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Office of Genomics and Disease Prevention  
Office of Genomics and Disease Prevention
       
 Thursday, October 14, 2004 Volume 13   Number 16    
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.
 

Spotlight
     
 

computer screen with new weekly update design

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.

Announcements

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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
“Childhood Leukemia Gene Found in Study”
(October 7) Reuters reports, “Researchers have discovered a genetic mutation that causes an aggressive form of childhood leukemia and said on Thursday it may mean that drugs being developed for Alzheimer's disease could also provide a better treatment for the cancer.”

“Researchers Isolate Key Genes in Smokers”
(October 13) Doctor’s Guide reports, “Researchers from the University of Pennsylvania have developed genetic algorithms that will help them determine whether an individual patient has advanced cancer that spread from the head and neck to the lung, or whether the patient has other metastatic sources that may be treated individually.”

“Study Using Robotic Microscope Shows How Mutant Huntington's Disease Protein Affects Neurons”
(October 13) National Institute of Neurological Disorders and Stroke reports, “Using a specially designed robotic microscope to study cultured cells, researchers have found evidence that abnormal protein clumps called inclusion bodies in neurons from people with Huntington's disease (HD) prevent cell death.”

“Ethical issues in identifying and recruiting participants for familial genetic research”
(October 13) American Journal of Medical Genetics via PubMed reports, “Family-based research is essential to understanding the genetic and environmental etiology of human disease.”

“UCal Davis Opens Genome and Biomedical Sciences Facility”
(October 13) GenomeWeb News reports, “The University of California, Davis, opened its new Genome and Biomedical Sciences Facility today, the University announced.”

“Duke Genome Institute Grant Will Further Cancer Biology and Treatment”
(October 13) dBusnessNews reports, “The National Cancer Institute (NCI), part of the National Institutes of Health (NIH), announced $14.9 million in funding for a new Integrative Cancer Biology Program (ICBP).”

“Genetic discovery may hold clues to the development of many cases of the most common cancers”
(October 12) Medical Science News reports, “In a study published in Nature Genetics today, a team of scientists at The Institute of Cancer Research have discovered a gene that may hold clues to the development of many cases of the most common cancers including lung, breast, prostate and colon cancers.”

“Computer Program Predicts Genetic Cancer Risk In Women”
(October 12) Health Talk reports, “Cancer Research UK scientists have developed a computer program that can predict genetic susceptibility to breast and ovarian cancer with unprecedented accuracy.”

“Researchers Use Emerging Technology To Study Human Genome”
(October 12) InformationWeek reports, “DNA is about as personal as you can get.”

“New method identifies chromosome changes in malignant cells”
(October 12) Princeton University via innovations report reports, “In a boost to cancer research, Princeton scientists have invented a fast and reliable method for identifying alterations to chromosomes that occur when cells become malignant.”

“Baylor College Wins $4.5M from NIH to Study Genetics of Epilepsy”
(October 12) GenomeWeb News reports, “Researchers at Baylor College of Medicine have received $4.5 million from the NIH to study the genetics of epilepsy, Baylor College said last month.”

“Gene therapy offers hope for epileptics
(October 12) The New Zealand Herald reports, “Gene therapy developed at Auckland University is providing hope for people suffering from a drug-resistant form of epilepsy.”

“Patients have yet to benefit much from human genome revolution”
(October 11) Knight Ridder Washington Bureau reports, “Thousands of scientists labored, at a cost of billions of dollars, to decipher the human genome, but so far their efforts have made little change in health care, a panel of experts reported.”

“Hunt for Autism Genes to be Led by Hopkins Researchers; NIMH Grant Launches Comprehensive Search”
(October 11) Johns Hopkins Medicine reports, “With a three-year, $3.2 million grant from the National Institute of Mental Health, Johns Hopkins scientists will lead the largest hunt for genetic contributors to autism, a neuropsychiatric condition whose causes are almost as mysterious today as when the condition was first described in 1943.”

“Genetic tests, counseling offered at fair”
(October 11) Sun-Sentinel.com reports, “A cherry-red spot in the back of her eye announced that Nicole Friedland probably would not live past age 5.”

“Support groups aid women with ‘breast cancer gene mutations’”
(October 11) John Wiley & Sons, Inc. via innovations report reports, “A new study finds support groups can relieve the anxiety and depression associated with carrying BRCA1 or 2 gene mutations, the so-called ‘cancer genes.’”

