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Office of Genomics and Disease Prevention  
Office of Genomics and Disease Prevention
 Thursday, October 21, 2004 Volume 13   Number 17    
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 research on disease prevention and public health.


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Newborn Screening for Cystic Fibrosis
Evaluation of Benefits and Risks and Recommendations for State Newborn Screening Programs.  In November 2003, CDC and the Cystic Fibrosis Foundation cosponsored a workshop to review the benefits and risks associated with newborn screening for cystic fibrosis (CF). This report describes new research findings and outlines the recommendations of the workshop. The peer-reviewed evidence presented at the workshop supports the clinical utility of newborn screening for CF.


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Family History for the Public
Visit the new section of our website that provides information for the general public about family history and how it can be used to promote health.


Genomics In The News

Featured item
“Gene linked to greater risk of heart disease in type 2 diabetes”
(October 19) Joslin Diabetes Center reports, “New studies by an international team of scientists led by Joslin Diabetes Center have found variations in a gene that help explain why people with type 2 diabetes are at much greater risk for coronary artery disease, the leading cause of death for this group.”

“Genetic data crunching achieves milestone at Stanford”
(October 21) innovations report reports, “In the fall of 1999, the Stanford Microarray Database booted up, and a level of computing power was suddenly available to the field of molecular biology that only a few years earlier was inconceivable.”

“Boy cured by 'designer baby' cells”
(October 21) Daily Mail reports, “A six-year-old boy has been cured of a rare blood disorder after receiving blood cells from a baby brother born to save him.”

“International Human Genome Sequencing Consortium Describes Finished Human Genome Sequence”
(October 20) NIH/NHGRI report, “The International Human Genome Sequencing Consortium, led in the United States by the National Human Genome Research Institute (NHGRI) and the Department of Energy (DOE), today published its scientific description of the finished human genome sequence, reducing the estimated number of human protein-coding genes from 35,000 to only 20,000-25,000, a surprisingly low number for our species.”

“Genetic predictions may bring ‘quantum leap’ in breast cancer treatment success”
(October 20) Medical Science News reports, “Researchers at Virginia Commonwealth University ’s Massey Cancer Center received a prestigious award and a $600,000 grant from the V Foundation for Cancer Research, one of the nation’s leading organizations devoted exclusively to funding cancer research.”

“Study Reports Genetic Susceptibility to Alcoholism in NMDA Receptor”
(October 20) Yale University reports, “Receptors in the brain that are highly sensitive to alcohol may function differently in a person with a family history of alcoholism, according to a Yale study published this month.”

“Gene for Joubert Syndrome with Excessive Brain Folds Discovered By UCSD Researchers and Harvard Team”
(October 20) UCSD reports, “Researchers at the University of California , San Diego (UCSD) School of Medicine have discovered the gene for a form of Joubert Syndrome, a condition present before birth that affects an area of the brain controlling balance and coordination in about 1 in 10,000 individuals.”

“Expert Panel Offers Preliminary Report on Health Effects of Assisted Reproductive Technologies”
(October 19) Johns Hopkins Medicine reports, “Twenty-five years after the birth of the first baby conceived through in vitro fertilization (IVF), there remain many unanswered questions about the health and well-being of babies born following IVF.

“Lag-3 gene dampens immune responses by controlling regulatory T-cell function”
(October 19) St. Jude Children's Research Hospital reports, “The discovery that the Lag-3 gene acts as a brake to prevent immune system responses from running out of control solves a mystery that has puzzled researchers since the gene was discovered 14 years ago.”

“Genes can trigger or protect against alcohol dependency”
(October 19) The Boston Globe reports, “In the old days, people used to debate whether alcoholism was a disease or a moral failing.”

“Urine testing may become alternative screening test for cervical cancer”
(October 19) Medical News Today reports, “A study involving 143 women from Senegal, West Africa has shown that a simple urine test might provide an alternative to Pap screening for cervical cancer.”

“Child diabetes cases reach epidemic levels”
(October 19) Gannett News Service via reports, “Malcolm Morris was only 5 when he was diagnosed with type 1 diabetes during a school physical exam.”

“Twin's ovary beats infertility”
(October 19) BBC News reports, “A women who became infertile in her teens has become pregnant after receiving a healthy ovary from her identical twin sister.”

“Cancer Copy Gene”
(October 19) ScienCentral reports, “New clues to winning the fight against cancer and other diseases may come from the accidental discovery of large areas of ‘xeroxed’ genes that seem to code people for deadly illnesses like breast cancer.”

“Genomic factors augment TNM staging in squamous cell head and neck cancer”
(October 19) Reuters Health via OncoLink reports, “Genomic analysis of squamous cell carcinomas of the head and neck reveals a recurrent pattern of chromosomal aberrations associated with disease outcome.”

