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Health and Medical Guide to Genetics vs. Birth Defects

Newborn Screening

Health information topics about Newborn Screening:

Dictionaries/Glossaries

    1. Glossary
    Children's Health Care System, Seattle
    http://www.genetests.org/servlet/access?qry=ALLTERMS&db=genestar&fcn=term&g...

Directories

    1. State Map Page
    National Newborn Screening and Genetics Resource Center
    http://genes-r-us.uthscsa.edu/resources/consumer/statemap.htm

    2. Laboratory Directory-GeneReviews
    Children's Health Care System, Seattle
    http://www.genetests.org/servlet/access?id=8888891&key=xW0l31Z2a4hTc&fcn=y&...

Genetics

    1. Genetics Home Reference: Homocystinuria
    National Library of Medicine
    http://ghr.nlm.nih.gov/condition=homocystinuria

    2. Genetics Home Reference: Sickle cell anemia
    National Library of Medicine
    http://ghr.nlm.nih.gov/condition=sicklecellanemia

    3. Genetics Home Reference: Long-chain 3-hydroxyacyl-
    National Library of Medicine
    http://ghr.nlm.nih.gov/condition=longchain3hydroxyacylcoenzymeadehydrogenas...

    4. Genetics Home Reference: Maple syrup urine disease
    National Library of Medicine
    http://ghr.nlm.nih.gov/condition=maplesyrupurinedisease

    5. Genetics Home Reference: Medium-chain acyl-coenzym
    National Library of Medicine
    http://ghr.nlm.nih.gov/condition=mediumchainacylcoenzymeadehydrogenasedefic...

    6. Genetics Home Reference: Isovaleric acidemia
    National Library of Medicine
    http://ghr.nlm.nih.gov/condition=isovalericacidemia

    7. Genetics Home Reference: Methylmalonic acidemia
    National Library of Medicine
    http://ghr.nlm.nih.gov/condition=methylmalonicacidemia

    8. Genetics Home Reference: Mitochondrial trifunction
    National Library of Medicine
    http://ghr.nlm.nih.gov/condition=mitochondrialtrifunctionalproteindeficienc...

    9. Genetics Home Reference: Phenylketonuria
    National Library of Medicine
    http://ghr.nlm.nih.gov/condition=phenylketonuria

    10. Genetics Home Reference: Glucose-6-phosphate dehyd
    National Library of Medicine
    http://ghr.nlm.nih.gov/condition=glucose6phosphatedehydrogenasedeficiency

    11. Genetics Home Reference: Galactosemia
    National Library of Medicine
    http://ghr.nlm.nih.gov/condition=galactosemia

    12. Genetics Home Reference: Cystic fibrosis
    National Library of Medicine
    http://ghr.nlm.nih.gov/condition=cysticfibrosis

    13. Genetics Home Reference: Very long-chain acyl-coen
    National Library of Medicine
    http://ghr.nlm.nih.gov/condition=verylongchainacylcoenzymeadehydrogenasedef...

    14. Genetics Home Reference: 21-hydroxylase deficiency
    National Library of Medicine
    http://ghr.nlm.nih.gov/condition=21hydroxylasedeficiency

    15. Genetics Home Reference: Argininosuccinic aciduria
    National Library of Medicine
    http://ghr.nlm.nih.gov/condition=argininosuccinicaciduria

    16. Genetics Home Reference: Biotinidase deficiency
    National Library of Medicine
    http://ghr.nlm.nih.gov/condition=biotinidasedeficiency

    17. Genetics Home Reference: Congenital hypothyroidism
    National Library of Medicine
    http://ghr.nlm.nih.gov/condition=congenitalhypothyroidism

    18. Genetics Home Reference: Propionic acidemia
    National Library of Medicine
    http://ghr.nlm.nih.gov/condition=propionicacidemia

Organizations

    1. March of Dimes Birth Defects Foundation

    http://www.marchofdimes.com/

    2. National Human Genome Research Institute

    http://www.genome.gov/

    3. National Newborn Screening and Genetics Resource C

    http://genes-r-us.uthscsa.edu/

    4. Save Babies Through Screening Foundation

    http://www.savebabies.org/

Overviews

    1. Newborn Screening Tests
    Mayo Foundation for Medical Education and Research
    http://www.mayoclinic.com/invoke.cfm?id=PR00070

    2. Newborn Screening Tests
    March of Dimes Birth Defects Foundation
    http://www.marchofdimes.com/pnhec/298_834.asp

    3. Newborn Screening Tests
    Nemours Foundation
    http://kidshealth.org/parent/system/medical/newborn_screening_tests.html

Related Issues

    1. Where to Get Supplemental Screening
    Save Babies Through Screening Foundation
    http://www.savebabies.org/NBS/snbs.php

    2. Newborn Screening (NBS): Answers to Frequently Ask
    Save Babies Through Screening Foundation
    http://www.savebabies.org/NBS/faq.php

    3. National Newborn Screening Status Reports
    National Newborn Screening and Genetics Resource Center
    http://genes-r-us.uthscsa.edu/nbsdisorders.pdf

    4. Layperson's Guide to Tandem Mass Spectrometry
    Save Babies Through Screening Foundation
    http://www.savebabies.org/NBS/msms-chace.php

    5. Disease Descriptions
    Save Babies Through Screening Foundation
    http://www.savebabies.org/diseasedescriptions.php


 



Genetics News From Medical News Today
Latest Health News and Medical News posted throughout the day, every day.

