Genetic Disorders in the Yahoo! Directory

Your Genes, Your Health
A multimedia guide to specific individual genetic disorders from the Dolan DNA Learning Center at Cold Spring Harbor Laboratory.
www.yourgenesyourhealth.org
James Stewardson Research and Welfare Trust
Creating public awareness and racing against time to save the lives of the small number of children with Triose Phosphate Isomerase (TPI) Deficiency.
beehive.thisisdorset.co.uk/default.asp?WCI=SiteHome&ID=7373&PageID=39261
Blazing a Genetic Trail
A series of articles, with graphics and photographs, profiling research on mutant genes and hereditary diseases, from the Howard Hughes Medical Institute.
www.hhmi.org/genetictrail
Canadian Association of Genetic Counsellors
Works to establish minimum standards of practice, to encourage professional growth, and to increase recognition of the genetic counselling profession in Canada.
www.cagc-accg.ca
International Society for Mannosidosis & Related Diseases
A nonprofit organization advocating for families and caregivers.
www.mannosidosis.org
National Dysautonomia Research Foundation
Offers information and support for people affected by disorders of the autonomic nervous system.
www.ndrf.org
Genetic Health
Offers general information on conditions, DNA mutations, genetic testing, and research participation.
www.genetichealth.com
Purine Metabolic Patients' Association (PUMPA)
Charity supporting families with members suffering from purine metabolic diseases.
www.pumpa.co.uk
OMIM: Online Mendelian Inheritance in Man
A catalog of human genes and genetic disorders.
www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM
Pompe
Learn about symptoms and treatments of Pompe disease, a rare neuromuscular genetic disease that occurs in babies, children, and adults. Site created by Genzyme.
www.pompe.com
Pseudoxanthoma Elasticum (PXE)
Source for information, support group information, clincial and lay bulletins and more.
www.pxe.org/index.html
Bannayan Zonana Syndrome
Rare disorder characterized by a large head and multiple soft tumors and associated with chromosomal abberations, possibly pair 19.
www.indiana.edu/~pietsch/bannayan-zonana.html
Human Gene Mutation Database
An attempt to collate known (published) gene lesions responsible for human inherited disease.
www.uwcm.ac.uk/uwcm/mg/hgmd0.html
Developmental Genome Anatomy Project
Seeks to identify genes important in human development by mapping chromosome breakpoints in individuals with congenital anomalies and chromosome rearrangements.
dgap.harvard.edu
Pallister-Killian Syndrome
Information and support for this rare chromosomal disorder.
www.pk-syndrome.org
GeneCards
Provides a quick overview of the vast amount of knowledge about human genes, their products, and diseases in which they are involved.
bioinformatics.weizmann.ac.il/cards
Center for Inherited Disorders of Energy Metabolism (CIDEM) - Case Western Reserve University
Focuses on disorders of mitochondrial function interfering with pyruvate metabolism, fatty acid oxidation, the Krebs cycle, and the electron transport chain.
www.cwru.edu/med/CIDEM/cidem.htm
Dubowitz Syndrome Information & Parent Support
Includes information, chat, listserv, and message board.
www.dubowitz.org
Cancer Genome Anatomy Project (CGAP)
Interdisciplinary program to establish the information and technological tools needed to decipher the molecular anatomy of a cancer cell.
www.ncbi.nlm.nih.gov/ncicgap
Center for Inherited Disease Research - Johns Hopkins University
High throughput genotyping and statistical genetics services to investigators seeking to identify genes contributing to human disease.
www.cidr.jhmi.edu