- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- Chromosome 9P- Network
International not-for-profit organization dedicated to educating and bringing together families with children who have Alfi's syndrome.
www.9pminus.org
- 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
- Dubowitz Syndrome Information & Parent Support
Includes information, chat, listserv, and message board.
www.dubowitz.org
- 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
- 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
- GeneClinics
Working to promote the appropriate use of genetic services in patient care and personal decision making by providing current, authoritative information on genetic testing and its use in diagnosis, management, and genetic counseling.
www.geneclinics.org
- Genetic Alliance
Provides a global resource for genetics information including a directory of condition-specific lay advocacy member groups.
www.geneticalliance.org
- Genetic Disorders & Birth Defects - Sri Lanka Collection
Information about genetic disorders and birth defects pertaining to Sri Lanka.
infolanka.com/org/genetics
- Hereditary Disease Foundation
Nonprofit, basic science organization dedicated to the cure of genetic disease.
www.hdfoundation.org
- 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
- Infantile Refsum's Disease
Created for families for support and sharing.
home.pacifier.com/~mstephe
- International Society for Mannosidosis & Related Diseases
A nonprofit organization advocating for families and caregivers.
www.mannosidosis.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
- Medical Genetics
Materials including exams and photos to supplement the textbook by Jorde et al.
medgen.genetics.utah.edu
- MedlinePlus: Genetic Disorders
Presents news, FAQs, overviews, fact sheets, research, and other resources.
www.nlm.nih.gov/medlineplus/geneticdisorders.html
- 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
- Mucolipidosis IV Foundation
Information forum on ML$, a rare genetic disease.
www.ml4.org
- National Association for Psuedoxanthoma Elasticum (NAPE)
Support group offering information on the disorder, and a membership-based newsletter.
www.napxe.org
- National Dysautonomia Research Foundation
Offers information and support for people affected by disorders of the autonomic nervous system.
www.ndrf.org
- National Society of Genetic Counselors (NSGC)
A leading voice, authority, and advocate for the genetic counseling profession.
www.nsgc.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
- 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
- OMIM: Online Mendelian Inheritance in Man
A catalog of human genes and genetic disorders.
www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM
- Pallister-Killian Syndrome
Information and support for this rare chromosomal disorder.
www.pk-syndrome.org
- 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
- Purine Metabolic Patients' Association (PUMPA)
Charity supporting families with members suffering from purine metabolic diseases.
www.pumpa.co.uk
- Spiral Notebook: Carnitine Palmitoyl Transferase Deficiency
A newsletter about a rare genetic disorder of fat metabolism that causes muscle breakdown.
www.spiralnotebook.org
- Xeroderma Pigmentosum Society
Provides information on the disease also known as XP.
www.xps.org
- XLH Network
Worldwide patient support organization for people living with, treating, or researching the metabolic genetic disorder x-linked hypophosphatemic rickets, also known as vitamin D resistant rickets.
www.xlhnetwork.org
- 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
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