIC MEDICINE PILOT PROJECTS IN ADDITION,
CLINICAL ACTION, RESEARCH AND HIGH?THROUGH PUT GENOMIC
ANALYSIS AND CHILDREN IN WITH NEWBORN SCREENING DISORDERS.
WE WILL LIKELY CHANGE THE ORDER FOR VARIOUS REASONS BUT
TELL BE SEEM ABS WHEN WE GET TO THOSE.
FINALLY THERE'S BEEN MULTIPLE NHGRI SPONSORED MEETINGS HELD
SINCE THE LAST COUNCIL MEETING FOR EXAMPLE, A
MEETING IN DENATIONAL LIBRARY OF MEDICINIC LITACY WILL BE
SUMMARIZE??LITERACY WILL BE SUMMARIZED AND THEN OTHER
ADDITIONAL MEETINGS THEY WON'T SAY ANYTHING ABOUT
BECAUSE OR VERY LITTLE ABOUT BECAUSE THEY'LL BE DISCUSSED
WITHIN THE CONTEXT OF THE CONCEPT CHARACTER.
SO, FOR THE REST OF MY DIRECTORS REPORT, I WILL BE
COVERING THESE 7 AREAS WHICH THE 7 AREAS I TALK ABOUT EACH
TIME AND I THINK THERE'S A GREAT FRAMEWORK FOR GETTING
THROUGH ALL OF THE THINGS WE WANT TO UPDATE YOU ABOUT
THIS, OUR LAST COUNCIL MEETING STARTING WITH GENERAL
NHGRI UPDATES. I WOULD START OFF BY TELLING
YOU THAT THE MOST SUBSTANTIVE OVERARCHING THING ABOUT NHGRI
IS THAT WE MOVED FORWARD IN PROPOSING CHANGES TO OUR
ORGANIZATIONAL STRUCTURE AND SHOWN HERE IS THE WEB SITE
DESCRIBING THE DETAILBOTH OUR PROPOSED CHANGEs AS WELL AS
PROCESS WE'RE FOLLOWING IN PROPOSING THIS
REORGANIZATION. THE LATTER INVOLVES HOLDING
PUBLIC MEETINGS TO PROVIDE A FORMER FEEDBACK ABOUT
PROPOSED CHANGES AND THE SECOND OF 2 SUCH PUBLIC
MEETINGS WILL BE HELDA HELD AT 1:00 P.M. TODAY AS PART OF
THE OPEN SESSION COUNCIL MEETING AND FOR THAT REASON
I'LL NOT DISCUSS THE REORGANIZATION AT THIS TIME,
I'LL DEFER IT UNTIL MY PRESENTATION AT 1:00 O'CLOCK.
AT THIS PAST FOUL, THE AMERICAN SOCIETY OF HUMAN
GENETICS JOINT MEETING ORGANIZED 2 VERY SUCCESSFUL
SESSIONS. 1 WAS INVITE INDEED LARGE
SCALE AND INTERNATIONAL RESEARCH COLLABORATION THAT
WAS MODRIGHTED BY STAFF MEMBER JEAN Mc CUEN AND
POLARIZEDAR ROSARIO, THEY CAME TO DISCUSS GENERAL
ISSUES AND UNIQUE PERSPECTIVE.
THESE ARE ARISING FOREAND MORE FREQUENTLY FOR RESOURCE
PROG EBLGHTS THAT THAN INVOLVE PLANS FOR BROAD DATA
RELIEF AND SITUATIONS WHERE DIFFERENT CULTURAL VALUES AND
FORMS AND DIFFERENT LEGAL AND REGULATORY REQUIREMENTS HAVE
TO BE RECONCILED. THE SECOND SESSION THAT NHGRI
WAS INVOLVED IN ORGANIZING WAS A TUTORIAL ON USING 1000
GENOMES PROJECT DATA, THIS GATHERING WAS ATTENDED BIDE
OVER 3000 PEOPLE AND IMPORTANTLY WE WERE THERE
VIDEOTAPING THAT AND THAT'S BEEN DOWNLOADED 350 TIME FROM
OUR WEB SITE IN A URL YOU CAN ACCESS THE DOCUMENT TO.
SINCE LAST COUNCIL MEETING WAS INVITED COMMENTARY AND
MYSELF, WHERE WE CO AUTHOR A PIECE THAT DESCRIBED CLINICAL
GENOMIC ADVANCES, AND THIS IS FOR WRITING SOMETHING ABOUT
THE NEAR TERM CLINICAL APPLICATIONS OF GENOMICS THAT
PROVIDED MORE DETHEY'LL THAN WHAT WE DESCRIBED IN OUR
STATE REGULATOR STRATEGIC PLAN IN FIDUCIARY AND NATURE
AND THIS IS THE??TAB AND YOU ARE THIS IS THE PIECE THAT
CAME ABOUT FROM THAT INVITATION.
AND ON THE LIGHTER SIDE, BUT IMPORTANT THOSE WHO THINK THE
STAFF MEMBERS ARE ONLY GOOD AT GENOMICS I WILL POINT OUT
TO YOU THAT LONG TIME NHGRIER BETTY GRAHAM IS A COMPETITIVE
FENCER, SHE TRAVELED TO CROATIA, AND SHE WAS COMPETED
IN THE VETERAN WORLD FENCING AND SHE CAME HOME WITH A
BRONZE MEDAL IN HER CLASS. THERE'S MORE, IF MY SOURCES
ARE CORRECT, BETTY IS THE CURRENT U.S. VETERAN NATIONAL
CHAMPION IN BOTH FOIL AND EPI, AND THE 2011 VETERAN
CHAMPIONSHIPS IS THE NINTH IN WHICH SHE REPRESENTED THE
UNITED STATES. SO MY FIRST THING IS
CONGRATULATIONS ZORRO, I MEAN CONGRATULATIONS BETTY AND IT
ALL APPEALS FOR GRANTS. NOW WE'LL GO DIRECTLY TO
BETTY WITH A SWORD IN HER HAND.
[LAUGHTER] OKAY.
I WANT TO TELL YOU ABOUT NHGRI, NOW MOVE O GBA??MOVING
ON TO NHGRI. SPEAKING OF SWASH BUCKLING,
THE RECENT NEWS WAS THE CREATION OF A NEW NIHC, THE
ADVANCING OF TRANSLATION SCIENCES, NCATS, NCRR WAS
DISSOLVED AND NCATS WAS ESTABLISHED AND IT NOW HAS A
BUDGET THIS 5ICAL YEAR OF 557 MILLION DOLLARS.
ADDITIONAL DETAIL, TOM INSEL, THE DIRECTOR THE NIH AND THE
ACTING DEPUTY DIRECTORS OF NCATS, IS CATHY HUDSON WHO
WAS THE DEPUTY DIRECTOR FOR OUTREACH AND POLICY, NOTE
THAT THE SEARCH FOR PERMANENT END CAP DIRECTOR IS VERY
ACTIVE, I CAN TELL YOU IT'S VERY ACTIVE BECAUSE I ALONG
WITH TOM ENSEL ARE THE CO CHAIRS OF THAT RESEARCH
COMMITTEE AND WE ARE AT AN ADVANCED STAGE OF IDEBTIFYING
CANDIDATES HELPING FRANCIS COLLINS IDENTIFY THE FOUNDING
DIRECTOR FOR THIS NEW CENTER. NOW THERE ARE MANY COMPONENTS
THAT ARE HOWESED AND NOTABLE 1S INCLUDE THE CLINICAL AND
TRANSLATIONAL SCIENCE AWARD, CURES ACCELERATION NETWORK,
NEWLY HEADED BY CHRIS LENSER, THEY GROW UP AND OPERATED FOR
NHGRI FOR ALMOST A DECADE AND WITH THE CREATION OF NCATS,
MORE THAN A HUNDRED EMPLOYEES ALL UNDER CRIST AUSTIN'S
LEADERSHIP DEPARTED OF OUR INSTITUTE IN BLOCK AS PART OF
THE CREATION OF NCATS. AND SO THIS IS HAS HAD AN
IMPORTANT IMPACT ON OUR INSTITUTE AS WELL, BUT IT'S
VERY EXCITING TO SEE THIS NEW CENTER FINALLY FORMED AND NOW
GETTING OPERATION. NOW IN ADDITION TO THE NCRRIS
PROGRAM THAT WENT TO NCATS, OTHER COMPOSSIBLIENTS WERE
ASSIGNED TO OTHER NIH EITHER TO THE NIH OFFS OF THE
DIRECTOR OR 1 OF 5 DIFFERENT INSTITUTES AND I LIST THEM
THERE AND IT'S A FAIRLY LENGTHY LIST OF SUCH
NCRR ELEMENTS AND WHERE THEY ARE RELOCATED AND IF YOU'RE
INTERESTED IN SEEING THAT THAT'S ON A WEB SITE THAT'S
LINKED TO DOCUMENT NUMBER 5. AS I MENTIONED PREVIOUSLY AND
IN VERY MUCH A CONTINUED QUIRE RELATED TO E
ORGANIZATION, THE NIH FNRB, SPECIFICALLY THE NATIONAL
INSTITUTE ON DRUG ABUSE OR NIDA, OR NATIONAL INSTITUTE
ON ALCOHOL ABUSE AND ALCOHOLISM KNOWN AS NIAAA.
AS WE COME TO LEARN, ABOLISHING OR CREATING OR
REORGANIZING NIH INSTITUTES OR CENTER SYSTEM A LONG
COMPLEX PROCESS, SO LAST WEEK NIH ISSUED A REQUEST FOR
INFORMATION SPEAKING INPUT INTO THE SCIENTIFIC STRATEGIC
PLAN FOR THE PROPOSED NEW MERGED INSTITUTE WHICH HAS
PRELIMINAR ARRHYTHMIALY BEEN NAME AND SO IF YOU HAVE
ANYTHING YOU WANT TO PROVIDE ABOUT THAT, THAT INPUT IS DUE
AT THE SITE ON DOCUMENT SIXTH DATED 11th.
I WANT TO BRING IT TO YOUR ATTENTION NOW.
ALSO AT NIH, THERE WAS A JOINT INDUSTRY WORKSHOP THIS
PAST NOVEMBER. NOW THISSA GATHERING
INCLUDED??THIS GATHERING INCLUDED HIGH LEVEL OFFICIALS
FROM THE PHARMACEUTICAL COMPANY WITH THE GOAL OF
EXPLORING SCIENTIFIC OPPORTUNITIES I WILL YOU WITH
EMPHASIS TO IMPROVE SUITABLE PACKETS FOR DRUG DEVELOPMENT.