“Chip Spots DNA Electrochemically”
(October 11) Technology Review reports, “DNA chips contain arrays of DNA fragments, or probes, that bind to target DNA strands in order to spot the genetic fingerprints of disease-causing mutations or microbes.”

“Genetic link to risky pregnancy”
(October 11) Journal of Experimental Medicine via EurekAlert reports, “When a particular combination of proteins is expressed by a mother and her developing fetus, the risk of developing preeclampsia increases, according to a study by Hiby and colleagues in the Oct 18 issue of The Journal of Experimental Medicine.”

“The Genome in Black and White (and Gray)”
(October 10) The New York Times reports, “Imagine that you have heart failure.”

“Marijuana Abuse Affected by Genes and Environment”
(October 10) Reuters Health via Macon Area Online reports, “Previous research has established a moderate relationship between marijuana abuse and depressive disorders.”

“DNA screening helps diagnose iron disease”
(October 8) ABC News Online reports, “Researchers into a common iron disease say a study has found clear benefits in genetic testing.”

“Study Lays Down Genetic Basis for Sinus Disease and Nasal Polyps”
(October 8) Johns Hopkins Medicine reports, “In a three-year analysis of more than 10,500 genes, one-third of the human genome, researchers at Johns Hopkins have found a starting point to establishing the genetic basis for sinus disease and the growth of nasal polyps, illnesses not well understood despite their prevalence.”

“Doctors have pieces, but disease still puzzles”
(October 8) Chicago Tribune via DuluthNewsTribune.com reports, “The air they breathe is clean, their neighborhoods are safe, their schools are top-notch and their medical needs are taken care of by the Mayo Clinic or the Olmsted Medical Center .”

“Study describes basic mechanism in cell growth control involving damaged DNA”
(October 8) University of North Carolina School of Medicine via EurekAlert reports, “As interactions of cellular proteins increasingly take center stage in basic biomedical research, studies are revealing a complex molecular choreography with implications for human health and disease.”

“Two genes distinguish lung cancer from normal tissue”
(October 8) Reuters Health via OncoLink reports, “The ratio of two genes that are expressed only in normal or neoplastic lung cells is highly sensitive and specific for the identification of tumors, German researchers report in a new study.”

“Rheumatoid arthritis results from a combination of genetic susceptibility and environmental triggers”
(October 7) Medical Science News reports, “Recently, a team of researchers in Sweden set out to investigate the interaction of two specific risk factors: the presence of a gene encoding protein sequence called the shared epitope (SE), the major genetic risk factor so far defined for RA, and cigarette smoking.”

“New Genomic, Proteomic Tools Yield Clues To Exercise/Diet Effects On Obesity, Metabolic Syndrome And Diabetes Progression”
(October 6) The American Physiological Society reports, “Applying the latest genomic and proteomic techniques has given researchers new clues for the interaction between exercise and diet, glucose metabolism and improvement in cardiovascular disease (CVD) risk factors.”

“NIH awards Emory and Georgia Tech $10 million for partnerships in cancer nanotechnology”
(October 6) Emory University Health Sciences Center via EurekAlert reports, “The National Institutes of Health (NIH) has awarded scientists from Emory University and the Georgia Institute of Technology two new collaborative research grants, totaling nearly $10 million, to establish a multidisciplinary research program in cancer nanotechnology and to develop a new class of nanoparticles for molecular and cellular imaging.”

 
Genomics in Scientific Literature

Featured item

Advances in pharmacogenomics and individualized drug therapy: exciting challenges that lie ahead
Nebert DW & Vesell ES
Eur J Pharmacol 2004 Oct;500(1-3):267-80

Gaucher disease type 1: Revised recommendations on evaluations and monitoring for adult patients
Weinreb NJ , et al.
Semin Hematol 2004 Oct;41(4 Suppl 2):15-22

Robustness of case-control studies of genetic factors to population stratification: magnitude of bias and type I error
Khlat M, et al.
Cancer Epidemiol Biomarkers Prev 2004 Oct;13(10):1660-4

The sudden infant death syndrome gene: does it exist?
Opdal SH & Rognum TO
Pediatrics 2004 Oct;114(4):e506-12

Recent advances in understanding haemochromatosis: a transition state
Robson KJ, et al.
J Med Genet 2004 Oct;41(10):721-30

Harnessing the potential of cancer genetics in healthcare .
Pichert G
Lancet Oncol 2004 Oct;5(10):626-32

Colorectal cancer and inherited mutations in base-excision repair
Chow E, et al.
Lancet Oncol 2004 Oct;5(10):600-6

