- Spiral Notebook: Carnitine Palmitoyl Transferase Deficiency
A newsletter about a rare genetic disorder of fat metabolism that causes muscle breakdown.
www.spiralnotebook.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
- 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
- Pallister-Killian Syndrome
Information and support for this rare chromosomal disorder.
www.pk-syndrome.org
- Office of Genetics and Disease Prevention
Information and global resources on human genetic research, the Human Genome Project, epidemiology, public health, disease prevention, and health promotion.
www.cdc.gov/genomics/default.htm
- National Association for Psuedoxanthoma Elasticum (NAPE)
Support group offering information on the disorder, and a membership-based newsletter.
www.napxe.org
- 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
- Metachromatic Leukodystrophy (MLD)
Genetic disorder caused by a deficiency of the enzyme arylsulfatase A. From the National Institute of Neurological Disorders and Stroke.
www.ninds.nih.gov/health_and_medical/disorders/meta_leu_doc.htm
- Dubowitz Syndrome Information & Parent Support
Includes information, chat, listserv, and message board.
www.dubowitz.org
- NOAH: Genetic Disorders
Links to sites about various various diseases and conditions that have a known or suspected genetic origin.
www.noah-health.org/en/genetic
- G6PD Deficiency
G6PD deficiency is the most common human enzyme deficiency in the world; it affects an estimated 400 million people worldwide.
rialto.com/g6pd
- 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
- Purine Metabolic Patients' Association (PUMPA)
Charity supporting families with members suffering from purine metabolic diseases.
www.pumpa.co.uk
- Children's Hospital of Philadelphia: Congenital Hyperinsulinism Center
Resources for parents and professionals about the disorder which causes low blood sugar or hypoglycemia in infants and children.
hyperinsulinism.chop.edu
- Genetic Disorders & Birth Defects - Sri Lanka Collection
Information about genetic disorders and birth defects pertaining to Sri Lanka.
infolanka.com/org/genetics
- 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
- Chromosome 22 Central
Information and support group devoted to the many disorders involving chromosome 22, such as Trisomy 22, Cat Eye Syndrome, VeloCardioFacial Syndrome, DiGeorge Syndrome, and Ring 22.
www.nt.net/~a815
- Infantile Refsum's Disease
Created for families for support and sharing.
home.pacifier.com/~mstephe
- 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
- CAPS Family Connections
Information on cryopyrin associated periodic syndromes (CAPS) and a screener survey regarding patient symptoms, including familial history of symptoms and existing diagnosis of CAPS.
www.capsfamilyconnections.com
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