Finding Information on genetic diseases

For the students in Greg Thompson's Biology 114 class.  This will get you started on your research for genetic diseases/disorders. 

Medline Plus Genetics Disorder Page

http://www.nlm.nih.gov/medlineplus/geneticdisorders.html

NORD National Organization for Rare Diseases

http://www.rarediseases.org/

Center for Jewish Genetic Diseases Mt. Sinai Hospital

http://www.mssm.edu/jewish_genetics/

American Society of Gene and Cell Therapy

http://www.asgt.org/

Gene Tests University of Washington

http://www.ncbi.nlm.nih.gov/sites/GeneTests/?db=GeneTests

National Human Research Genome Institute

http://www.genome.gov/

Maple Syrup Urine Disease (MSUD) Family Support Group

http://www.msud-support.org/

National Newborn Screening and Genetics Center

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

National Urea  Cycles Disorder  Foundation

http://www.nucdf.org/

Save Babies Through Screening Foundation

http://www.savebabies.org/

American Society of Human Genetics

http://www.ashg.org/

Genetic Alliance

http://www.geneticalliance.org/

March of Dimes Birth Defects

http://www.marchofdimes.com/

National Society of Genetic Counselors

http://www.nsgc.org/

Chicago Center for Jewish Genetic Disorders

http://www.jewishgenetics.org/

Chromosome Disorder Outreach

http://www.chromodisorder.org/CDO/

Madisons Foundation

http://www.madisonsfoundation.org/

Progeria Research Foundation

http://www.progeriaresearch.org/

Alpha 1 Association

http://www.alpha1.org/

Alpha-1 Foundation

http://www.alpha-1foundation.org/

NIH Office of Rare Diseases Research

http://rarediseases.info.nih.gov/

National Tay Sachs & Allied Diseases Association, Inc.

http://www.ntsad.org/

NINDS Tay Sachs

http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm

NINDS Huntingtons

http://www.ninds.nih.gov/disorders/huntington/huntington.htm

Huntingtons Disease society of America

http://www.hdsa.org/

NINDS Pompe Disease  (acid maltase deficiency, glycogen storage disease)

http://www.ninds.nih.gov/disorders/pompe/pompe.htm

Association for Glycogen Storage Disease

http://www.agsdus.org/

NLM Genetics Home Reference

http://ghr.nlm.nih.gov/

Genetic and Rare conditions Site

http://www.kumc.edu/gec/support/

Genetic Alliance

http://www.geneticalliance.org/

Orphan Net (Rare diseases and orphan drugs)

http://www.orpha.net/consor/cgi-bin/index.php

Genetic Medicine.org

http://www.searchnut.com/?domain=www.geneticmedicine.org

OMIM Online Mendelian Inheritance in Man

http://www.ncbi.nlm.nih.gov/sites/entrez?db=OMIM

Genome.gov

http://www.genome.gov/10001204

National Human Genome Research Institute

http://www.genome.gov/10001204

BOOKS
Start with the ebooks collection on the library webpage.

Check the following books in the library and search our online catalog for books on specific genetic disorders.

Genetic Disorders Sourcebook    REF RB 155.5 G455 2000

Merck Manual REF RC 55 M4 2006

Physicians’ Guide to Rare Diseases  REF RC 69 P49 1992

NORD Guide to Rare Disorders (National Organization for Rare Disorders) REF RC 48.8 385 2003

DATABASES

Visit the library webpage and click on the databases link

Click on Stat Ref and enter your search term

You can also search within individual titles such as AAFP Conditions A-Z, Merck Manual, Mayo Clinic Internal Medicine Review, and ACP Pier & AHFS DI Essentials.

Also search within nursing and health databases for the specific disease/condition.