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 Thursday, October 5, 2006     Volume 17   Number 14  
Genomics & Health Weekly Update Genomics & Health Weekly Update Family History Genomics & Health Weekly Update Family History Population Research Genomics in Practice General Public
 This weekly update provides information about the impact of human genetic discoveries on health care,  disease prevention and population health.
Spotlight
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image blood cells and an award

Hemochromatosis for Health Care Professionals receives the 2006 Award of Excellence for Public Health Training. This is an award for educational training program developed by CDC in collaboration with CDC partners targeting health educators and/or other public health professionals. Hemochromatosis: What every clinician and health care professional needs to know is an online

training course for primary care providers describing the pathophysiology, epidemiology, diagnosis, treatment, and management of patients with adult onset hemochromatosis.

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CDC Announcements
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bullhorn What's New in HuGENet™
October 2006
   
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New HuGE Review
Endothelial Nitric Oxide Synthase Gene Polymorphisms and Cardiovascular Diseaseyou will need a free Acrobat reader to view this file(213KB)
Casas JP, et al.
Am J Epidemiol 2006 Oct 3
   
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New HuGE Review
Meta- and Pooled Analysis of GSTT1 and Lung Cancer: A Huge-GSEC Review
you will need a free Acrobat reader to view this file(189KB)
Raimondi S, et al.
Am J Epidemiol 2006 Sep 25

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Genomics In The News
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  • The following are headlines from on-line news articles published during the past week.
  • The headlines and lead sentence are exactly as they appear in the popular press and do not necessarily reflect the opinions or recommendations of CDC.
  • Free registration required for some articles.
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Featured item
“Genetic Variation In Parkinson's Disease Study Yields Results” This reference links to a non-governmental website
(Sep 29) Science Daily reports, “Researchers at the National Institutes of Health (NIH) have completed one of the first large-scale studies of the role of common genetic variation in Parkinson's disease (PD).”

“Molecular & Genetic Alterations May Explain Racial Disparity In Breast Cancer” This reference links to a non-governmental website
(Oct 5) Medical News Today, “Molecular and genetic alterations that cause tumors and drive the course of disease may someday explain the differences in incidence and mortality between African American and European American breast cancer patients.”

“Prognosis on prostate is in the gene” This reference links to a non-governmental website
(Oct 4) Courier Mail reports, “A GENE that gives men with prostate cancer a life-saving clue about whether their disease will spread has been uncovered by Australian scientists.”

“Breakthrough by MUHC researcher has major implications” This reference links to a non-governmental website
(Oct 4) EurekAlert reports, “Eye Health Month is off to an exciting start, with the recent announcement by MUHC researcher Dr. Robert Koenekoop and his colleagues of a breakthrough discovery in the genetics of childhood blindness.”

“Gene May Offer New Lead In Cleft Lip, Palate Research” This reference links to a non-governmental website
(Oct 4) Smile-on.com reports, “The identification of a gene that, when under expressed, can cause cleft lip and palate may offer a new lead in research to prevent one of the most common birth defects worldwide.”

“Chemist's Nobel prize for gene-reading breakthrough” This reference links to a non-governmental website (last accessed 2/2008)
(Oct 4) NewScientist.com reports, “A chemist who has spent 20 years unravelling the process by which genes are “read” was today awarded the Nobel prize for chemistry.”

“Patient's Genes May Guide Antidepressant Use” (last accessed 2/2008)
(Oct 3) HealthDay News via healthfinder.gov reports, “New insights into how genes affect an individual's response to particular drugs could someday speed the effective treatment of depression, researchers say.”

“Cigarette Chemical Alters Genes, May Cause Cancer, Study Says” This reference links to a non-governmental website
(Oct. 3) Bloomberg.com reports, “A highly concentrated chemical in cigarette smoke, acrolein, alters genes and may be an important cause of lung cancer, according to a study to appear in the Proceedings of the National Academy of Sciences.”

“UVA studies potential target for skin cancer treatment” This reference links to a non-governmental website
(Oct 3) EurekAlert reports, “When normal skin cells become a melanoma tumor, they sometimes turn on genes not usually found in the skin.”