THE EXECUTIVE SUMMARY OF THAT WORKSHOP IS AVAILABLE IN
DOCUMENT 7. NOT SURPRISINGLY, NHGRI HAS
BEEN ASKED TO HELP WITH THESE AREAS IN THE FUTURE SO FOR
EXAMPLE, I AM NOW SERVING ON AN OVERARCHING STEERING
COMMITTEE WITH PHARMACEUTICAL REPRESENTATIVE AND OTHER NIH
REPRESENTATIVE FOR ALL THE EFFORTS THEY'RE BEING
PACKAGED UNDER THE GENERAL AREA OF TARGET VALIDATION,
TERRY MANOLEY WILL BE CO LEADING AN NIH INDUSTRY
ACADEMIA WORKING GROUP TO EXPLORE POSSIBLE GENOMICS
ORIENTED PROJECT THAT WOULD MOVE FROM GENOTYPE TO
GENOTYPE AND PURSUIT OF IDENTIFYING VALIDATING SUCH
TARGETS AND I'LL ALSO TELL YOU THE NHGRI AS BEEN ASKED
TO ORGANIZE 2 WORKSHOPS THAT ARE RELEVANT TO THESE
EFFORTS, 1 ON THE NOTION OF GENOME SEQUENCE DATA IN THE
FASHION FOCUSED ON ACCELERATE AND 1 ON EXPLORING THE MERITS
OF USING DIFFERENT TYPES OF COHORTS IN GENOME SEQUENCING
PROJECTS. OBVIOUSLY BOTH OF THESE
WORKSHOPS ARE RELEVANT TO THINGS WE'RE INTERESTED IN
BUT ALSO FEED INTO THE KINDS OF DELIBERATIONS GOING ON
AROUND THE STRATEGIC PLANNING IN TARGET VALIDATION AND IT
WILL SERVE BOTH PERP PURPOSES.
WELL MOVE O GBA ANOTHER CRITICAL AREA OF NIH NEWS
RELATES TO THE BUDGET SITUATION SO FOR THIS WE TRY
TO FIND HUMOR WHERE WE CAN ALTHOUGH THERE ISN'T MUCH
FUNNY ABOUT THE CURRENT SITUATION, BUT LET ME TELL
YOU WHERE WE ARE RECALL WHEN WE LAST MET, CONGRESS WAS
DEBAITING THE??DEBATING THE FUNDING AGENCIES FOR 2012 AND
NHGRI'S BUDGET WAS UNCLEAR. CONGRESS WAS ABLE TO COMPLETE
THIS BUDGETING PROCESS BEFORE THE HOLIDAYS WITH THE PASSAGE
OF THE MEGABUS BILL CONTAINING FUNDING FOR MOST
OF THE FEDERAL GOVERNMENT AND WE NOW KNOW NHGRI'S BUDGET
UNTIL THE END OF SEPTEMBER OF THIS YEAR.
SPECIFICALLY RECALL THAT THE PRESIDENT HAD REQUESTED AN
INCREASE OF NHGRI'S BUDGET TO 525 MILLION IN FISCAL 2012 UP
FROM 511 MILLION IN FISCAL YEAR 2011.
THIS WAS THE FIGURE OF A BILL INTRODUCED IN THE HOUSE WHILE
A SENATE BILL PASSED BY THE APPROPRIATION COMMITTEE HAD
NHGRI GETTING A 5 MILLION DOLLAR DECREASE IN OUR
BUDGET. WHEN ALL THE DUST SETTLED WE
ENDED UP IN BETWEEN, A SLIGHT YEAR INCREASE OVER 20 LEAVE,
A TOTAL OF 513 MILLION OR JUST AN INCREASE OF .3%.
SO WE END UP BEING FLAT WITH RESPECT TO LAST YEAR, SADLY,
FLAT BECOMES THE NEW FEEL GOOD BUDGET, RECALIBRATING
YOUR EXPECTATIONS SUCH THAT YOU ARE HAPPY TO HAVE DODGED
THE BULLET OF A SERIOUS BUDGET CUT BUT THE NEXT
UNCERTAINTY IS THE FISCAL YEAR 2013 BUDGET WHICH WILL
BE PROPOSED AND DEBATED WITH THE BACKDROP OF AN ELECTION
YEAR, THIS IS FURTHER COMPLICATED BY THE RECENT
FAILURE TO REACH A DEAL FOR DEFICIT REDUCTION.
SO RECALL THE CREATION OF THE SUPER COMMITTEE, AS PART OF
THE BUDGET CONTROL ACT, A LAW THAT WAS PASSED LAST REAR TO
LIMIT GOVERNMENT SPENDING OVER THE NEXT DECADE AND THE
CHARGE TO THE SUPER COMMITTEE WAS BY NOVEMBER 23, THE PAST
NOVEMBER 23, TO IDENTIFY WAYS TO REDUCE THE DEFICIT BY
$1.2 TRILLION OVER THE NEXT DECADE.
WELL, THE SUPER COMMITTEE WAS NOT SUCCESSFUL.
FAILURE OF THE SUPER COMMITTEE TRIGGERS AN 8 TO 9%
REDUCTION STARTING NEXT JANUARY 2, BUT ACTUALLY
RETROACTIVE TO OCTOBER 1 OF THIS YEAR.
?? >> [INDISCERNIBLE].
>> ??BOTH. ALL FEDERAL, NONMILITARY BUT
IT'S ABSOLUTELY NIH. WHILE SEEMINGLY UNTHINKABLE
WE CANNOT IGNORE DWEFFING WHAT??OF DEVELOPING WHAT?IF
SCENARIOS BUT THE OVER ALL BUDGETING PROCESS MUST STILL
MARCH FORWARD SO TODAY IS A SIGNIFICANT DAY IN THAT, THAT
THE PRESIDENT WILL ACTUALLY DELIVER HIS SPEECH FOR
CONGRESS, WHICH WILL INCLUDE THE BUDGET FOR NIH AND NHGRI,
AND STORIES HAVE COME OUT TODAY IN THE RELEASE OF HIM
AND THE BUDGET. LATER TODAY I CAN SAY MORE
AND I WILL ONCE THE PRESIDENT MADE HIS ANNOUNCEMENT I'LL BE
ABLE TO TELL YOU WHAT THE PRESIDENT'S BUDGET IS FOR
2013, BUT RECOGNIZE THIS IS TAKING PLACE IN THE CONTEXT
OF AN ELECTION YEAR UNDER CONCERNS ABOUT THE AUTOMATIC
SEQUESTRATION, 8 TO 9%. IT'S A COMP COMPLICATED
CIRCUMSTANCE THAT WE WILL BE LIVE NOTHING OVER THE NEXT
YEAR OR SO OR AT LEAST 11 MONTHS.
OTHER NEWS AT THE NIH LEVEL, IN JANUARY OF 2011, PRESIDENT
OBOMA SIGNED THE NATIONAL ALZHEIMERS ACT WHICH CALLED
FOR AGGRESSIVE AND COORDINATED ALZHEIMER DISEASE
PLAN. AS PART OF THAT PLAN, DHHS
SECRETARY SEBELIUS ANNOUNCED LAST WEEK THAT NIH WOULD MAKE
AVAILABLE 50 MILLION DOLLAR IN FISCAL YEAR 2012 AND 80
MILLION IN 2013 THIS, IS ADDITIONAL MONEY BEYOND
WHAT'S SPENT ON ALZHEIMERS. NOW THIS WILL INCLUDE GENOMIC
IDENTIFIERS FOR THE RISKS FOR THE DEC AND IT IS LIKELY THAT
NHGRI WILL BE INVOLVED IN THIS RESEARCH AND THE DETAILS
ARE ACTIVELY WORKED OUT AND WE WILL UNDOUBTLY HAVE MORE
TO REPORT ABOUT THIS AT THE MAY COUNCIL MEETING.
MOVING TO HOON??HONORS. A HUGE AWARD WAS AWARDED LAST
YEAR, LARGELY RECORDED AS A HANKER AWARD, IT WAS FOR
TRANSFORMING INNOVATIVE THERAPY AND PROVIDED HIGH
QUALITY CARE TO NUMEROUS PATIENTS.
IN NOVEMBER SECRETARY OF STATE HILLARY CLINTON
DEVELOPED NIH AND CALLED FOR RENEWED PUSH FOR AN AGE?FREE
GENERATION, THE SPEECH MARKED THE 30th YEAR IN THE FIGHT FOR
***/AIDS AND KICKED OFF WORLDS AIDS DAY ACTIVITIES
AND AIDS 2012 WHICH WILL BE HELD IN WASHINGTON D. C. NEXT
JUNE. ALSO AT THE NIH LEVEL,
RECOGNIZING THE PERVASIVE BOTTLE NECK AND CHALLENGES
RELATED TO BIG DATA AND INFORMATICS AND AREAS OF OF
INTEREST TO THIS COUNCIL AND OF INTEREST TO THE DOE
GENOMIC NATIONAL LIBRARY OF MEDICINICS COMMUNITY, FRANCIS
COLLINS ESTABLISHED A NEW WORKS GROUP OF HIS ADVISORY
COMMITTEE TO THE DIRECTOR. THIS WORKING GROUP AIMS TO
INVESTIGATE THE MANAGEMENT INTEGRATION AND ANALYSIS BY
LARGE BIOMEDICAL DATA SET AND THE NIH DATA AND INFORMATICS
WORKING GROUP AND THE GROUP IS CO CHAIRED BY DAVID OF
UNIVERSITY OF WISCONSIN ANDULARY TABAK, NIH DEPUTY
DIRECTOR AND CLUEDS OTHERS. NEW WORKING DUES ARE EXPECTED
THIS SUMMER, THERE'S AN INTERNAL WORKING GROUP TO
TAKE THE RECOMMENDATIONS FORWARD IN THE AREA OF DATA,
GENOMICS DATA PREDOMINANTLY AND OTHER NIH GROUPS WILL
DEAL WITH OTHER AREAS SUCH AS PHENOTYPE DATA, OTHER DATA
THEY'RE ALSO CONSIDERED SO THIS ADVISORY??THIS WORKING
GROUP OF THE ADVISORY DIRECTOR WILL WIND DOWN BY
SUMMER AND WILL BE A GROUP THAT WILL PICK UP AND MOVE
BEYOND THAT AND INSTITUTE AND GMS WILL BE CO LEAD TAG
INTERNAL GROUP. NOW AS PART OF THEIR
DELIBERATION, THE NIH DATA AND INFORMATICS WORKING GROUP
ISSUED A REQUEST FOR INFORMATION AND ANOTHER 1 OF
THESE RFAIs TO SOPHISTICATED LISTS INPUT FROM THE
COMMUNITY ON A BROAD TOPIC OF ELEMENTS COMPLEX TO THIS
AREA, AND SUBSET IS LISTED HERE AND SUBTOPICS THAT BE
FOUND IN THE RFI ITSELF AND A LINK THAT IS AVAILABLE ON
DOCUMENT 12 AND I BRING THIS TO YOUR ATTENTION BECAUSE THE
RFI WILL ACCEPT PUBLIC COMMENTS THROUGH MARCH 12 OF
2012, MARCH 12th, IT'S WHEN MY SON WILL TURN 16 AND MY LIFE
WILL NEVER BE THE SAME BUT THAT'S BESIDE THE POINT BUT
PLEASE SHARE THIS LINK WITH THE COLLEAGUE FROM ANY
ORGANIZATIONS ARE APPROPRIATE BECAUSE RESULTS INFORMATION
IS OBVIOUSLY OF GREAT INTEREST TO US AT NHGRI AND I
REALLY DO THINK THAT HAVING THIS WORKING GROUP GET AS
MUCH INFORMATION AS THEY CAN, ALL THAT INFORMATION WILL BE
PASSED OFF TO THIS NEW WORKING GROUP THAT WE WILL BE
INVOLVED IN AND I THINK IT WILL BE IMPORTANT FOR US TO
HAVE AS MUCH DATA AND INFORMATION INFRONT OF US AS
POSSIBLE. OKAY.
