- Bannayan Zonana Syndrome
 - Rare disorder characterized by a large head and multiple soft tumors and associated with chromosomal abberations, possibly pair 19. - 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.
- 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.
- Cancer Genome Anatomy Project (CGAP)
- Interdisciplinary programme to establish the information and technological tools needed to decipher the molecular anatomy of a cancer cell.
- 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.
- 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.
- 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.
 Children's Mitochondrial Disease Network, The
- Parental and professional organisation specialising in the complexities of mitochondrial and associated disorders.- 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.
- Chromosome 9P- Network
- International not-for-profit organisation dedicated to educating and bringing together families with children who have Alfi's syndrome.
- Developmental Genome Anatomy Project
- Seeks to identify genes important in human development by mapping chromosome breakpoints in individuals with congenital anomalies and chromosome rearrangements.
- Dubowitz Syndrome Information & Parent Support
- Includes information, chat, listserv, and message board.
- G6PD Deficiency
- G6PD deficiency is the most common human enzyme deficiency in the world; it affects an estimated 400 million people worldwide.
- GeneCards
- Provides a quick overview of the vast amount of knowledge about human genes, their products, and diseases in which they are involved.
- 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 counselling.
- Genetic Alliance
- Provides a global resource for genetics information including a directory of condition-specific lay advocacy member groups.
- Genetic Disorders & Birth Defects - Sri Lanka Collection
- Information about genetic disorders and birth defects pertaining to Sri Lanka.
- Genetic Health
- Offers general information on conditions, DNA mutations, genetic testing, and research participation.
- Hereditary Disease Foundation
- Nonprofit, basic science organisation dedicated to the cure of genetic disease.
- Human Gene Mutation Database
- An attempt to collate known (published) gene lesions responsible for human inherited disease.
- Infantile Refsum's Disease
- Created for families for support and sharing.
- International Society for Mannosidosis & Related Diseases
- A nonprofit organisation advocating for families and caregivers.
- 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.
- Jeans for Genes
- One-day fundraising appeal where everyone across the U.K. is invited to wear jeans to help children affected by genetic disorders.
- Medical Genetics
- Materials including exams and photos to supplement the textbook by Jorde et al.
- MedlinePlus: Genetic Disorders
- Presents news, FAQs, overviews, fact sheets, research, and other resources.
- Metachromatic Leukodystrophy (MLD)
- Genetic disorder caused by a deficiency of the enzyme arylsulfatase A. From the National Institute of Neurological Disorders and Stroke.
- Mucolipidosis IV Foundation
- Information forum on ML$, a rare genetic disease.
- National Association for Psuedoxanthoma Elasticum (NAPE)
- Support group offering information on the disorder, and a membership-based newsletter.
- National Center for Biotechnology Information: Genes and Disease
- Learn about the known genetic causes of cancer and immune system, metabolic, muscle and bone, nervous system, and other diseases. Includes chromosome maps showing the locations of disease genes.
- National Dysautonomia Research Foundation
- Offers information and support for people affected by disorders of the autonomic nervous system.
- National Society of Genetic Counselors (NSGC)
- A leading voice, authority, and advocate for the genetic counselling profession.
- NOAH: Genetic Disorders
- Links to sites about various various diseases and conditions that have a known or suspected genetic origin.
- 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.
- OMIM: Online Mendelian Inheritance in Man
- A catalogue of human genes and genetic disorders.
- Pallister-Killian Syndrome
- Information and support for this rare chromosomal disorder.
- 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.
- Pseudoxanthoma Elasticum (PXE)
- Source for information, support group information, clincial and lay bulletins and more.
- Purine Metabolic Patients' Association (PUMPA)
- Charity supporting families with members suffering from purine metabolic diseases.
- Spiral Notebook: Carnitine Palmitoyl Transferase Deficiency
- A newsletter about a rare genetic disorder of fat metabolism that causes muscle breakdown.
- Xeroderma Pigmentosum Society
- Provides information on the disease also known as XP.
- XLH Network
- Worldwide patient support organisation for people living with, treating, or researching the metabolic genetic disorder x-linked hypophosphatemic rickets, also known as vitamin D resistant rickets.
- Your Genes, Your Health
![[*]](http://eur.i1.yimg.com/eur.yimg.com/i/uk/g/rating2.gif) - A multimedia guide to specific individual genetic disorders from the Dolan DNA Learning Centre at Cold Spring Harbour Laboratory.
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