“Williams Syndrome, the brain and music” This reference links to a non-governmental website
(Oct 3)
EurekAlert reports, “Children with Williams syndrome, a rare genetic disorder, just love music and will spend hours listening to or making music.”

“Cancer Gene Activity Inhibited By Antibiotic” This reference links to a non-governmental website
(Oct 3) Medical News Today reports, “A little-known antibiotic shows early promise as an anti-cancer agent, inhibiting a gene found at higher-than-normal levels in most human tumors, according to researchers at the University of Illinois at Chicago College of Medicine.”

“Molecular atlas provides new tool for understanding estrogen-fueled breast cancer” This reference links to a non-governmental website
(Oct 2) EurekAlert reports, “Lurking in unexplored regions of the human genome are thousands of previously unknown on/off switches that may influence how the growth of breast cancer is driven by estrogen, new research by Dana-Farber Cancer Institute researchers has revealed.”

“'Gene Silencing' Discoverers Win Nobel Prize” This reference links to a non-governmental website
(Oct 2) ScienceDaily reports, “The Nobel Assembly at Karolinska Institutet has awarded The Nobel Prize in Physiology or Medicine for 2006 jointly to Andrew Z. Fire and Craig C. Mello for their discovery of ‘RNA interference -- gene silencing by double-stranded RNA.’”

“Genetic Cause Of Craniofacial Birth Defect Pinpointed By UC Davis Children's Hospital
Researcher”
This reference links to a non-governmental website
(Oct 2) Medical News Today reports, “A research team led by a UC Davis Children's Hospital scientist has identified a genetic mutation as the cause of a congenital craniofacial birth defect called cranio-lenticulo-sutural dysplasia.”

“Scientists Use Gene Signatures To Find Treatments For Cancer, Obesity And Alzheimer's
Disease”
This reference links to a non-governmental website
(Oct 2) Medical News Today reports, “In one of the most ambitious spinoffs of the human genome project, researchers at Dana-Farber Cancer Institute, Children's Hospital Boston, the Broad Institute of Harvard and MIT, and other collaborating centers have unveiled a new, systematic approach to drug discovery that matches diseases with potential treatments using a universal language based on cells' distinctive gene activity profiles, or "signatures."”

“NHGRI funds assessment of public attitudes about population-based studies on genes and environment” This reference links to a non-governmental website
(Sep 28) News-Medical.Net reports, “The National Human Genome Research Institute (NHGRI) has announced it has awarded $2 million to the Genetics and Public Policy Center of the Berman Bioethics Institute at Johns Hopkins University to conduct a public discussion about future potential large U.S. population-based studies examining the roles of genes and environment in human health.”

“Genetic links to schizophrenia focus of international study” This reference links to a non-governmental website
(Sep 28) EurekAlert reports, “The National Institute of Mental Health has awarded Roel A. Ophoff, Ph.D., assistant professor of human genetics at the David Geffen School of Medicine at UCLA, a $3.8 million grant to lead a four-year genetic study of schizophrenia in collaboration with scientists from the University Medical Center (UMC) Utrecht in the Netherlands.”

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Genomics in Scientific Literature
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Genetic susceptibility to infectious diseases: big is beautiful, but will bigger be even better?
Burgner D, et al.
Lancet Infect Dis 2006 Oct;6(10):653-63

'Genetics home reference'
Fomous C, et al.
Community Genet 2006;9(4):274-8

The genetics of health
Nadeau JH & Topol EJ
Nat Genet 2006 Oct;38(10):1095-8

Detecting genetic predisposition for complicated clinical outcomes after burn injury
Barber RC, et al.
Burns 2006 Nov;32(7):821-7

Warriors Versus Worriers: The Role of COMT Gene Variants
Stein DJ, et al.
CNS Spectr 2006 Oct;11(10):745-8

ASCO/SSO review of current role of risk-reducing surgery in common hereditary cancer syndromes
Guillem JG, et al.
J Clin Oncol 2006 Oct;24(28):4642-60