“Study helps doctors identify childhood cancer survivors at increased risk of developing breast cancer”
(October 18) Dana-Farber Cancer Institute reports, “Young women who were treated for cancer as children have a greater chance of developing breast cancer if their treatment included chest radiation, if they initially had cancer of the bones, muscles, or connective tissue, or had a family history of breast cancer, according to a new study led by researchers at Dana-Farber Cancer Institute and Children's Hospital Boston.”

“Medical Geneticists Elected to Institute of Medicine”
(October 18) NIH/NHGRI report, “Two medical geneticists from the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH), have been elected to the Institute of Medicine (IOM) of the National Academies, one of the highest honors in the fields of medicine and health, it was announced today.”

“Manipulation of Epigenome Turns Off as Many Genes as it Turns On”
(October 18) Johns Hopkins Medicine reports, “Agents believed to selectively ‘restart’ genes that limit cancer's growth -- a potential treatment option already in early clinical studies -- instead turn off as many genes as they turn on, a team of researchers from the National Cancer Institute and Johns Hopkins has discovered.”

“UCLA Scientists Discover New Way to Fix Defective A-T Gene; Findings May Apply to Cancer, Other Genetic Diseases”
(October 18) UCLA News reports, “UCLA scientists have devised a novel way to repair one of the genetic mutations that causes ataxia-telangiectasia, (A-T), a life-shortening disorder that devastates the neurological and immune systems of one in 40,000 young children.”

“Sister Study Opens Nationwide”
(October 18) NIH/NIEHS report, “A new study that will look at 50,000 sisters of women diagnosed with breast cancer opened today for enrollment across the United States.”

“Biophysicists create 'gene package' for haemophiliacs”
(October 18) reports, “In what could be a precursor to a treatment protocol for blood related diseases like haemophilia, thalassaemia and even some forms of leukemia, a biophysicist duo here has evolved a mechanism to fix affected blood cells by correcting their genetic errors.”

“China detects new human gene”
(October 18) People’s Daily Online reports, “The World Health Organization (WHO) has named the two new HLA (Human Leukocyte Antigen) alleles, newly found at the blood center of east China's Zhejiang Province this year, B* 5614 and B* 5136.”

“New baby gene test”
(October 17) Herald Sun reports, “A world-first test that detects genetic disorders in fetuses as early as six weeks has been developed by Melbourne scientists.”

“New Hope in the Fight Against Breast Cancer”
(October 16) HealthDayNews reports, “Mammograms have become a rite of passage for 40-year-old American women, and a compulsory exercise for those over 40.”

“Location of Lung Cancer Gene Found”
(October 15) The University of Texas MD Anderson Cancer Center reports, “Scientists have narrowed the search for a lung cancer gene to a small region of a chromosome, according to results of a new study.”

“Normal Cells in Tumors May Aid Cancer Growth”
(October 15) Ohio State University reports, “Normal cells that live among the cancer cells in a tumor may not be the innocent bystanders they are usually assumed to be.”

“South Dakota University Wins $16.1M NIH Grant to Study Genomics, Proteomics”
(October 15) GenomeWeb News reports, “The National Institute of Health has awarded the University of South Dakota $16.1 million to help support R&D in genomics and proteomics.”

“Urinary incontinence runs in the family”
(October 15) Medical News Today reports, “Women are more likely to develop urinary incontinence if their mother or older sisters are incontinent, finds a study from Norway in this week's BMJ.”

“Scientists identify new cause of obesity”
(October 15) UCSF reports, “A brain protein already known to play a central role in the ‘feast or fast’ signaling that controls the urge to eat has now been found to influenceappetite in a second way. The discovery identifies a potential new target for drugs against obesity.”

“ALS Nerve Fuel”
(October 15) ScienCentral reports, “New research into the cause of a rare, inherited form of Lou Gehrig's disease could offer new avenues of research to find therapies for all forms of this debilitating disease.”

“The CF Foundation Urges All States to Include Newborn Screening for CF in Test Panels”
(October 14) The CF Foundation reports, “The Cystic Fibrosis Foundation today issued a recommendation for the implementation of routine cystic fibrosis (CF) screening in all newborns.”

“NHGRI Seeks Next Generation of Sequencing Technologies”
(October 14) NIH reports, “The National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH), today announced it has awarded more than $38 million in grants to spur the development of innovative technologies designed to dramatically reduce the cost of DNA sequencing, a move aimed at broadening the applications of genomic information in medical research and health care.”

“Scientists Identify Major Molecular Pathway That Leads to Diabetes”
(October 14) Harvard School of Public Health reports, “Researchers from the Harvard School of Public Health have discovered what they believe is the fundamental mechanism within cells that links two fast-rising public health threats: obesity and Type 2 diabetes.”

“A new culprit in depression?”
(October 14) University of Michigan Health System reports, “Multi-university study finds surprising differences in gene activity in the brains of depressed people.”

