Communication for the Heartland Regional Genetics Group


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Communication for the Heartland Regional Genetics Group <[log in to unmask]>
"Williamson, Lori L. (HSC)" <[log in to unmask]>
Thu, 20 Sep 2007 08:37:59 -0500
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Communication for the Heartland Regional Genetics Group <[log in to unmask]>
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Lori Williamson, MS, CGC

-----Original Message-----
From: [nsgc-list] Wendy Uhlmann [mailto:[log in to unmask]] 
Sent: Tuesday, September 18, 2007 10:25 AM
To: Williamson, Lori L. (HSC)
Subject: Summary of Genome Meeting - NACHGR

Dear Colleagues:

I have embedded in this e-mail a report of last week's National
Advisory Council for Human Genome Research meeting.  It's interesting to
see all of the different projects that have arisen from the Human Genome
Project and resulting policy issues regarding privacy and access to
data. There was also an update on the ELSI (Ethical, Legal and Social
Implications) program. You can download pertinent articles at
www.genome.gov/26022701 and Dr. Francis Collins report at

Wendy R. Uhlmann, MS, CGC
NSGC Liaison to NACHGR 

Dear Colleagues:

The National Advisory Council for Human Genome Research (NACHGR) met on
September 10, 2007.  You can download the agenda at
www.genome.gov/26022701 and Dr. Francis Collins* Director*s
Report (which links to several pertinent articles and press releases at
www.genome.gov/26022703 .

Some Highlights:
- USA Today named Francis Collins and Craig Venter, in the top 5 of 25
individuals who have been the most influential people of the past 25
years: www.usatoday.com/news/top25-influential.htm?csp=34 
- The prestigious Gruber Prize has been awarded to geneticist, Dr.
Maynard Olson www.petergruberfoundation.org/GruberPrizes/Genetics.php 

- The ENCODE (ENCyclopedia of DNA Elements) Consortium reported results
of its 4-year effort to build a parts list of all biologically
functional elements in 1% of the human genome in the June 14 issue of
Nature and 28 companion papers in the June issue of Genome Research.
Some key findings: 1) Genome contains very little unused sequences 2)
Approximately half of functional elements are not constrained by
evolution 3) Numerous start sites for DNA transcription identified 4)
Regulatory sequences are as likely to be located downstream of a
transcription start site as upstream 5) Identification of specific
signatures of change in histones and correlation with different genomic
functions 6) further understanding of how DNA replication is coordinated
by modifications in histones www.genome.gov/2552155. The ENCODE database
is freely accessible at http://research.nhgri.hih.gov/ENCODEdb 

- Genetic Association Information Network (GAIN), a public-private
partnership established to investigate the genetic basis of common
diseases though genome-wide association studies, published in the
September issue of Nature Genetics their policies on project selection,
data analysis and access:
 Some of these policies have been more widely adopted at NIH. Initial
GAIN research has focused on ADHD, diabetic neuropathy, major depressive
disorder, schizophrenia, bipolar and psoriasis.

- The NIH has established Policy for Sharing of Data Obtained in NIH
Supported or Conducted Genome-Wide Association Studies (GWAS).  The
policy addresses 1) data repository and data submission 2) data access
and sharing procedures 3) publication 4) intellectual property and 5)
issues regarding the protection of research participants through all
phases of GWAS: 

- NIH announced the first projects to be funded by the Genes,
Environment and Health Initiative (GEI), a collaboration between
geneticists and environmental scientists.  Genome-wide association
studies (GWAS) and new technologies to measure environmental components
will be used to study common conditions including coronary heart
disease, type 2 diabetes, lung cancer, oral clefts, tooth decay,
prematurity, addiction and maternal metabolism-birth weight
interactions. www.genome.gov/26022424 
In addition to these 8 genome-wide association studies, NIH will also
fund 2 genotyping centers, a coordinating center and 34 environmental
technology projects.  Data from these studies will be deposited in dbGaP
(Database of Genotypes and Phenotyes):