The Code of Ethics of The National Society of Genetic Counselors
J Genet Couns 2006 Sep

Code of Ethics of the National Society of Genetic Counselors: Explication of Revisions
Bennett RL, et al.
J Genet Couns 2006 Sep

Constraints for genetic association studies imposed by attributable fraction and familial risk
Hemminki K & Lorenzo Bermejo J
Carcinogenesis 2006 Sep

Risk of iron overload in carriers of genetic mutations associated with hereditary haemochromatosis: UK Food Standards Agency workshop
Singh M, et al.
Br J Nutr 2006 Oct;96(4):770-3

Genetic education for non-geneticist health professionals
Harris R, et al.
Community Genet 2006;9(4):224-6

Genetics in health research and public health
Brand A & Brand H
Bundesgesundheitsblatt Gesundheitsforschung  2006 Oct

Integration of genetic factors into epidemiological studies
Bammann K & Wawro N
Bundesgesundheitsblatt Gesundheitsforschung  2006 Oct

Genetic diagnosis in medicine. An overview of basic concepts and applications
Schmidtke J
Bundesgesundheitsblatt Gesundheitsforschung  2006 Oct

Family History
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“New Gene Linked To Bipolar Disorder” This reference links to a non-governmental website
(Oct 3) eMaxHealth reports, “A new gene linked to both depression and bipolar disorder has been identified by UCL (University College London) and Danish researchers.”

“A Genetic Tendency Towards Brain Infection” This reference links to a non-governmental website
(Oct 2) Medical News Today reports, “Might some infectious diseases run in families because one inherits susceptibility to them?”

“Mom-to-Daughter Gene May Help Spur Schizophrenia” This reference links to a non-governmental website (last accessed 2/2008)
(Sep 29) HealthDay News via Southwest Solutions reports, “Daughters with a specific immune gene that too closely resembles their mother's version of the gene are more likely to develop schizophrenia later in life, new research shows.”

“Computer Model Predicts Colon Cancer Inheritable Genetic Defects” This reference links to a non-governmental website
(Sep 28) Science Daily reports, “Researchers from the Johns Hopkins University and other institutions have developed a new prediction model for genetic defects known as Lynch syndrome, which predisposes families to develop colorectal cancer.”

Population screening for colorectal cancer
Drug Ther Bull 2006 Sep;44(9):65-8

Spiritual Coping, Family History, and Perceived Risk for Breast Cancer-Can We Make Sense of it?
Quillin JM, et al.
J Genet Couns 2006 Sep

Influence of family history and lifestyle on blood pressure and heart rate in young adults in Jordan
Al-Safi SA, et al.
Public Health 2006 Sep

Association of a positive family history with histopathology and clinical course in early-onset prostate cancer
Herkommer K, et al.
Urologe A 2006 Sep

Family history and risk of lung cancer: age-at-diagnosis in cases and first-degree relatives
Cassidy A, et al.
Br J Cancer 2006 Sep

Prediction of MLH1 and MSH2 mutations in Lynch syndrome
Balmana J, et al.
JAMA 2006 Sep;296(12):1469-78

Expanding the definition of a positive family history for early-onset coronary heart disease
Scheuner MT, et al.
Genet Med 2006 Aug;8(8):491-501

Impact of familial and hereditary prostate cancer on cancer specific survival after radical retropubic prostatectomy
Siddiqui SA, et al.
J Urol 2006 Sep;176(3):1118-21

Phospholamban r14 deletion results in late-onset, mild, hereditary dilated cardiomyopathy
Dewitt MM, et al.
J Am Coll Cardiol 2006 Oct;48(7):1396-8

Genetic Testing
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“The Genetic Signature Of Diseases: The Future Of Diagnostics” This reference links to a non-governmental website
(Oct 2)Medical News Today reports, “Most of the DNA genomic sequences of organisms are now known, however those of some organisms continue to be the focus of ongoing scientific research throughout the world.”