SO, LET ME MOVE ON FROM THE NIH AND NOW TALK ABOUT
GENOMICS IN PARTICULAR AND UPDATE THAT HAVE HAPPENED
SINCE THE LAST COUNCIL MEETING.
CLICK??LET US START WITH THE LEGENDARY JAMES CROW DIED,
AND HE WAS 95 YEARS OLD WAS WORKING AT THE UNIVERSITY OF
WISCONSIN, HE WAS A POPULATION LEADER IN GENETICS
AND AND ATOMIC USAGE, HE WAS A HE REGARDED GENETICS
TEACHER HIS PROS NOTES AS THEY'RE CALLED IS A TEXTBOOK
WIDELY USED AT COLLEGE LEVEL FOR INTRODUCTION TO GENETIC
COURSES. I KNOW CROWS NOTES EXTREMELY
WELL BECAUSE I TOOK HIS GENETICS 101 COURSE IN 1979.
I SHOULDN'T ADMIT THIS, BY FAR THE MOST SUBSTANTIVE
GENETICS COURSE I'VE TAKE THEN MY ENTIRE LIFE.
IT WAS 1 OF THOSE THINGS ESPECIALLY OF UNIVERSITY OF
WISCONSIN, 65, 600 STUDENTS WOULD BE IN ATTENDANCE.
I WOULD SIT IN THE BACK BECAUSE YOU COULDN'T GET A
SEAT IN THE MAIN AREA, AND EVERYBODY WOULD COME AND HE
WOULD SIT THERE WITH CHALK AND HAVE THE GROUP ENAMORED.
HE WAS A FABULOUS TEACHER. BUT TRULY TRAGIC LOSS BUT BOY
DOES HE LEAVE A LEGACY OF MANY PEOPLE HE TRAINED AND
TAUGHT AND MAJOR IMPACT ON THE FIELD.
LAST WEEK WE LEARNED THAT GENETICS PYONEAR NORTON
ZINDER DIED AND HE WAS SERVING AS A MEMBER OF THIS
ADVISORY COUNCIL WHEN WE WERE THEN KNOWN AS THE NATIONAL
CENTER FOR HUMAN GENOME RESEARCH.
AMONG HIS ACCOMPLISHMENTS THE DISCOVERY TRANSDUCTION IN
BACTERIA. HE WAS THE JOHN D.
ROCKEFELLER JUNIOR EMERITUS AT THE ROCKEFELLER UNIVERSITY
WHEN HE PENTINE REGIMEN HIS ENTIRE RESEARCH CAREER.
MOVE O GBA TO AWARDS, DAVID ALTSHULER, WAS GIVEN THE
AMERICAN KERN SOCIETY AWARD FOR WORK IN HUMAN GENETICS.
HE WAS HONORED WITH HIS STUDY OF HUMAN GENETIC VARIATION
AND USING TOOLS AND KNOWLEDGE BANE FRIDAY THE??FROM THE
HUMAN GENOME PROJECT AND GIVEN RECOGNITION FOR MAJOR
SCIENTIFIC ACHIEVEMENT IN HUMAN GENETICS THAT OCCURRED
IN THE LAST 10 YEARS. ANDIE FEINBERG WAS GIVEN AN
NIH PIONEER'S AWARD. IT WAS ON THE EPISTATIC
GENERAL EVOLUTION FOR DEVELOPMENT AND DISEASE.
CONGRATULATIONS TO ANDIE. KEOLU FOX WAS IN THE NHGRI
RESEARCH AND HE IS NOW AN F31 FELLOWSHIP AT UNIVERSITY OF
WASHINGTON AND AWARDED THE BEST GRADUATE STUDENT
PRESENTER FOR GENETIC AT THE SOCIETY FOR CHICANOS AND
NATIVE AMERICANS IN SCIENCE. CONGRATULATIONS TO HIM.
MANOLIS KELLIS, HE WAS A Ph.D. FROM M. I.T. AND WAS
APARADIGMED THE ATHENS INFORMATION TECHNOLOGY FOR
RESEARCH AND PRESENTATION, HE GOT THE NIKI AWARD.
IT IS AWARDED TO INDIVIDUALS OF GREEK DESCENT AND THEY
INSPIRE A GENERATION OF SCIENTISTS.
ANOTHER INDIVIDUAL WELCOME TO NHGRI, PUBLIC WELFARE MEDAL,
THE MOST PRESTIGIOUS AWARD. IT IS PRESENTED ANNUALLY TO
HONOR SOMEONE DEMONSTRATING EXTRAORDINARY USE OF SCIENCE
FOR THE PUBLIC GOOD. THROUGHOUT HIS CAREER, HAROLD
HELPED SHAPE SCIENCE AND PUBLIC POLICY AND THE PUBLIC
WELFARE MEDAL WILL BE PRESENTED DURING ON APRIL 30
DURING THE ANNUAL MEETING AND PUT IN SPECTIVE, AND OTHER
RECEIVERS FROM CARL SEGALAND OTHERS.
HERE ARE OUR GOOD FRIENDS COLLEAGUES AND ADVISOR OF
NHGRI, JEFF MURRAY, GEOFF DUYK, AND VIVIAN AND
EVAN AND RICHARD. AND THEN SIMILARLY A NUMBER
OF INDIVIDUALS WITH NHGRI WERE RECENTLY ELECTED TO THE
INSTITUTE OF MEDICINE MARTY, VIVIAN, CLAIR, RICHARD AND
DAVID AND THE SAME HOLDS TRUE FOR RECENTLY ELECTED FELLOWS
OF AAAS ANDIE FEINBERG, EDWARD, RICHARD AND RICHARD.
CONGRATULATIONS TO ALL OF YOU.
MOVE O GBA IN THE POLICY AREASON ALAST FALL CONGRESS
PASSED LAW, OF INTEREST WITHIN THIS ACT IS THE
ENVIRONMENT PER THE U.S. PAT EPT AND TRADE MARK OFFICE TO
CONDUCT A STUDY ON GENETIC TESTING RINGS SPECIFICALLY
THE LAW REQUIRES THAT THE PTORREPAIR FOR CONGRESS ON
QUOTE EFFECTIVE WAYS TO PROVIDE INDEPENDENT
CONFIRMING GENETIC DIAGNOSIST TEST ACTIVITY WHERE GENE
PATENTS AND LANGUAGE LICENSING FOR DIAGNOSTIC
TESTS EXIST AND THE STUDY IS DID SESIGNED TO GENE PATENTS
AND LICENSES CAN PREVENT PATIENT ACCESS TO GENETIC
TESTING. THE REPORT IS DUE TO CONGRESS
BY JUNE 16th THIS YEAR AND THE PTO IS HOLDING PUBLIC MEET
NOTHING FEBRUARY AND IN MARCH.
I WILL PLAN TO REPORT BACK ON THESE FINDINGS AT A FUTURE
COUNCIL MEETING. ON FEBRUARY 2 OF THIS YEAR,
THE PRESIDENTIAL COMMISSION FOR THE STUDY OF BIOETHICAL
ISSUES MET IN SAN FRANCISCO TO DISCUSS BIOETHICAL ISSUES
ASSOCIATED WITH WHOLE GENOME SEQUENCING.
THE COMMISSION HEARD FROM A NUMBER OF EXPERTS INCLUDING
FORMER NHGRI COUNCIL MEMBERS THE COMMISSION'S FOCUS WAS ON
ISSUES OF PRIEFACY ALTHOUGH THE DISCUSSIONS FREQUENTLY
RETURN TO CONSENT AND MEANINGFULLY INFORM INDEED
LIGHT OF VERY LOW GENOMIC LITERACY AMONG CLINICIANS AND
THE GENERAL PUBLIC. THE COMMISSION OF THE PUB
LIBRARY FOUNDATION RESPORT WILL BE ON THE SUBJECT THIS
YEAR AND NHGRI STAFF, BOTH TO SERVE AS A RESOURCE FOR ANY
INFORMATION THEY MIGHT NEED BUT ALSO TO PROVIDE INPUT ON
POSSIBLE DIRECTIONS THE COMMISSION MIGHT PURSUE.
THIS PAST JULY, THE INSTITUTE OF MEDICINE ROUND TABLE ON
TRANSLATING GENOMIC BASED RESEARCH FOR HEALTH, POSTED A
WORKSHOP TO HIGHLIGHT AND DIRKS DENTIFY THE CHALLENGES
AND OPPORTUNITIES IN INTEGRATING LARGE SCALE AND
GENOMIC PRACTICE. THE MAIN OBJECTIVE WAS TO
START A DISCUSSION ON WHAT NEEDS TO BE DONE TO PREPARE
THE INFRASTRUCTURE AND DISCUSS VARIOUS CHALLENGES
FOR REALIZINGLY GENOMIC MEDICINE.
THE SUMMARY IS SHOWN HERE IS AVAILABLE ON DOCUMENT 22.
WE HEARD THIS REPORT IS GENERATED THE MOST INTEREST
OF ANY OF THE MEETINGS AND REPORTS GENERATED TO DATE BY
THE ROUND TABLE. THERE WILL BE A FOLLOW UP
MEET NOTHING JULY OF THIS YEAR EXPLORING ASPECTS OF THE
ECONOMICS. AND WHOLE GENOME DESENSING
THAT NHGRI GREG FERROWILL BE CHAIRING.