Genomics in Scientific Literature

Featured item

Newborn screening for cystic fibrosis: evaluation of benefits and risks and recommendations for state newborn screening programs
Grosse SD , et al.
MMWR Recomm Rep 2004 Oct;53(RR-13):1-36

Genetics of atherosclerosis
Lusis AJ, et al.
Annu Rev Genomics Hum Genet 2004 Sep;5:189-218

Nutritional genomics
Ordovas JM & Corella D
Annu Rev Genomics Hum Genet 2004 Sep;5:71-118

Genetic screening: carriers and affected individuals
McCabe LL & McCabe ER
Annu Rev Genomics Hum Genet 2004;5:57-69

Genetic testing in primary care
Burke W
Annu Rev Genomics Hum Genet 2004;5:1-14

Genetics and public health--evolution, or revolution?
Halliday JL, et al.
J Epidemiol Community Health 2004 Nov;58(11):894-9

Implications of genetic risk information in families with a high density of bipolar disorder: an exploratory study
Meiser B, et al.
Soc Sci Med 2005 Jan;60(1):109-18

Use of unphased multilocus genotype data in indirect association studies
Clayton D, et al.
Genet Epidemiol 2004 Oct

An update on the aetiology of orofacial clefts
Wong FK & Hagg U
Hong Kong Med J 2004 Oct;10(5):331-6

TRbase: a database relating tandem repeats to disease genes for the human genome
Boby T, et al.
Bioinformatics 2004 Oct

Attitudes and beliefs concerning prostate cancer genetic screening
Doukas DJ, et al.
Clin Genet 2004 Nov;66(5):445-51

Anticipated reactions to genetic testing for hereditary non-polyposis colorectal cancer susceptibility
Brodersen N, et al.
Clin Genet 2004 Nov;66(5):437-44

Exploration of the impact of messages about genes and race on lay attitudes
Condit C, et al.
Clin Genet 2004 Nov;66(5):402-8

Haplotype analysis and identification of genes for a complex trait: examples from schizophrenia
Hennah W, et al.
Ann Med 2004;36(5):322-31

A multicenter study of supportive-expressive group therapy for women with BRCA1/BRCA2 mutations
Esplen MJ, et al.
Cancer 2004 Oct

Cytokine polymorphism and its possible impact on cancer
Jin P, et al.
Immunol Res 2004;30(2):181-90

Haemochromatosis: find them or forget about them?
Adams PC
Eur J Gastroenterol Hepatol 2004 Sep;16(9):857-8

Inherited forms of renal cell carcinoma
Kiuru M, et al.
Scand J Surg 2004;93(2):103-11

Genomic screening and complications of hematopoietic stem cell transplantation: has the time come?
Kallianpur AR
Bone Marrow Transplant 2004 Oct

HuGE Published Literature

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 20, 2004, there are HuGE articles in the following areas:

Gene Variant Frequency
Infectious and Parasitic Diseases
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
Diseases of the Musculoskeletal System and Connective Tissue
Certain Conditions Originating in the Perinatal Period
Symptoms, Signs, and Ill-defined Conditions
Injury and Poisoning

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

Upcoming Events

Featured item
new this week
February 2-6, 2005
Oncogenomics 2005: Dissecting Cancer Through Genome Research
San Diego, California

October 22-24, 2004
Bruce Ames International Symposium on Nutritional Genomics
Davis, California


October 23-26, 2004
17th Annual International Conference: Genomic Nursing in the 21st Century
Toronto, Ontario, Canada


October 23-26, 2004
Standards and Ontologies for Functional Genomics
Philadelphia, Pennsylvania


October 26-30, 2004
54th Annual Meeting of The American Society of Human Genetics
Toronto, Ontario, Canada


October 29- November 1, 2004
Transcriptional Regulation by Chromatin and RNA Polymerase II (ASBMB)
Lake Tahoe, California

new this week January 10-13, 2005
CHI Peptalk: The Protein Information Week
San Diego, California

March 17-20, 2005
American College of Medical Genetics: 2005 Annual Clinical Genetics Meeting
Dallas, Texas

new this week

July 16-19, 2005
International Academy of Cardiology 12th World Congress on Heart Disease New Trends in Research, Diagnosis and Treatment
Vancouver, B.C., Canada

Let's Go Surfing

Featured item

Genetics of Obesity
Online presentation from the University of Washington

Inside DNA
Kenneth Eward, artist, provides a glimpse of what it might be like to gaze through a strand of DNA if you were on the inside.

“Your Disease Risk” from the Harvard Center for Cancer Prevention
Estimate your risk of disease and receive personalized tips for prevention; in addition to cancer, find out your risk of four other important diseases.

NCBI Education; the NCBI service desk provides a free training course, A Field Guide to GenBank and NCBI Molecular Biology Resources.



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The CDC Office of Genomics and Disease Prevention 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.

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Last Updated October 22, 2004