Prediction of germline mutations and cancer risk in the Lynch syndrome
Chen S, et al.
JAMA 2006 Sep;296(12):1479-87

Genetic testing oversight
Hudson KL
Science 2006 Sep;313(5795):1853

Screening for sickle cell disease on dried blood: a new approach evaluated on 27,000 Belgian newborns
Boemer F, et al.
J Med Screen 2006;13(3):132-6

Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up
Gardner P, et al.
Pediatrics 2006 Sep;118(3):985-94

Neonatal screening for cystic fibrosis does not affect time to first infection with Pseudomonas aeruginosa
Baussano I, et al.
Pediatrics 2006 Sep;118(3):888-95

Economic evaluation of the familial cancer programme in Western Australia: predictive genetic testing for familial adenomatous polyposis and hereditary non-polyposis colorectal carcinoma
Breheny N, et al.
Community Genet 2006;9(2):98-106

Evaluation of models to predict BRCA germline mutations
Kang HH, et al.
Br J Cancer 2006 Oct;95(7):914-20

Primary care physicians' knowledge, attitudes, and practices related to newborn hearing screening
Moeller MP, et al.
Pediatrics 2006 Oct;118(4):1357-70

Immunoreactive Trypsin/DNA Newborn Screening for Cystic Fibrosis: Should the R117H Variant Be Included in CFTR Mutation Panels?
Scotet V, et al.
Pediatrics 2006 Oct

Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis
Keiles S & Kammesheidt A
Pancreas 2006 Oct;33(3):221-7

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HuGE Published Literature
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Articles that report on population prevalence of genotypes, gene-disease associations, gene-environment and gene-gene interactions and evaluation of genetic tests. For more information on HuGE, please visit the HuGENet™ home page

For the week ending October 4, 2006, there are HuGE articles in the following areas:

Gene Variant Frequency
Infectious and Parasitic Diseases
Neoplasms
Endocrine, Nutritional and Metabolic Diseases
Diseases of the Blood and Blood-Forming Organs Disorders
Mental Disorders
Diseases of the Nervous System and Sense Organs
Diseases of the Circulatory System
Diseases of the Respiratory System
Diseases of the Digestive System
Diseases of the Genitourinary System
Complications of Pregnancy, Childbirth, and the Puerperium
Diseases of the Skin and Subcutaneous Tissue
Diseases of the Musculoskeletal System and Connective Tissue
Congenital Anomalies

For more information on HuGE, please visit the HuGENet™ home page

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Upcoming Events
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HuGENet Workshop: Assessment of cumulative evidence on genetic associations This reference links to a non-governmental website
November 9-10, 2006 ~ Venice, Italy

 

International Congress of Immunogenomics and Immunomics This reference links to a non-governmental website (last accessed 2/2008)
October 8-12, 2006 ~ Budapest, Hungary

   
  Genomes, Medicine, and the Environment Conference
October 16-18, 2006 ~ Hilton Head, SC
   
  Genome-Wide Association Studies: Design and Analysis This reference links to a non-governmental website
October 26-27, 2006 ~ New Haven, CT
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Let's Go Surfing
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Nuclear Protein Database (NPD) This reference links to a non-governmental website
The Nuclear Protein Database is a searchable database of information on proteins that are localized to the nucleus of vertebrate cells.

Biovisions at Harvard Inner Life of a Cell This reference links to a non-governmental website
Xvivo animation team worked with Harvard faculty to create this three minute excerpt of an eight minute video illustrating the mechanisms that allow a white blood cell to sense its surroundings and respond to an external stimulus. (Note: This is a video presentation. You will need the latest version of Flash player to view this video).

The Genetics of Glaucoma This reference links to a non-governmental website
The discovery of glaucoma genes and the proteins they produce aids in understanding the pathophysiology of this complex group of diseases.

 

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The CDC National Office of Public Health Genomics makes available the above information as a public service only. Providing
this information does not constitute endorsement by the CDC.  Note that some links may become invalid over time.

 
This reference links to a non-governmental website
 Provides link to non-governmental sites and does not necessarily represent the views of the Centers for  Disease Control and Prevention.
Page last reviewed: October 5, 2006 (archived document)
Page last updated: November 2, 2007
Content Source: National Office of Public Health Genomics