MOTIVATED BY THE EXPLOSION OF MOLECULAR DATA ON HUMANS
PARTICULARLY DATA ASSOCIATED WITH INDIVIDUAL PATIENTS AND
THE SENSE THAT THEY'RE A LARGE ASYET UNSTAPPED
OPPORTUNITIES TO USE THESE DATA OUTCOMES THE NATIONAL
ACADEMY ISSUE THIS IS REPORT ON TOWARDS PRECISION MEDICINE
BUILDING A KNOWLEDGE NETWORK FOR BIOMEDICAL RESEARCH AND A
NEW TAXONOMY DISEASE AND IT EXPLETING THE FEASIBLE OF
DEVELOPING??EXPLORES THE FEASIBILITY OF DEVELOPING
TAXONOMY AND THE FRAMEWORK FOR CREATING 1.
IT REQUIRES RESEARCHERS AND HEALTH CARE PROVIDERS HAVE
ACCESS TO HEALTH RELATED AND DISEASE RELATED DATA, LINKED
TO INDIVIDUAL PATIENTS. THESE DATA ARE ALSO CRITICAL
FOR DEVELOPING THE INFORMATION FOR DISEASE AND
ULTIMATELY THE NEW TAXONOMY. ANOTHER REPORT YOU MAY RECALL
IN MAY OF LAST YEAR, THE PATEL TECHNOLOGY PRACTICE
PUBLISHED ECONOMIC ANALYSIS THAT WAS SPIRITED BY LIFE
TECHNOLOGIES BUT RELATED TO THE ECONOMIC AND ECONOMIC
IMPACT ON GENOMICS R, AND D THROUGH MUSEUM MAN GENOME
PROG EXPECT BEYOND L. RECENTLY THE P A TEL GROUP
RELEASED A REPORT ON PART PARTHE FUNCTIONAL IMPACT OF
GENERATEDET AND I CAN CLINICAL LABORATORY TESTING
AND THE STUDY FOUND THAT IN THE EARLY STAGES THESE
TESTING SECTOR VS BEEN RESPONSIBLE FOR DIRECTLY AND
INDIRECTLY EMPLOYING 116,000 WORKERS AND GENERATING
PERSONAL INCOME AND PROVIDING 1.2 BILLION DOLLARS ANNUALLY
IN FEDERAL TAX REVENUE. OUR GOOD FRIEND AT THE
AMERICAN COLLEGE OF MEDICAL GENETICS RECEIPTLY DECIDED TO
CHANGE THEIR NAME OF THEIR ORGANIZATION, TO THE AMERICAN
COLLEGE OF MEDICAL GENETICS AND GENOMICS.
THIS WILL TAKE PLACE IN MARCH AT THEIR ANNUAL MEETING
HOWEVER THEY WILL STILL MAINTAIN THEIR SAME ACRONYM,
ACMG, AND ACCORDING TO ACMG, THE NAME CHANGE RECOGNIZING
THE INCREASINGLY CENTRAL ROLE OF MEDICAL GENOMICS AND IT'S
IMPORTANT ALONG SIDE GENETICS AND FULFILLING THE MISSION OF
THE AMERICAN COLLEGE OF MEDICAL GENETICS.
NHGRI CONTINUES TO FEATURE ON OUR WEB SITE A MONTHLY
FEATURE HILIGHTING GENOMIC ADVANCE OF THE MONTH.
RECENT TOPICS INCLUDED A GENOMICS APPROACH OF TRAUM
ATHE SEQUENCE OF THE FULL GENOME OF THE BACTERIA
RESPONSIBLE FOR THE BLACK DEATH, NEXT GENERATION
SEQUENCING TARGETED AT KNOWN TUMOR SUPPRESSOR GENES AND
THE USE OF PREIOUSLY COLLECTED DATA OF GWAS TO
FIND NEW PATHWAYS TO REGULATE HOW OUR BODIES MAKE
PLATELETS. I WILL NEW MOVE TO THE
GENOMICS IN THE NEWS FEATURES.
STARTING WITH THE GENOME THAT CAPTURED NEWS ATTENTION FOR
EXAMPLE, THE GENOME OF ABORIGINAL, AND IT SUGGEST
THAD THEY STARTED THEIR MIG RATTERY JOURNEY FROM OVER 60
YEARS AGO, SCIENTISTS SEQUENCE THE GENOME OF A
DUTCH WOMAN WHO LIVED TO AGE 115.
SHE WAS BORN IN 1890 AND PASSED AWAY IN 2004.
THIS WOMAN OVERCAME BREAST CANCER AT THE AGE OF 100
NEVER SHOWED SIGNS OF DEMENTIA OR ALZHEIMERS
DISEASE. IN JANUARY, THE SCIENTISTS
RAN A FEATURE STORY ABOUT ELAINE MARDIS, ENTITLED
HIGH?TECH CHOIR MASTER. CONGRATULATIONS AND ALSO,
THERE WAS AN ARTICLE ON ERIC LANDER TITLED: POWER IN
NUMBERS. THIS IS A PATIENTS IN THE
CLINIC OF HIM WINNING FIRST PLACE IN THE SCIENCE TALENT
AND THE SAME YEAR HE MADE THE AMERICAN TEAM AND THE
MATHEMATICS, LIMPIAD THIS 1 MORE KACCT TININE PATHWAY
QUICKLY CAPTURES HIS GESTURES, YOU DON'T WANT YOUR
NECK TO BE BETWEEN THOSE FINGERS.
[LAUGHTER] ANOTHER NEW YORK TIMES
ARTICLE HIGHLIGHTED THE GENOMIC DATA EXPLOSION AND
HAD AN INTERESTING PICTURE OF *** Mc COMBO AND A
SEQUENCING FLOW CELL, IT'S A GOOD PHOTOAND RATHER
INTERESTING. IN CODE WAS IDENTIFIED BY
NATURE MAG SWREN AS A POTENTIAL COAT KEY FINDING
AND EVEN THAT MAY EMERGE IN 2012 AN ACCOMPANY ARTICLES A
MAJOR UPDATE FROM THE PROJECT THAT'S EXPECTED TO BE
REPORTED IN A MAJOR PUBLICATION IN 2012.
I DO FIND IT FUN THAT'S NATURE NEWS REPORTS THE
FUTURE BY KNOWING ABOUT A PAPER THAT MIGHT BE UNDER
REVIEW IN THE SAME JOURNAL. THEY REALLY WENT OUT ON A
LIMB IN THAT 1. AND LOOKING AT MY ENCODE
COLLEAGUES OUT HERE. WELL DESERVED.
THE NHGRI SEQUENCING PROGRAM WAS FEATURED IN A FLURRY OF
STORIES, IT ANNOUNCE THAD 2 SEQUENCING COMPANIES WILL
RELEASE SYSTEMS IN 2012 THAT WILL PREDICT TO ENABLE
SIGNIFY SEQUENCINGQUENCING??SEQUENCING
FOR A THOUSAND DOLLARS AND THEN WE HAVE STRANGE STORIES
SOME OF YOU MAY HAVE FOLLOWED THIS STORY THAT'S OCCURRED
LAST YEAR, WHERE THERE WAS A PROTEST THAT WAS BROKEN UP BY
PEPPER SPRAY BY THE UC DAVIS POLICE AND IN THE AFTERMATH
THERE WAS A STORY WITH WHERE THE UC PRESIDENT TALKED ABOUT
FREE SPEECH IS PART OF THE DNA OF THIS UNIVERSITY.
THE DNA,??I THOUGHT IT WAS INTERESTING THAT UNIVERSITY
VS DNA AND THAT THAT VERY WEEK I WENT, LIKE THE DAY
AFTER THE STORY CAME OUT, I WENT AND GOT STORE NEW TIRES
PUT ON MY CAR, AND THERE WAS A SIGN UP, I TOOK A PICTURE
WITH MY BLACKBERRY, WHATTA IN YOUR CAR'S DNA, DOUBLE HELIX
COMING OUT, SO UNIVERSITY VS DNA AND CARS HAVE DNA AND OUR
INSTITUTES PORTFOLIO OF DNA RESEARCH WILL ONLY INCREASE
IN THE FUTURE. OKAY, THOSE ARE MY NEWS
STORIES LET ME MOVE ON TO THE EXTRAMURAL PROGRAM.
WELL, FOLLOWING THE EXTENSIVE DISCUSSION WITH COUNCIL ABOUT
THE RENEWAL OF THE SEPTEMBER MEETING WE MADE FINDAL
DECISIONS AND ANNOUNCED THE NEW AWARDS IN DECEMBER.
RECALL THERE ARE 4 MAJOR COMPONENTS, OF THE RENEWED
NHGRI SEQUENCING PROGRAM, AND THE FIRST COMPONENT IS THE
LARGE SCALE GENOME SEQUENCING CENTERS WHICH SUFFICIENCY WAS
RENEWED FOR 4 YEARS AT A YEAR 1 FUNDING LEVEL OF KICKS
MILLION DOLLAR AND THEY'RE AT BAYOR LEDGE OF MEDICINE,
BROAD INSTITUTE IN WASHINGTON UNIVERSITY, WITH THE PICIOUS
IAS AND 1 LEVEL FUNDING AND THE LARGE SCALE GENOME
SEQUENCING CENTERS WILL CONDUCT RESEARCH INTO HOW THE
HUMAN GENOME WORKS AS WELL AS STUDIES OF THE GENETIC
CONTRIBUTIONS AND ONGOING SPECIAL PROGECS SUCH AS THE
CANCER GENOME OUTLET, THE CENTERS WILL WILL BE INVOLVED
IN NEW MEDICAL INITIATIVES AND IMPLEMENT TECHNOLONGICAL
ADVANCES IN SEQUENCING AND DEVELOP NEW TECHNOLOGIES AND
ANALYZE AND UNDERSTAND THE MASSIVE AMOUNTS OF SEQUENCE
DATA PRODUCED AND CONTINUE TO TRAIN GENOMIC RESEARCHERS.