- Multiplex Initiative launched to study how healthy young adults
decide about genetic tests and make use of results.  Multiplex test will
detect variants for type 2 diabetes, coronary heart disease, high
cholesterol, high blood pressure, osteoporosis, lung cancer, colorectal
cancer and malignant melanoma. www.genome.gov/25521052 

- NHGRI announced new funding to establish a Center of Excellence in
Genomic Science (CEGS) at the Dana-Farber Cancer Institute and continued
center funding at Stanford University www.genome.gov/26022510 

-New research has shown the feasibility of knocking out all genes in
the zebrafish genome which will likely pave the way for developing a
comprehensive zebrafish knockout bank. www.genome.gov/25522120 
- NIH awarded nearly $5 million to fund repository for Knockout Mouse
Project. www.genome.gov/25521840 
- NIH has awarded $3.4 million in grants to support the development of
innovative technologies to study the genomic underpinnings of cancer as
part of The Cancer Genome Atlas (TCGA) project www.genome.gov/25521889 
The tumors studied include brain cancer, ovarian and lung cancer.

- NIH Roadmap 1.5 Projects: Human Microbiome Project (characterize
microbes that inhabit the human body):

Initiative on Epigenomics (origins of health and susceptibility to
disease are thought in part to be the result of epigenetic regulation of
the genome).

DNA Sequencing Update
- A comprehensive list on the status of the sequencing of different
organisms can be found at:
- In August, NHGRI awarded more than $15 million in grants to develop
more efficient and cost-effective tools for DNA sequencing. The goal is
to reduce the cost of sequencing mammalian-sized genomes to $100,000 and
ultimately to $1,000 or less. www.genome.gov/25522229 

ELSI (Ethical, Legal and Social Implications) Research Program
The ELSI R01 program, based on the ELSI Grand Challenges identified in
the 2003 Vision for the Future of Genomics Research (Nature 422,
835-847), expired in January 2007.  While a new R01 Program announcement
is developed, applications are being accepted under NIH-wide R03 and R01
announcements.  A new process is being proposed to identify and update
ELSI research priorities in order that new issues will be identified
quickly, taken to Council for approval and placed on the website to
notify the community:
. This will enable new ELSI research priorities raised by the emerging
science to be efficiently and effectively communicated to the community
and for RFAs to be developed to stimulate further research.  The EAP
(ELSI Assessment Program) has been initiated to look globally at the
ELSI program.  A Concept Clearance was presented for an RFA for ELSI
Studies of Recent Positive Natural Selection in the Human Genome:

- The Community Genetics Forum, sponsored by NHGRI, is held annually,
with the key goal of community engagement around genetics issues. 
University of Michigan was selected to host the third forum, which will
be held in October 2007 and include video conferencing hookups in
Minnesota, Missouri, Iowa and Illinois. www.genome.gov/19518473 

- Planning is underway for a State-of-the-Science Conference at NIH on
the use of family health history as a screening tool in primary care.

Articles of Interest:
- Identifiability in Genomic Research (co-authored by Dr. Francis
Collins) in Science August 3, 2007 issue:

 - US Genetics Bill Blocked Again, published in Nature, August 9, 2007

- Mouse Model Points to Possible New Strategy for Treating Rare Muscle
Disease, Kidney Disorders. Research with transgenic mice has led to an
approach that will be applied in individuals with hereditary inclusion
body myopathy (HIBM): www.genome.gov/25521354 

Wendy R. Uhlmann, MS, CGC
NSGC Liaison to National Advisory Council for Human Genome Research

Wendy R. Uhlmann, MS, CGC
University of Michigan
Division of Molecular Medicine & Genetics
300 North Ingalls 
NI3 A03, Box 0419
Ann Arbor, MI  48109-0419
Phone: (734) 763-2532
Fax: (734) 763-7672
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