29 Jul 2010 at 5:00am
Ever notice some people seem to eat anything they want and never gain a pound, while others seem to gain weight just by looking at fattening foods? You may be seeing things correctly after all. According to research published in the July 2010 issue of Genetics, this may have a biological cause...
29 Jul 2010 at 4:00am
An accurate, faster testing option to identify female carriers and other patients with genetic abnormalities that cause Fragile X Syndrome is now available to physicians in all fifty states with the recent approval in New York. Fragile X is the leading cause of inherited mental retardation and the most common known single gene cause of autism...
29 Jul 2010 at 2:00am
In biology and genetics, the concept of epistasis is what gives rise to the whole being more (or less) than the sum of its parts. The quantitative effect of a given mutation upon the traits of an organism has the potential to depend strongly upon the gene versions present in other parts of the genome, or even other mutations co-occurring in that gene...
29 Jul 2010 at 2:00am
Research co-authored by Viral Genetics, Inc., (Pink Sheets: VRAL) lead scientist Dr. M. Karen Newell has been published in the peer-reviewed Journal of Leukocyte Biology (JLB). Newell's article identifies a potential mechanism that promotes chronic inflammation, a characteristic of most autoimmune diseases. Viral Genetics has been pursing treatments for Lyme Disease and HIV/AIDS...
28 Jul 2010 at 7:00am
A Florida State University biochemist who studies a group of proteins linked to several inherited diseases has received a major grant to advance his research toward a better understanding of cellular secretion, which is linked to a wide range of diseases. That research could one day lead to new treatments for those diseases...
28 Jul 2010 at 4:00am
Using chemical "nanoblasts" that punch tiny holes in the protective membranes of cells, researchers have demonstrated a new technique for getting therapeutic small molecules, proteins and DNA directly into living cells...
28 Jul 2010 at 3:00am
Iverson Genetic Diagnostics announced the company has received approval from CMS to conduct a WARFARIN Clinical Study. The two-year study will assess the impact of genetic information in calculating doses and the changes in the rate of adverse events when initiating Warfarin drug therapy. These changes will be compared against doses initiated without genetic data...
28 Jul 2010 at 2:00am
Researchers at the University of Pennsylvania have developed a new, carbon-based nanoscale platform to electrically detect single DNA molecules...
27 Jul 2010 at 4:00am
Drugs such as everolimus that target the protein mTOR are used to treat several forms of cancer, but not all patients respond to the treatment. A team of researchers, led by Alberto Bardelli, at the University of Turin Medical School, Italy, has now identified a way to help predict which patients will respond to such drugs...
27 Jul 2010 at 2:00am
Asuragen, Inc. announced the results from two collaborative studies, one with the University of California Davis M.I.N.D. Institute and another with Rush University Medical Center, that demonstrate comprehensive molecular profiling of the Fragile X Mental Retardation (FMR1) gene using advanced PCR-based methods...
26 Jul 2010 at 7:00am
Genome Canada and the Canadian Institutes of Health Research (CIHR) are pleased to announce a partnered program called "Advancing Technology Innovation through Discovery"...
26 Jul 2010 at 4:00am
It can make blood look like cream of tomato soup. Patients with high levels of triglycerides in their blood, a disease called hypertriglyceridemia (HTG) face an increased risk for heart disease and stroke. HTG affects one in 20 people in North America and is also associated with obesity, diabetes and pancreatitis...
26 Jul 2010 at 3:00am
Oregon Health & Science University Knight Cancer Institute researchers found that the GRB7 gene drives an aggressive form of breast cancer and acts independently of the HER-2 gene, known to be a stimulator of breast cancer growth. Isolating the role of this gene could ultimately help fine-tune a patient's treatment and enable physicians to provide a more accurate prognosis...
26 Jul 2010 at 3:00am
Researchers have long known that humans lack a key enzyme -- one possessed by most of the animal kingdom and even plants -- that reverses severe sun damage. For the first time, researchers have witnessed how this enzyme works at the atomic level to repair sun-damaged DNA. The discovery holds promise for future sunburn remedies and skin cancer prevention...
26 Jul 2010 at 2:00am
A shared decision-making process would assist doctors and parents who are facing the extraordinarily complex, challenging and controversial choices presented when infants are born with genetic or anatomical anomalies in sexual development and are being considered for elective corrective surgery, a new research paper suggests...

 

 

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