- Alliance of Genetic Support Groups [IA][Direct] -
Nternational coalition of individuals, professionals, and genetic support organizations working together to enhance the lives of everyone impacted by genetic conditions.
- Bannayan Zonana Syndrome [IA][Direct] -
B-Z syndrome is a rare, chromosome-related constellation of abnormailities, most notably enlarged head. This page is an entry into literature on the subject.
- Blazing a Genetic Trail [IA][Direct] -
A series of articles, with graphics and photographs, profiling research on mutant genes and hereditary diseases, from the Howard Hughes Medical Institute.
- Canadian Associaton of Genetic Counsellors (CAGC) [IA][Direct] -
Includes information for people who are considering a career in genetic counselling, with links to the major programs in Canadian universities.
- Cancer Genome Anatomy Project (CGAP) [IA][Direct] -
Interdisciplinary program 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 [IA][Direct] -
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 [IA][Direct] -
Focuses on disorders of mitochondrial function interfering with pyruvate metabolism, fatty acid oxidation, the Krebs cycle, and the electron transport chain.
- CFC Family Network [IA][Direct] -
Designed for parents and professionals looking for support and information on CFC Syndrome.
- Chromosome 9P- Network [IA][Direct] -
International not-for-profit organization dedicated to educating and bringing together families with children who have Alfi's syndrome.
- Clinical Genetics: A Self Study for Health Care Providers [IA][Direct] -
Covers identifying individuals and families who might benefit from genetic services, assisting them in accessing these services, and answering questions they might have following a genetic consultation.
- Congenital Adrenal hyperplasia Our Voices and Our Stories [IA][Direct] -
Offers information on the psychological aspects of living with this condition, also personal experiences.
- Dubowitz Syndrome Information & Parent Support [IA][Direct] -
Includes information, chat, listserv, and message board.
- Elastic Fiber [IA][Direct] -
Contains information about the genes (elastin, fibrillins) and associated diseases (Marfan Syndrome) of the connective tissue known as the elastic fiber.
- G6PD Deficiency [IA][Direct] -
G6PD deficiency is the most common human enzyme deficiency in the world; it affects an estimated 400 million people worldwide.
- GeneCards Database [IA][Direct] -
Provides a quick overview over the vast amount of knowledge about human genes, their products, and diseases in which they are involved.
- GeneClinics [IA][Direct] -
Contains genetics disease database and information relating genetic testing to diagnosis, management, and counseling of individuals and families with inherited disorders.
- Genes and Disease [IA][Direct] -
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.
- Genetic Disorders & Birth Defects - Sri Lanka Collection [IA][Direct] -
Information about genetic disorders and birth defects pertaining to Sri Lanka.
- Genetics Education and Counseling Program [IA][Direct] -
Community and professional awareness and education initiative for the Ashkenazi Jewish population of Western Pennsylvania.
- Hed Foundation [IA][Direct] -
Mission is to improve the quality of life for children suffering from HED (hypohidrotic ectodermal dysplasia) and related disorders that affect the body's ability to cool itself.
- Hereditary Disease Foundation [IA][Direct] -
Non-profit, basic science organization dedicated to the cure of genetic disease.
- Human Gene Mutation Database [IA][Direct] -
An attempt to collate known (published) gene lesions responsible for human inherited disease.
- Hutchinson-Gilford Progeria Syndrome [IA][Direct] -
A rare aging disease that is fatal.
- Infantile Refsum's Disease [IA][Direct] -
Created for families for support and sharing.
- International Organization of Glutaric Acidemia [IA][Direct] -
IOGA supports families affected by this genetically inherited debilitating rare disorder that can cause significant brain damage before diagnosis is made.
- International Society for Mannosidosis & Related Diseases [IA][Direct] -
A nonprofit organization advocating for families and caregivers.
- Lysosomal Storage Diseases: A Family Sourcebook [IA][Direct] -
Information on a group of inherited disorders causing progressive neurological deterioraton in children.
- Marfan's Syndrome Links [IA][Direct] -
Learn more about this rare genetic disorder.
- Medical Genetics [IA][Direct] -
Materials including exams and photos to supplement the textbook by Jorde et al.
- Mucolipidosis IV Foundation [IA][Direct] -
Information forum on ML$, a rare genetic disease.
- Murdoch Institute, The [IA][Direct] -
Devoted to the research of genetic diseases and birth defects.
- National Association for Psuedoxanthoma Elasticum (NAPE) [IA][Direct] -
Support group offering information on the disorder, and a membership-based newsletter.
- National Dysautonomia Research Foundation [IA][Direct]
- National Society of Genetic Counselors (NSGC) [IA][Direct] -
A leading voice, authority, and advocate for the genetic couseling profession.
- Neurogenetics - Massachusetts General Hospital [IA][Direct] -
Information on a variety of neurogenetic diseases including neurofibromatosis, Von Hippel-Lindau disease, and tuberous sclerosis.
- Office of Genetics and Disease Prevention [IA][Direct] -
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 [IA][Direct] -
A catalog of human genes and genetic disorders authored and edited by Dr. Victor A. McKusick and colleagues at Johns Hopkins and elsewhere.
- Pseudoxanthoma Elasticum (PXE) [IA][Direct] -
Source for information, support group information, clincial and lay bulletins and more.
- Pseudoxanthoma Elasticum (PXE) [IA][Direct] -
Source for information, support group information, clincial and lay bulletins and more.
- Purine Metabolic Patients' Association (PUMPA) [IA][Direct] -
Charity supporting families with members suffering from purine metabolic diseases.
- Purine Metabolic Patients' Association (PUMPA) [IA][Direct] -
Charity supporting families with members suffering from purine metabolic diseases.
- Question of Genes, A [IA][Direct] -
PBS special explores questions and ethical issues raised by genetic research and testing.
- Rare Genetic Diseases in Children [IA][Direct] -
Resource directory with links for rare childhood genetic diseases with message boards and parent-matching.
- Rare Genetic Diseases In Children [IA][Direct]
- Smith-Lemli-Opitz Syndrome
 [IA][Direct] -
SLO/RSH is a genetic disorder that affects the development of children both before and after birth. - Spiral Notebook: Carnitine Palmitoyl Transferase Deficiency [IA][Direct] -
A newsletter about a rare genetic disorder of fat metabolism that causes muscle breakdown.
- Tetrasomy 18p [IA][Direct] -
Information and family support.
- Tetrasomy 18p [IA][Direct] -
Information and family support.
- UNIQUE Rare Chromosome Disorder Support Group [IA][Direct] -
Support group for families with any rare chromosome conditions.
- Velo-Cardio-Facial Syndrome [IA][Direct] -
Articles, support groups, newsletter and related links.
- WELCOME TO SCHIZ KIDZ BUDDIES!
 [IA][Direct] -
Support group for children and families with Schizencephaly, a rare form of brain damage. - Xeroderma Pigmentosum Society, Inc. [IA][Direct] -
Provides information on the disease also known as XP.
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