THE SECOND COMPONENT OF OUR SEQUENCING PROGRAM INVOLVED
THE CREATION OF NEW MENDELIAN CENTERS, MENDELIAN ORDERS AND
GENOME CENTERS, FOR THIS, THE PARTNER WIDE THE HEART AND
LUNG BLOOD INSTITUTE TO INVEST 48 MILL YONCH DOLLARS
OVER THE NEXT 3 YEARS AND NHGRI AND NHLBI CONTRIBUTING
40 MILL JO AND 8 MILLION RESPECTIVELY.
FUNDS CENTERS WERE LOCATED THE UNIVERSITY OF WASHINGTON
WHICH WILL SERVE AS THE COORDINATION GROUP, AND AT
YALE UNIVERSITY ANDA A PARTNERSHIP BETWEEN THE JOHNS
HOPKINS UNIVERSITY AND PIs AND FUNDING LEVELS ARE SHOWN
HERE. THESE 3 CENTERS WILL
COLLABORATE WITH A WORLD WIDE NETWORK OF EXPERTS TO
SEEQUENCE THE GENOMES OF THOUSANDS OF PARENTS AND
THEIR FAMILY MEMBERS TO I DENTIFY THE GENERATEDET
VARIANCE RESPONSIBLE FOR RARE GENETIC DISORDERS, AT THE
COORDINATION CENTER OF THE UNIVERSITY OF WASHINGTON
ACTIVITIES, THAT ARE EXSENTIAL FOR THE PROGRAM'S
SUCCESS AND WILL HOST THE SOLE WEB PORTAL FOR SAMPLE
SOLISITATION. NOW 6 AWARDS OF THE INDICATED
AMOUNT VS BEEN MADED TO THE INDICATED PI WHO WILL TEST
TECHNICAL AND PSYCHOSOCIAL QUESTIONS OF GENOME
SEQUENCING IN THE CLINIC. 2 AWARDS WITH EMPHASIS ON
CANCER ARE CO FUNDED BY THE NCI.
THE FOURTH AND FINAL CONFOMENT OF OUR RENEWED
SEQUENCING PROGRAM INVOLVES GRANT ARE FOR DEVELOPING
INFORMATICS TOOLS FOR HIGH THROUGHOUT PUT ANALYSIS, AND
16 MILLION DOLLARS OVER 4 YEARS, THE GOAL OF THIS
PROGRAM IS DEMOCRATIZE ACCESS, AND DNA ANALYSIS
SOFTWARE AND INDEPENDENTCHERS WILL ANALYZE THEIR OWN
SEQUENCE DATA. THIS PROGRAM BUILD O SINGLE
PREVIOUS INVESTMENTS THAT HAVE BEEN LED TO THE
DEVELOPMENT OF NASCENT SOFTWARE TOOLS ABOUT THE
GRANTEES WILL WORK TO MAKE THEM RELIABLE, ROBUST AND
USER FRIENDLY FOR INDEPENDENT INVESTIGATORS AND ALSO FOR
NONDENATIONAL LIBRARY OF MEDICINE CYSTS.
AND THE PIs AND FUNDING AMOUNTS ARE SHOWN HERE AND
ALSO NOTE IT THAT THERE ARE 1 OR 2 SBIR AWARDS MADE AS PART
EVER THIS PROGRAM. ONE HIGHLIGHT IS THE RECENT
PUBLICATION EVER NATURE REPORTING THE SEQUENCING AND
COMPARATIVE ANALYSIS, AND THE GENOMES, THE AUTHORROR'S
GENERATED A HIGH RESOLUTION MAP OF 3.5 MILLION AND
EVOLUTIONARY CONSTRAINED AND THEY ENCOMPASS 4%.
THIS USED SIGNATURES AND IN COMPARISONS WITH EXPERIMENT
DALA SET TO SUGGEST CANDIDATE FUNCTION FOR ABOUT 60% OF THE
CONSTRAINED BASIS. OVERLAP WITH DISEASE
ASSOCIATED VARIANCE INICATE THESE WILL BE RELEVANT FOR
FUTURE STUDIES FOR BIOLOGY AND DISEASE.
THE DATA SETS ARE AVAILABLE AT THE BROAD INSTITUTE AND AT
THE SANTA CRUZ GENOME BROWSER.
THE TCGA DESCRIBED RESEARCH USING TCGA DATA.
IT WAS WELL ATTENDED. IT SOLD OUT.
TOTAL CAPACITY. ALL THE TALKS ARE AVAILABLE
ON NHGRIs GENOME TV CHANNEL OF YOUTUBE AND THE LINK OF
THOSE TALKS IS PROVIDED IN DOCUMENT 29.
BASED ON THE SUCCESS OF THIS MEETING THERE WILL BE A
SECOND SCIENTIFIC SYMPOSIUM IN NOVEMBER OF THIS YEAR AND
AACR HAS AGREED TO COSPONSOR THE MEETING ALONG WITH NHGRI
AND NCI. THE PROGRAM CONTINUES WITH
ITSELF GOALS. ANOTHER GOAL IS TO ANALYZE
SPECIMENS FROM 20 TUMOR TYPES AND THE LIST ON THE RIGHT
SHOWS THE ACTIVE 22 PROJECTS IN TCGA AS OF TODAY.
ACCRUAL AS CLOSED FOR GLEEL BLASTOMA AND COLORECTAL AND
RENAL CLEAR CELL CARCINOMA, LEAVING THE GALL OF
QUALIFYING 500 CASES FOR THESE PROGECS HAS BEEN
ACHIEVED. THERE ARE ACTIVE TUMOR
WORKING GROUPS PREPARING PAPERS FOR PUBLICATION AND
INCLUDING PREVALENT CANCERS MANUSCRIPT DESCRIBING THE
FULL CHARACTERIZATION IS UNDER REVIEW, AND PAPERS FOR
BREATH, LUNG AND KIDNEY CANCERA LOS ANGELES ACUTE
MYELOID AND IN PREPARATION AND ARE EXPECTED TO BE
PUBLICKED BY THE END OF 2012. MOVING ON TO THE THOUSAND
GENOMES PROJECT, THE PHASE 1 PAPER IS WRITTEN FOR 1094
SAMPLES WITH 14 POPULATIONS, FUST MILLION SNPs, INDELLS
AND DELETIONS. PHASE 2 CONTAINS LOW COVERAGE
AND EXOHM SEQUENCING DATA ON 1600 UN RELATED SAMPLES AND
PHASE 3 SHOULD BE DONE BY APRIL, ALL SEQUENCING SHOULD
BE COMPLETED BY FALL THIS YEAR AND 2500 UNRELATED
INDIVIDUALS PLUS 116 TRIOS. OR KIDS WITHIN TRIOS.
AND COMPLETE GENOMIC WILL DEEPLY STEP IN AND SEQUENCE
500 SAMPLES INCLUDING CON61 TRIOS.
SO THERE ARE NOW SEVERAL STUDIED BY THE GENOME
PROJECT. THE EIGHTH ANNUAL MEETING OF
THE DNA ANNUAL GRANTEE MEETING WILL BE HELD IN APRIL
IN SAN DIEGO. AS I MENTIONED EARLYIER JEFF
SCHLOSS WILL GIVE A PRESENTATION ON THIS LATER
TODAY. APPLICATION WILL WERE RECEIVE
INDEED 3 RESPONSE RFAs AND THESE ARE DISCUSSED DURING
THE CLOSED SESSION OF THIS COUNCIL MEETING.
3 ENCODE RNAs WITH UL1, U54 MECHANISMS WERE RELEASED THIS
PAST OCTOBER AND APPLICATIONS RECEIVE INDEED DECEMBER.
THESE RFAs AIM TO SOLISIT APPLICATIONS FOR RESEARCH
PROJECT TO APPLY THE HIGH THROUGH PUT APPROACHES TO
EXTEBD CODE RESOURCES COMPLETE A CATALOGS AS
POSSIBLE. APPLICATIONS REVIEWED IN
MARCH AND DISCUSSED BY COUNSEL IN MAY.
NHGRI IS IN THE PLANNING STAGES FOR A SYMPOSIUM TO BE
HELDOT NIH CAMPUS ON JUNE 20th AND 21.
OUR GOAL IS TO BROADEN MODEL ORGANISMS AND SHOWCASE THE
MODEL ENCODE CONSORTIUM. THE MEET SUGGEST PLANNED TO
TIE INTO THE UPCOMING MODEL ORGANISM TO HUMAN DISEASE
MEETING AND THAT'S BEEN ORGANIZED BY THE GENETIC
SOCIETY OF AMERICA AND SCHEDULED AT AN ADJACENT TIME
IN THE WASHINGTON D. C. AREA. MOVING ON TO ANALYSIS.
THERE WAS A JOINT SESSION INCLUDING ENCODE AND
GENERATED EVALUATION PROCESSA INVESTIGATORS AND ENCODE
VARGTS ANALYZE 8 GENEVA GARNET DATA SETS, AND THEY
WERE PAIRED UP WITH GENEVA GARNET INVESTIGATORS FOR
HANDS ON DEMONSTRATIONS HOW TO USE THE ENCODE DATA TO
FOLLOW UP THE STUDY. OUR??NEW COLLABORATIONS
BETWEEN THE CONSORTIUM WERE ESTABLISHED ALREADY RESULTS
IN PLANS FOR PUBLICATIONS AND GRANT APPLICATION.
MEAN WHILE SEVERAL INTEGRATED ANALYSIS PAPERS ARE IN THE
WORKS. THE ENCODE CONSORTIUM IS AN
INTEGRATIVE PAPER UNDERREVISION AT A JOURNAL I
MENTIONED EARLIER ALONG WITH MANY COMPANION PAPERS ALL OF
WHICH ARE AIMED TO BE PUBLICKED IN 2012.
THE MODENCODE CONSORTIUM IS WORK ON A PAPER THAT
INTEGRATES WORM ACCIDENT FLY AND HUMAN AND MODENCODE DATA.
AND THE MODENCODE IS COMPARING HUMAN IS MOUSE DATA
N. OUR ELSI PROGRAM, THIS IS CONSORTIUM INVESTIGATORS
CONDUCTING RESEARCH ON ETHICAL, LEGAL AND SOCIAL
ISSUES RELATED TO GENOMIC RESULTS INCLUDING FINDINGS TO
STUDY PARTICIPANTS OR PATIENTS IN THE CONTEXT OF
CLINICAL CARE. THE CONSORTIUM INCLUDES
INVESTIGATORS WITH 7 RO?1 AND R21 GRANTEDS FUNDED THROUGH
THE RFA, AND ALSO INCLUDES ELSI, FUND IN THE CLINICAL
SEQUENCING EXPLORATORY RESEARCH GRANT, AS WELL AS
INVESTIGATORS IN 2 OTHER ELSI GRANTS THAT ARE STUDYING THE
ISSUES. THEY AIM TO IDENTIFY QUARS
THAT CONFORM THE BASES ARE POLICY DEVELOPMENT IN THIS
COMPLEX AREA. ALREADY PLANS ARE UNDERWAY
AMONG THE INVESTIGATORS FOR SHARING OUTCOME MEASURES IF
AND INSTRUMENTS WHICH FACILITATE OUTSTANDING
MEMBERMENT AND DATA OF STUDIES.