Advances in pharmacogenomics and individualized drug therapy: exciting challenges that lie ahead
Nebert DW & Vesell ES
Eur J Pharmacol 2004 Oct;500(1-3):267-80

Human Genetics and Responses to Influenza Vaccination : Clinical Implications
Lambkin R, et al.
Am J Pharmacogenomics 2004;4(5):293-8

Factor V Leiden: association with venous thromboembolism in pregnancy and screening issues
Harvey D & Lowe GM
Br J Biomed Sci 2004;61(3):157-64

Genetic Susceptibility to Sepsis: A Possible Role for Mannose-binding Lectin
Garred P & Madsen HO
Curr Infect Dis Rep 2004 Oct;6(5):367-73

Are There Genetic Influences on Sporadic Brain Arteriovenous Malformations?
Young WL & Yang GY
Stroke 2004 Oct

Predictive genetic testing in young people: When is it appropriate?
Duncan R
J Paediatr Child Health 2004 Nov;40(11):593-5

Toward the pharmacogenomics of cystic fibrosis - an update
Sangiuolo F, et al.
Pharmacogenomics 2004 Oct;5(7):861-78

Pharmacogenetics of irinotecan toxicity
Marsh S & McLeod HL
Pharmacogenomics 2004 Oct;5(7):835-43

Pharmacogenetics of methotrexate
Krajinovic M & Moghrabi A
Pharmacogenomics 2004 Oct;5(7):819-34

Pharmacogenomics and drug response in cardiovascular disorders
Siest G, et al.
Pharmacogenomics 2004 Oct;5(7):779-802

Family and population strategies for screening and counselling of inherited cardiac arrhythmias
van Langen IM, et al.
Ann Med 2004;36 Suppl 1:116-24

Beta-adrenergic receptor polymorphism in human cardiovascular disease
Leineweber K
Ann Med 2004;36 Suppl 1:64-9

Concerns over Participation in Genetic Research among Malay-Muslims, Chinese and Indians in Singapore: A Focus Group Study
Wong ML, et al.
Community Genet 2004;7(1):44-54

Public Experiences, Knowledge and Expectations about Medical Genetics and the Use of Genetic Information
Henneman L, et al.
Community Genet 2004;7(1):33-43

Effects of individual and family functioning on interest in genetic testing
Bowen DJ, et al.
Community Genet 2004;7(1):25-32

Family Communication about Genetic Risk: The Little That Is Known
Wilson BJ, et al.
Community Genet 2004;7(1):15-24

 
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 13, 2004, 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 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
October 18-19, 2004
Secretary’s Advisory Committee on Genetics, Health, and Society Meeting
Bethesda, Maryland
  October 15-16, 2004
10th Annual Perspectives in Breast Cancer
Boston, Massachusetts
   
 

October 15-20, 2004
2nd International Conference on Pathways, Networks, and Systems: Theory and Experiments
Aldemar: Knossos Royal Village - Crete, Greece

   
  October 16-19, 2004
EMBL/EMBo 2nd Symposium: Functional Genomics; Exploring the Edges of Omics
Heidelberg, Germany
   
 

October 16-20, 2004
Frontiers in Cancer Prevention Research
Seattle, Washington

   
  October 17-22, 2004
12th International Biotechnology Symposium and Exhibition: Engineering of Proteins, Genes and Cells
Santiago, Chile
   
  October 18, 2004
The Secretary's Advisory Committee on Genetics, Health, and Society Hearing on Genetic Discrimination
Bethesda , Maryland
   
new this week November 6-11, 2004
Short Course on Gene Microarray Development and Analysis: Approaches to Heart, Lung, Blood and Sleep Disorders
Bar Harbor, Maine
   
new this week November 9, 2004
NIH-NSF to Convene Interagency Conference on Life and Physical Sciences - “Research at the Interface of the Life and Physical Sciences: Bridging the Sciences”
Bethesda, Maryland
 
Let's Go Surfing

Featured item
Harvey Institute for Human Genetics
Genetic Services in a Community Hospital Setting

Catalogue Of Somatic Mutations In Cancer (COSMIC)
From The Wellcome Trust Sanger Institute - “COSMIC is designed to store and display somatic mutation information and related details and contains information relating to human cancers.”

The National Human Genome Research Institute (NHGRI)
Offers a multimedia glossary of genetic terms, complete with definitions in print and audio, as well as downloadable illustrations, in Spanish (Glosario de Términos Genéticos)

 

 

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Last Updated October 20, 2004