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International Birth Defects Information Systems
New Genetics - Medical Genetics

International Birth Defects Information Systems

New Genetics - Medical Genetics

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[P] For Professionals
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[P][*] Medicine and the New Genetics
Expansion of genomics into human health applications, the field of genomic medicine has been born. Genetics is playing an increasingly important role in the diagnosis, monitoring, and treatment of diseases … Glossary … Disease diagnosis and prediction … Information about specific diseases … Fact sheet on gene testing … Understanding gene testing … Evaluating gene testing … NSGC paper on predisposition testing for late-onset disorders in adults … Genetic alliance … Genes and disease … Chromosome deletion outreach … Genetics of schizophrenia …

[P][*] OMIM
Online Mendelian Inheritance in Man.

[P][*] GeneClinics: Medical Genetics Knowledge Base
List of diseases.

[P][*] Genetic Alliance
Outstanding information source regarding organizations, genetic conditions and services.

View Dysmorphic Syndrome Features

Medical Genetics related links
University of Turku.

National Institutes of Health Clinical Trials - Research Database

GeneCards: human genes, proteins and diseases

[S][*] Fact Sheets in Medical Genetics

[S][*][Spanish] Hojas Informativas - Genética Médica

Medical Genetics Index
Techniques for DNA Testing.

Center of Medical Genetics - Userlinks Database


Cytogenetic Aberrations

[S] What Can The Gene Tests Tell Us?
Some currently available DNA-based Gene Tests. Originally appeared in a special genetics issue of The Judges' Journal of the American Bar Association, Summer 1997, Vol. 36:3.

Translating advances in human genetics into public health
A Strategic Plan. Centers for disease control and prevention, October 1, 1997. By the year 2005, most if not all of the estimated 100,000 human genes will have been identified, and tests for more than 400 genes are already available in medical practice. How to use knowledge from genetics research to promote health and prevent disease and disability is now being explored. As the nation's prevention agency, CDC must collaborate with other federal agencies. Goal 1: Foster partnerships and coordination of genetic activities.

Human Genome Project Information
A 13-year effort coordinated by the U.S. Department of Energy and the National Institutes of Health.
Human Genome Research
The U.S. Human Genome Project(HGP), composed of the DOE and NIH Human Genome Programs, is the national coordinated effort to characterize all human genetic material by determining the complete sequence of the DNA in the human genome.

1953 James Watson and Francis Crick publish their discovery of the double-helix structure of DNA.
1983 Biochemist Kary Mullis invents the polymerase chain reaction.
1984 A British researcher develops "genetic fingerprinting".

Human genome research will challenge physicians by American Academy of Family Physicians.
The demands on family physicians will be significant as they gear up to provide information on genetic testing to their patients, help interpret test results for them and consider prescribing new genetic therapies that become available.

Genomics: A Global Resource

Genetics in the Context of Medical Practice by Zarir E. Karanjawala and Francis S. Collins, MD, PhD
MS/JAMA - Essay
Vol.280, pp.1533-1534, Nov 4,1998
This information will benefit clinical medicine by enabling physicians to diagnose and treat heritable disorders more effectively.

Repercussions from the Human Genome Project
Clairvoyance and Caution by Nancy S. Wexler.
"... Genes are being localized far more rapidly than treatments are being developed for the afflictions they cause, and the human genome project will accelerate this trend. The acquisition of genetic knowledge is, in short, outpacing the accumulation of therapeutic power - a condition that poses special difficulties for genetic knowing ..."

Bioinformatics & Computational Genomics (BCG)
In spring 1998, the Weizmann Institute of Science offers for the first time a local course that introduces principles and methods in bioinformatics.

Primer on Molecular Genetics
This primer was prepared by Denise Casey, Human Genome Management Information System, Oak Ridge Laboratory, for the 1991-92 DOE Human Genome Program Report.

[*] Molecular Genetics in Clinical Practice
Bringing Genetic Tests into the Clinic by Neil A. Holtzman, M.D.
"The tests tend to become possible soon after the discovery of a disease-related gene. Hence, they often become available before any interventions are known to be effective. They may also arrive before extensive knowledge regarding their clinical validity. To ensure their safe and effective use, physicians must face several issues - in which the crucial point may be not so much that a test is genetic as that it is used predictively. Primum non nocere. First do not harm ..."

[*] Baylor Molecular Genetics

Pro Bono Humani Generis, Rockefeller University

The Institute for Genomic Research
A Collection of Genomic Databases for Microbes, Plants and Animals.

Mouse Genome Informatics

Genetic Counseling
March of Dimes. Genetic counseling helps people to identify and understand what particular traits they may pass on to their children and also to determine particular risks that may influence pregnancy outcome. Genetic counseling translates scientific knowledge into practical information. A genetic counselor works with a person or family that may be at risk for inherited disease or an abnormal pregnancy outcome, discussing their chances of having children who are affected. Providers of genetic counseling include individuals who have followed a specific educational curriculum and are certified as genetic counselors, and also doctors or nurses with special training in the subject. These health care professionals are experienced in helping families understand birth defects and how inheritance works. They provide information that helps families make personal decisions about pregnancy and child care.

Genetic Testing and Gene Therapy: What They Mean To You and Your Family
March of Dimes.

Understanding Gene Testing
U.S. Department of Health and Human Services, Public Health Service, National Institutes of Health, National Cancer Institute. ... What are genes? ... How do genes work? ...

The Dysmorphic Human-Mouse Homology Database (DHMHD)
Human-Mouse Dysmorphology Database.

Genetics Counseling
Harbor UCLA Medical Center.

Genetic Counseling
University of Kansas Medical Center.

Genetic Counseling
Fraser, 1974 "Genetic Counseling", American Journal of Human Genetics 26:636. " ... a communication process which deals with the human problems associated with the occurrence, or risk of occurrence, of a genetic disorder in a family. Genetic counselors help the individual or family to ... "


International Birth Defects and Information Systems This site offers information mostly for educational purposes. This site is not intended to alter health care protocols nor to serve as a sole source of medical information. Always seek the advice of your local health care provider.

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