THE CENTERS OF EXCELLENCE AND GENOMIC SCIENCE, AND
DIVERSITY ACTION PLAN DAT PROGRAM HELD BACK?TO?BACK
MEETINGS AT THE DANA?FARBER CANCITUTE IN BOSTON. THIS IS
OUR LARGEST MEETING TO DATE WITH 10 ACTIVE GROUPS.
THE SCIENCE WAS OUTSTANDING. WE'RE HOPING TO BRING THE TWO
GROUPS TOGETHER, TO A COUNSEL MEETING SO THEY CAN SHARE
THEIR EXPERIENCE AND RESULTS WITH COUNCIL MEMBERS.
THE SUMMARY HAS BEEN PROVIDED UNDER DOCUMENT 32.
WE WILL BE DISCUSSING THE MOST RECENT ROUND OFESTS
APPLICATIONS AND THE REVIEWS DURING THE NEXT PROGRAM
MEETING AND THE NEXT DATES ARE MAY 17th AND THE ACTION
PLAN IS MAY 25. IN DECEMBER, NHGRI HOSTED A
WORKSHOP IN CHARACTERIZING AND DISPLAYING GENETIC
VARIANTS FOR CLINICAL ACTION. DUBBED THE CLINE ACTION
WORKSHOP. IT DREW ABOUT 80 PARTICIPANTS
FROM A WIDE RANGE OF DISCIPLINES AND ORGANIZATIONS
INCLUDING SEVERAL NNIH INSTITUTES AND CENTERS AND
ALSO THE CENTERS FOR MEDICARE AND MEDICAID SERVES, CMS AND
THE FOOD AND DRUG ADMINISTRATION, THE GOAL OF
THE WORKSHOP WAS TO CONSIDER PROCESSS AND DATABASES AND
OTHER RESOURCES NEEDED TO IDENTIFY CLINICALLY RELEVANT
BEAR AREAS AND WHAT THE ACTION SHOULD BE AND PROVIDE
THIS INFORMATION FOR CLINEICAL USE.
??CLINICAL USE, VIDEOS PRESENTATIONS AND
RECOMMENDATION FROM THE WORKING GROUP ARE POSTED ON
THE WEB SITE, GENOME .GOV. AND A MANUSCRIPTS COVERING
THE WORKSHOP IS UNDER PREPARATION.
THE CONCEPT CLEARANCE FOR THIS AREA WE PRESENTED LATER
TODAY BY TERRY MIN OLEO. ALSO IN DECEMBER, THEY HOSTED
A 2 MEETING WHICH BUILT IN THE GENOMIC MEDICINE 1
MEETING THAT WAS PRESENTED AT THE LAST COUNSEL MIGHTING,
THIS WAS THE SECOND OF AT LEAST 4 PLANNED GENOMIC
MEETINGS UNDER THE AH SPIESIS OF THE GROUP, IT WAS ATTENDED
BY 70 PEOPLE. THE GOALS WERE TO DEVELOP
IDEAS FOR MULTICENTER COLLABRATIVE PILOT PROGECS
AND TRANSLATIONAL GENOMIC MEDICINE TO LEARN OF NEW PROG
EBLGHTS ONGOING AT POTENTIAL PARTNER SITES AND IDEBTIFY
PARTNER, NEEDS AND INFRASTRUCTURE TO SPEED THE
ARKS??ADOPTION OF GENOMICS MEDICINE.
THERAPY AND WORKS TO REPORT THE RECOMMENDATION SAYS AT
THE NEXT MEETING. VIDEOS PRESENTATIONS AND
RECOMMENDATIONS ARE ON GENOME .GOV.
AND A CONCEPT ABOUT THIS WILL BE PRESENTED LATER TODAY BY
TERRY NENOLIO. THEY WILL COVER GOVERNMENT
REGULATORY AGENCIES AND PRECEPTATIONS.
SO THATTA WHAT I WANT THE TO SAY ABOUT THE EXTRAMURAL
PROGRAM LET ME MOVE ON AND TALK ABOUT UPDATES FOR
RELEVANT NIH COMMON FUND PROGRAMS.
STARTING WITH THE MOLECULAR LIBRARIES PROGRAM, NOW IT
HOLDS BACK 25% OF EACH CENTER'S AWARD FOR RELEASE
BASED ON DEMON TRAITED PROGRESS AT THE MIDYEAR POINT
TOWARDS THE SET OF THE MILESTONE AND THE 4 NHGRI
CENTERS GOOD TO EXCELLENT PROGRESS TOWARDS ALL
MILESTONE THIS IS YEAR. THE MLP STEERING COMMITTEE
MEETING OCCURS TWICE A YEAR AND THE NOVEMBER MEET
HANDWRITING INDIVIDUAL PRESENTATION O SINGLE CENTER
DRIVEN RESEARCH PROGECS FUNDED AS PART OF EACH
CENTERS U54 GRANT. THESE CENTER DRIVEN PROJECTS
WERE ADD AT THE REQUEST OF PREVIOUS NIH DIRECTOR OF
ELIAS ZERHOUNI IN 2008. ANOTHER TOPIC WAS NEXT
AGAINERATION DATABASE TO ADVANCE CHEMICAL BIOLOGY
DATABASE BEYOND THE CURRENTLY PROVIDED BY PUB COUNT.
DEVELOPMENT OF THIS MOLECULAR BIOLOGICAL DATABASE WILL BE
THROUGH SUPPORT OF THE MLP CENTERS.
THE KOMP WOUND DOWN AND THIS WAS COMBINED WIDE A MOUSE
PHENOTYPING CONFERENCE IN SEPTEMBER.
KOMP2 WAS AWARDED IN NOVEMBER, IT'S TO PRODUCE AND
PHENOTYPE 2500 MOUSE TRAINS. 3 CENTERS THAT SUBMITTED PAIR
AND MOUSE PRODUCTION AND FEIGNEE TYPING APPLICATIONS
WERE FUNDED AS SHOWN HERE ON THE SLIGHT.
1 APPLICATION WAS FUNDED FOR DATA COORDINATION CENTER AND
THE DAILY BASIS THEA BASE AT THE EBI.
THE G?TECH PROJECT, GENOTYPE TISSUE EXPRESSION PROJECT,
THEIR INVESTIGATOR HIS THEIR THIRD IN PERSON MEET NOTHING
DECEMBER AT THE POINT WHEN THE PILOT PHASE OF THE
PROJECT WAS HALF COMPLETE. I WILL IT YOU THERE'S BEEN
EXCELLENT PROGRESS IN MEETING THE MILESTONES FOR THE PILOT
PHASE WITH RESPECT TO DONOR ENROLLMENT AS SHOWN IN THE
BAR GRAPH. THE SPECIFICALLY THE PROGRAM
IS AVERAGING 10 DONORS PERMONTH WITH THE CURRENT
TOTAL NUMBER OF APPROACHING 100 NOTE THE TARGET IS 160.
RESULTING QUALITY OF THE RNA FROM THE RAPID AUTOPSY
TISSUES HAVE BEEN QUITE GOOD, INDIVIDUAL GOOD AT TARGET
LEVELS. THE EXTERNAL SCIENTIFIC PANEL
WHO I MET WITH DURING THIS MEETING WAS ACTUALLY QUITE
IMPRESSED AND SUPPORTIVE OF THIS PILOT PHASE OF THIS
COMMON FUND PROJECT. SO A PROPOSAL TO INCLUDE AN
ADDITIONAL 600 TO 800 DONORS IS BEING DEVELOPED FOR
POSSIBLE 2013 FUNDING. THE LINE OF INTEGRATED
NETWORK BASED CELLULAR SIGNATURES PROGRAM HELD A
CONSORTIUM MEETING IN OCTOBER WITH MEMBERS OF THE
PRODUCTION CENTERS AS WELL AS NEWLY AWARDED SUPPLEMENT
DEVELOPMENT AND COMPUTATIONAL TOOL AWARDEES.
THE PANEL MEMBERS FOR THE PROJECT WERE AND PROACTIVE
VIED TED SEVERAL RECOMMENDATIONS INCLUDING
DEVELOPING A TRANSCENTER PROJECT BETWEEN THE U54 AND
UL1 GROUPS CREATING A PUBLIC DATA RELEASE POLICY AND
DEFINING METRICS FOR THE PROGRAM.
THE LINCS CENTERS CREATE AID WEB SITE AND THEY DRIB THE
DATA AVAILABLE THROUGH THE RESPECTIVE CENTERS WEB SITE
AND ALSO TO DISCUSS CURRENT EXPERIMENTAL COMPONENTS OF
THE PROGRAM AND UPDATE USERS ON NEW DEVELOPMENTS IN THE
LINCs PROGRAM. NIH STAFF IS IN THE PROCESS
OF DEVELOPING A PLAN FOR BRIDGE FUNDING FOR LINCs FOR
2013 AND THE PROPOSAL IS COORDINATED WITH THE COMMON
FUND AND FINALIZED SHORTLY. AS RECOMMENDED BY THE
EXTERNAL ADVISORY PANEL, NIH STAFF IS DEVELOPING LANGUAGE
RELEASE POLICY FOR THE PROGRAM, WHICH WILL INCLUDE
LINKS, NCs, PRODUCTION CENTERS.
NEXT PROGRAM, THE PROTEIN CAPTURE REAGENTS PROGRAM, IF
THIS PROGRAM, THEY HAVE A KICKOFF MEETING IN DECEMBER,
ACCOMPLISHMENTS INCLUDED FORMATION OF WORKING GROUPS
TO COMPLETE CERTAIN TASKS AND A DEVELOPMENT OF A PUBLIC
PORTAL TO ACCESS THE AFFINITY REAGENTS, THEY PUT TOGETHER A
PANEL COMPRISED OF 5 MEMBERS FOR THE PROGRAM, THIS PANEL
HAS A CHANCE TO MAKE INITIAL SUGGESTIONS DURING THE
DECEMBER MEETING AND NIH STAFF IS PLANNING A FOLLOW UP
CONVERSATION IN THE COMING MONTHS.
HUMAN HEREDITY AND AND MENTAL OR H3AFRICA PROGRAM.
APPLICATIONS FOR ALL 4 RFAs ARE ON DEVELOPING CENTERS,
RESEARCH PROJECTS, BIOREPOSITORIES AND
BIOINFORMATICS NETWORK WERE ALL RECEIVE INDEED DECEMBER
AND WE WERE EXTREMELY PLEASED WITH THE RESPONSE.
IT WAS RATED AS EXCELINENTS TERMS OF THE NUMBER OF AND
DEPTH AND BREDTH OF APPLICATION.
THE INITIAL REVIEW OF THESE APPLICATIONS WILL BE IN
MARCH, THE SECOND LEVEL REVIEW WILL BE AT THIS
COUNCIL MEETING IN MAY. THE BIOREPOSITORY RNAs WAS
REISSUED FOR TECHNICAL REASONS AND THE DUE DATE IS
IN FEBRUARY. NOW REMEMBER, H3AFRICA IS A
JOINT VENTURE BETWEEN THE NIH COMMON FUND AND THE WELCOME
TRUST AND THE WELCOME TRUST APPLICATION PROCESS IS
PROCEEDING WELL, IT IS ON A SIMILAR TIME LINE.
AND FINALLY AN IMPORTANT MEETING WAS HELD IN NOVEMBER
IN NIGERIA CALLED ETHICS AND GENOMICS RESEARCH IN AFRICA
OR EAGER AFRICK AAT THIS MEETING A GROUP OF
BIOETHICISTS AND RESEARCH, POLICY MAKERS AND
REPRESENTATIVE FROM VARIOUS AFRICAN COUNTRIES AND THE
UNITED STATES AND UK GATHERED TO DISCUSS THE RESEARCH IN
AFRICA. THESE DELIBERATIONS WILL
INFORM SOME OF THE BROADER PLANS FOR H3AFRICA.
FOR THE COMMON FUND NEW SINGLE SELL ANALYSIS
INITIATIVE, NEW RFAs WERE PUBLISHED SINCE THE LAST
COUNCIL MEETING, THEY WERE IN THE FOLLOWING AREA, STUDIES
TO EVALUATE USING TRANSSCRIPTIONAL PROTEIN IN A
SINGLE CELL. INNOVATIVE CELLS, AND
ACCELLING INTEGRATION AND TECHNOLOGIES TO CHARACTERIZE
BIOLOGICAL PROCESSES AT THE SINGLE CELL LEVEL.
APPLICATIONS WERE DUE IN LATE JANUARY.
AND FINALLY AMONG THE NEW AREAS CHOSEN FOR POTENTIAL
COMMON FUND INITIATIVE IS DISRUPTIVE PROTEOMICS TECH
NOSNOLOGYS. THIS IS PROPOSED DURING
SOLISITATION FOR COMMON FUND PROGRAMS LAST SUMMER FOR FUND
NOTHING 20 YEAR 13. THE INSTITUTE AND CENTER
DIRECTORS ENDORSED THIS IDEA SO THE FUND IS MOVING FORWARD
AND DEVELOP THANKSGIVING PROGRAM. AND NIGMS AND
THEY'VE BEEN ASKED TO CO LEAD THIS EFFORT AND TRARCHES NIH
WORKING GROUP IS ESTABLISHED INCLUDING TINA GAT LYNN AND
NHGRI AND A STAT TREEJIC PLANNING PROCESS IS UNDER WAY
WHICH INCLUDES A PORTFOLIO ANALYSIS IN GATHERING COMIENT
INPUT. A PROPOSAL FOR THE GROUP IS
DUE IN LATE APRIL, AND IF APPROVED FOR FURTHER
CONSIDERATION, THEN A CONCEPT CLEARANCE WILL BE BROUGHT TO
THE COMMON FUND AND COUNCIL OF COUNCILS AT THEIR JUNE
MEETING, MEAN WHILE PLANNING FOR THE EARLY FUND PROGRAM,
HAVE JUST STARTED. AND THAT WILL HAVE MORE TO
SAY ABOUT THESE EFFORTS AT A LATER COUNCIL MEETING.
SO, THAT COVERS THE COMMON FUND AND LET ME MOVE ON NOW
TO TALK ABOUT UPDATES FROM THE NHGRI OFF I GUESS OF THE
DIRECTOR. THE FIRST IS THAT THE NNG RI,
GWAS CATALOG CONTINUES TO GWAS DATA FROM THE LITERATURE
BY PERSONNEL IN OUR OFFICE IN POPULATION GENOMICS THAT
ACCOUNTS FOR 1615 ASSOCIATES FOR 250 TRAITS AT PVALUES
LESS THAN 5 TO 10 TO THE MINUS 8.
AS OF JANUARY OF THIS YEAR, THE CATALOGS REACHED OVER
5600 SNPs WITH P?VALUES OF LESS THAN 10 TO THE MINUS 7.
2 NEW COLUMNS WERE ADDED TO THE GWAS CATALOG AND MAPPED
GENE AND SNP CONTEXT, IF YOU CLICK ON 1 OF THE LINKS UNDER
THE MAP GENE COLUMN FOR EXAMPLE, YOU ARE TAKE TONE A
RELEVANT GENE PAGE, THESE FEELS ARE RESULT INDEED A
FIELD OF NCBI TO IMPROVE THE QUALITY OF DATA MADE
AVAILABLE TO THE SCIENTIFIC COMMUNITY AND A COLLABORATION
WITH EBI HAS BEEN INITIATED AT CURATION EXPERTISE AND
IMPROVE IN AUTOMATING THE CATALOG DIAGRAM AND
STANDARDIZING TRAIT NAMES TO THE ONTOLOGY.
13 ARTICLES HAVE BEEN PUBLISHED AS PARLIAMENT OF
THE NEW ENGLAND JOURNAL OF MEDICINE GENOME SERIES THERE
ARE 14 ARTICLES PLANNED FOR THIS SERIES.
HERE ARE THE 4 PUBLISHED SINCE THE LAST COUNCIL
MEETING. THE SECOND U.S. SCIENCE AND
ENGINEERING FESTIVAL WILL TAKE PLACE ON APRIL 28 AND 29
THIS YEAR AT THE WASHINGTON CONVENTION CENTER.
AS WITH THE LAST FESTIVAL HELD IN OCTOBER OF 2010 NHGRI
WILL BE HEAVILY REPRESENTED AS NHGRI, FOR ACTIVITIES AND
AS A RESULT YOU CAN EXPECT THAT MANY, MANY, STRAWBERRIES
WILL BE SACRIFICED IN PURSUIT OF THEIR DNA.
WE WILL PARTNER WITH THE SOCIETY OF HUMAN GENETICS TO
HAVE JOINT ACTIVITIES AS PART OF THIS FESTIVAL.
GREG FIERO EXPLORES FAMILY HIST RESEARCH RESEARCH
AND??HISTORY RESEARCH AND MY FAMILY WATCH GROUP.
AND WE ALSO HAVE. >> HGRI IS COLLABORATING WITH
SUBURBAN HOSPITAL IN BETHESDA TO HOLD A MONTHLY GRAND
ROUNDS STYLE SEMINAR COVING COPPIC IN GENOMIC MEDICINE,
GREG FEAR O AND LEADING THE PLANNING FOR THIS SERIES
WHICH WILL RUN FROM LAST DECEMBER TO JUNE.
ALL THE TALKS ARE VIDEOTAPES AND MADE AVAILABLE ON NHGRI'S
TV CHANNEL OF YOUTUBE. A MEETING TO EXPLORE THE
GENOMIC OPPORTUNITIES FOR STUDYING SICKLE CELL DISEASE
WAS HELD LAST DECEMBER IN CALIFORNIA.
WHILE NHGRI WAS THE LEAD ORGANIZER, WE PARTNER WIDE
OTHER INSTITUTES INCLUDING NHLBI AND NIDDK, AND NIHD AND
NINDS AND THOSE HEART, LUNG, AND BLAD, CHILD HEALTH,
KIDNEY DISEASES, MINORITY HEALTH AND NEUROLOGICAL
DISEASES FOR THE MEETING. THIS MEETING WAS CO CHAIRED
BY MICHAEL DEBAUN, RICHARD GIBBS, AND JULIE MAKANI, FROM
TANZANIA. EMPLOY THERE WAS ENTHUSIASM
FOR ACCELERATING RESEARCH INTO SICKLE CELL DISEASE.
THE SIS DUGS EMPTHYSELFED A FACT THAT ATTENTION MEDES TO
BE PAID TO THE PHENOTYPING. AND THE PARTICIPATING NIH
INSTITUTES ARE CONTINUING DISCUSSIONS TO EXPLORE FUTURE
CONTRIBUTIONS IN THIS AREA. LATE LAST YEAR IN THE GENOMIC
HEALTHCARE COLLABORATION BRANCH HELD A MEET NOTHING
THE ERA OF GENOMIC MEDICINE THAT INCLUDED REPRESENTATIVES
OF MAJOR U.S. PHARMACY ORGANIZATIONS AND I THINK
HOWARD YOU WERE AT THE MEETING, THERE'S HIS PICTURE.
YEAH, ON THE BACK ROW, THERE HE IS.
IT DISCUSSED PHARMACIST EDUCATION IN DENATIONAL
LIBRARY OF MEDICINICS AND IDENTIFIED NUMBER OF THINGS
TO PURSUE. THE MEETING WILL BE FORTH
COME NOTHING THE FUTURE AND FINALLY I'M WINDING DOWN
HERE, THE NHGRIIs INTRAMURAL PROGRAM.
LET ME REMIND THAT YOU THE EPITHELIAL RAMURAL RESEARCH
PROGRAM IS UNDERGOING A BLUE RIBBON PANEL REVIEW.
THE LAST 1 WAS HELD ONCE A DECADE. AND WE'RE RIGHT ON
TARGET. HERE'S A PANELSHIP, AND RICK
MYERS, IS ON THE PANEL IT WAS OCCURRED LAST MONTH AND IT
WAS A GOOD KICKOFF FOR THE PROCESS AND THE FUTURE STEPS
OF THE REVIEW WAS TAKEN PLACE WITHIN A 9 MONTH INTERVAL
WILL BE A CONFERENCE CALL COMING UP LATER THIS SPRING
AND FINAL IN?PERSON MEETING THAT WILL SCHEDULE IN JULY.
SO WHERE WE'RE HEADED FOR THIS, RELEVANT THIS COUNCIL
SO I'VE DELAYED AN INTRAMURAL PROGRAM, AND DECIDES TO DELAY
IT AND WILL DELAY IT PAST MAY, WILL WAIT UNTIL
SEPTEMBER AT THE SEPTEMBER COUNCIL MEETING WE WILL HAVE
A PRESENTATION ABOUT NHGRIs RESEARCH PROGRAM ABOUT THE
SCIENTIFIC DIRECTOR AND HE'S NEW NOW, THE SCIENTIFIC
DIRECTOR AND I HAD TO PRESENT A COUNCIL YET AND WE SHOULD
WAIT UNTIL THE FALL. I WILL HAVE HIM PRESENT AND
THEN RICK MYERS WILL PRESENT THE REPORT FROM THE BLUE
RIBBON PANEL AS A MEMBER OF THAT PANEL SO WE'LL DO BOTH
OF THOSE IN SEPTEMBER. IN TERMS OF RESEARCH
HIGHLIGHTS, EPITHELIAL RAMURAL??INTRAMURAL PROGRAM.
DAN CASTENER OUR SCIENTIFIC COLLEGE WITH THE NEW ENGLAND
JOURNAL HE DID A ARTICLE ON COLD TEMPERATURES CAUSE
TRIGGERS. A CURE THIS FIND PROGVIEDED
NEW INSIGHTS ABOUT IMMUNE FUNCTION.
UDETAILSA SAMUELS REPORTED A NICE FIND NEGLIGENCE NATURE
GENETICA NEW GENE THAT'S IMPLICATE INDEED THE
PATHOGENESIS OF MELANOMA AND LEFT COLLEAGUES AT
THE??COLLEAGUES INCLUDING AT THE NIH INTRAMURAL SEQUENCING
CENTER AT THE CHILDREN'S NATIONAL MEDICAL CENTER AT
JOHNS HOPKINS UNIVERSITY IN IT REPORTED THE USE OF NEXT
GENERATION GENOME SEQUENCING TO IDENTIFY PEDIATRIC
CONDITION KNOWN AS PNHN. AT LAST MAY'S MEETING, THE
NHGRI CLINICAL DIRECTOR AND THE UNDIAGNOSED DISEASES
PROGRAM WAS 1 OF 9 FINALISTS ACROSS THE ENTIRE FEDERAL
WORKFORCE TO RECEIVE THE SAM GULE J. HYMAN SERVICE AND NOT
OHM IS HE A??ONLY IS HE A FINALIST, HE WON THE AWARD.
THEY PAY TRIBUTE TO MEMBERS OF THE FEDERAL WORKFORCE
HIGHLIGHTING THOSE WHO MADE SIGNIFICANT CONTRIBUTIONS TO
OUR COUNTRY. HONOREES ARE CHOSEN BASED ON
COMMITMENT AND INNOVATION AND IMPACT ON THE WORK AND
ADDRESSING THE NEEDS OF THE NATION AND WE'RE VERY PROUD
OF BILL AND HIS ACCOMPLISHMENTS AND
CONGRATULATIONS TO HIM. AND FINALLY I SHOULD TELL YOU
ABOUT WAI WANT TO UPDATE YOU ABOUT AND EVERYTHING I COVER
INDEED 90 SLIDES WAS TRIVIAL AS FAR AS I'M CONCERNED
BECAUSE THE HIGHLIGHT SINCE THE LAST COUNCIL MEETING
OCCURRED NOT HERE AT NIH BUT OCCURRED ON THE BASEBALL
FIELD. SO I KNOW CRIB WILSON AGREES
WITH ME, CARDINAL FANS? THIS WAS THE MOST HISTORIC
THING THAT HAPPEN INDEED THE LAST 4 MONTHS.
SO ANYWAY. NO, NO.
THIS HAPPENED. NUMBER 1 HISTORIC EVENT IN
THE LAST 4 MONTHS AND IN CLOSING 91 SLIDES I DON'T PUT
THESE TOGETHER, A WHOLE HOST OF PEOPLE, IN THE BACK AND
SIDES AND SO FORTH, ALL OF YOU, THANKS PARTICULARLY TO
CHRIS WHO IS THE PERSON COORDINATE O GBA ALL AND
MAKING IT ALL HAPPEN AND ALSO TO LARRY AND JUDY AND THE WEB
TEAM FOR GETTING THAT YOU WILL POETIC POSTED AND ALL
THE VIDEOTAPES AND EVERYTHING THAT GOES ON.
SO I WILL STOP THERE AND HAPPILY TAKE ANY QUESTIONS.
I MUST BE GETTING GOOD. I WANT TO THE GET TO THE
CARDINAL HIGHLIGHT. I WAS JUST REALLY MOTIVATED.
QUESTIONS? ONE OTHER THING, ANY OF THE
WORKSHOPS, DO YOU WANT TO TALK ABOUT THE SICKLE CELL
MEETING JILL, THE WORKING GROUPS?
PHARMACY MEETING BLUE RIBBON PANEL.
WE DON'T HAVE TO BECAUSE WE'LL COME TO THEM WITH BUT
IF THERE WAS SOMETHING YOU WANT TO SHARE?
MICROPHONE? YOU ECHOED IT LET ME ECHO IT
AGAIN, PLEASE PEOPLE RESPOND TO THE CALL FOR INFORMATION.
BECAUSE WE ARE IN NEED OF INPUT.
WE CAN SEND YOU AN E?MAIL. >> IT'S IMPORTANT TO SAY WHAT
YOU THINK ARE IMPORTANT THINGS TO BE DONE AND ALSO
IMPORTANT NOT TO BE DONE. WHAT IS POSSIBLE IS SHOULD BE
DONE, WHAT IS LIKELY IMPOSSIBLE AND EFFORT MIGHT
BE BETTER THAN SOMEWHERE ELSE.
THIS IS A CHALLENGING AREA, AND BOTH THE INTERNAL
DISCUSSION AND THE EXTERNAL DISCUSSION HAVE HAD A LOT OF
CHALLENGES OF JUST DEFINING THE SCOPE OF WHAT'S REALISTIC
AND FIBBED TAG'S PART WHAT HAVE'S REQUESTED AND SO, YET
IT'S SO VITAL FOR OUR FIELD FOR THIS INSTITUTE, IT'S
VITAL FOR NIH, OF COURSE SO YEAH, I DO??WE REALLY WOULD
HOPE PEOPLE GET ENGAGE INDEED IN PROCESS AND I'M SURE THERE
WILL BE PEOPLING COMING BACK TO THE COUNCIL ABOUT IT.
SO IT'S NO QUESTION. IT'S WORTH GETTING INVOLVED
EARLY. >> THE PRIVILEGE OF BEING AT
3 NHGRI MEETING IN 5 DAYS IN EARLY DECEMBER, WHICH IS
CAN'T FEEL AND WHETHER IT WAS THE FORMACY GROUP OR GENOME
MEDICINE CENTERS GROUP OR WHATEVER THEY CALLED THE 1 IN
BETWEEN, THE CLINE ACTION GROUP.
ALL OF THEM HA REALLY STRUCKNY IS THAT THOSE ARE A
LOT OF ENTHUSIASM ABOUT MOVING TO THE RIGHT SIDE OF
NHGRI, BUT A LOT OF PEOPLE WHO DIDN'T KNOW WHAT NHGRI
STOOD FOR AND OUTSIDE OF THAT SPACE, WHO ARE NOW STARTING
TO REALIZE THAT THERE'S SOMETHING??I THINK??I TOOK AWAY
WAS NOT ONLY DO WE HAVE TO BE MORE VISIBLE BUT REALLY
THERE'S A LOT OF NEED NOW, DISEASE SPECIFIC GROUPS NOT
SO MUCH AT NIH BUT OUT IN THE COMMUNITY, REALLY NEED A LOT
OF HELP SO IT WAS GREAT TO SEE HOW MUCH YOU'RE PRINTING
UP FOR THAT INCLUDING PEOPLE LIKE PHARMACISTS AND NURSES
AND PRACTITIONERS, ET CETERA SO THERE WILL BE MORE OF THAT
NEEDED SO WE NEED TO KEEPEUR EYE ON THAT.
>> SURE. >> ECHOING THE SAME THING FOR
THIS GENEVA ERNE CODE MEETING??ENCODE MEETING.
WE'VE KNOWN THAT LOTS OF PEOPLE WHO MIGHT BE ABLE TO
USE THE DATA DON'T KNOW ABOUT IT SO THIS IS JUST THE
INITIAL 1 AND I DON'T REMEMBER THE NUMBER OF OF
GROUPS BUT THERE WERE A LOT OF PEOPLE IN THE ROOM AND I
THINK, I THINK THEY ALL FELT??WELL I THOUGHT IT WAS
GOOD TO GET THESE 2 TOGETHER AND I HAD RESPONSES FROM SOME
OF THE GWAS, FOR PEOPLE WHO DIDN'T KNOW ABOUT ENCODE, AND
GETTING BACK TO ME AFTER THE MEETING BECAUSE THEY'RE
SAYING WE NEED TO BE ABLE TO DO THIS SO THAT NEEDS TO BE
EXPANDED DRAMATICALLY AND IT WAS VALUABLE, I THOUGHT.
>> WELL, WE WOULD ALSO LOOK TO YOUR ADVICE WHEN THERE ARE
OPPORTUNITIES TO CONNECT DIFFERENT GROUPS TOGETHER.
THAT WAS AN EXAMPLE WITH IT CAME UP 2 OUR CONSORTIUM
TOGETHER WHEN THERE ARE OTHER SITUATIONS LIKE THAT, WOO &
WE FACILITATE IT WE WILL. COUNCIL NUMBERS, EVERYBODY
KNOWS HOW THIS WAS DONE BUT THEY??NHGRI PAIRED ANALYSIS
FOLKS WITH SOME OF THE??FROM ENCODE WITH SOME OF THE FOLK
WHO IS HAD THE GWAS PROBLEMS AND THEY WORKED AHEAD OF TIME
BUT BEFORE THEY CAME TO THE WORKSHOP AND THEY WERE A
NUMBER OF THINGS THAT CERTAINLY CAME OUT OF THAT
AND THAT WAS A CLEVER WAY TO DO IT.
>> OTHER COMMENTS OR QUESTIONS?
YEAH, OKAY, SO WE'RE SCHEDULED A FOR A BREAK.
I HOPE EVERYONE'S RECEIVED MARK'S E?MAIL ABOUT FOOD.
YOU KNOW IF YOU GO 1 FLOOR UP YOU CAN GET COFFEE, SOMETHING
TO SNACK ON THERE, BE BACK NO LATER THAN 11 AND WE'LL BE
SERIES ABOUT THAT. ??SERIOUS ABOUT THIS.
??I'M SORRY, THERE'S A GLARE ON THE CLOCK.
ALL RIGHT, SO 10:00 O'CLOCK, WE HAVE ADEQUATE TIME FOR THE
PRESENTATIONS.