- Alliance of Genetic
Support Groups - international coalition of individuals,
professionals, and genetic support organizations working together to
enhance the lives of everyone impacted by genetic conditions.
Zonana Syndrome - B-Z syndrome is a rare, chromosome-related
constellation of abnormalities, most notably enlarged head.
- 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 Associaton of Genetic
Counsellors (CAGC) - includes information for people who are
considering a career in genetic counseling, with links to the major
programs in Canadian universities.
- Cancer Genome Anatomy
Project (CGAP) - 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 - 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.
- CFC Family
Network - designed for parents and professionals looking for
support and information on CFC Syndrome.
- Chromosome 9P- Network -
international not-for-profit organization dedicated to educating and
bringing together families with children who have Alfi's syndrome.
Genetics: A Self Study for Health Care Providers - 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.
- Dubowitz Syndrome Information
& Parent Support - includes information, chat, listserv, and
- G6PD Deficiency - G6PD
deficiency is the most common human enzyme deficiency in the world; it
affects an estimated 400 million people worldwide.
- provides a quick overview of the vast amount of knowledge about
human genes, their products, and diseases in which they are involved.
- GeneClinics - contains
genetics disease database and information relating genetic testing to
diagnosis, management, and counseling of individuals and families with
- 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.
- Genetic Disorders &
Birth Defects - Sri Lanka Collection - information about genetic
disorders and birth defects pertaining to Sri Lanka.
- Genetics Education and
Counseling Program - community and professional awareness and
education initiative for the Ashkenazi Jewish population of Western
- Hed Foundation - 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
- non-profit, basic science organization dedicated to the cure of
- 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 Organization
of Glutaric Acidemia - 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 - a nonprofit organization
advocating for families and caregivers.
Storage Diseases: A Family Sourcebook - information on a group of
inherited disorders causing progressive neurological deterioration in
- Medical Genetics -
materials including exams and photos to supplement the textbook by
Jorde et al.
- Mucolipidosis IV Foundation -
information forum on ML$, a rare genetic disease.
- Murdoch Institute, The
- devoted to the research of genetic diseases and birth defects.
- National Association for
Psuedoxanthoma Elasticum (NAPE) - support group offering
information on the disorder, and a membership-based newsletter.
- National Dysautonomia Research
- National Society of Genetic Counselors
(NSGC) - a leading voice, authority, and advocate for the genetic
- Massachusetts General Hospital - information on a variety of
neurogenetic diseases including neurofibromatosis, Von Hippel-Lindau
disease, and tuberous sclerosis.
- 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 catalog of human genes and genetic
- Pseudoxanthoma Elasticum (PXE)
- source for information, support group information, clinical and lay
bulletins and more.
- Public Health Genetics Society
- promotes awareness of the role of genetics in public health and
disease and the implications of genetic technology on public health.
Metabolic Patients' Association (PUMPA) - charity supporting
families with members suffering from purine metabolic diseases.
- Question of Genes, A - PBS
special explores questions and ethical issues raised by genetic
research and testing.
Genetic Diseases in Children - resource directory with links for
rare childhood genetic diseases with message boards and
- Schiz Kidz
Buddies - support group for children and families with
Schizencephaly, a rare form of brain damage.
Syndrome - SLO/RSH is a genetic disorder that affects the
development of children both before and after birth.
- Spiral Notebook: Carnitine
Palmitoyl Transferase Deficiency - a newsletter about a rare
genetic disorder of fat metabolism that causes muscle breakdown.
- Tetrasomy 18p -
information and family support.
- Unique - support
group for families with any rare chromosome conditions.
Syndrome - articles, support groups, newsletter and related links.
- Xeroderma Pigmentosum Society, Inc.
- provides information on the disease also known as XP.
- 7th World Down Syndrome
Congress - held in Sydney March 23 to 26, 2000. Includes program
information and registration.
- Aim High - reporting items of
interest relating to Down Syndrome and providing a forum for families
dealing with it.
To Kaitlyn - place for those with a disabled family member to meet
and share their thoughts.
- Down Syn On-Line
Magazine - information for parents including nutrition therapy,
physical therapy and occupational therapy and advice.
- Down Syndrome
Syndrome: A Parents Resource
- Down Syndrome: For New Parents
- provides information and resources.
- Down Syndrome: Health Issues
- collection of medical essays and information.
- Down's Syndrome
- DownsCity - information
services, national events, marketplace and personalities sections.
- DownsNet - provides web space,
access, and support to improve the information products, and services
available to the Down Syndrome Community.
Side of Down Syndrome - resources and respite links for parents
- Pathfinder Village -
village specializing in Down Syndrome.
- Riverbend Down
Syndrome Parent Support Group - provides support and information
to parents of children with Down syndrome in Southwestern Illinois.
- Sarah's Page - with
links to sites on down syndrome and inclusion issues in public
education, and some of her favorite things.
Nutritional Intervention - TNI - therapy for children with Down
Syndrome which is designed to make them healthier and improve
- Uno Mas! Down Syndrome Online
- offers information, pictures, calendar of events, contests and more.
- Usenet - bit.listserv.down-syn
Fragile X Syndrome
- Arc's Q&A on
- Fragile X Association
of Australia - support group with contacts, education and medical
- Fragile X Association of Southern
California - promotes public awareness, provides a forum for
parents and supports scientific research.
- Fragile X
Syndrome - a statement from the American College of Medical
- Fragile X
Syndrome - Macroorchidism
- FRAXA Research Foundation -
national nonprofit, parent-run foundation which funds medical research
aimed at treatment of this single gene disorder and the #1 inherited
cause of mental retardation.
- National Fragile X Foundation
California Fragile X Association - formed to promote public
awareness of Fragile X Syndrome. Learn more about the causes and
symptoms, and the studies done to understand this disability.
- Caring for
People with Huntington's Disease - resource area for caregivers
and family members of those with the disease; non medication
treatments and adaptive measures are emphasized.
Huntington Hilfe e.V. - Information on Huntington's Diseases and
the Deutsche Huntington Hilfe.
- Huntington Society of Canada -
resource site for Canadian Huntington Society chapters, with links to
research, resource people, volunteer opportunities, and upcoming
- Huntington's Disease Lighthouse
- offers information on support, doctors, drugs, nursing homes, and
Disease Society of America (HDSA) (5)
Disease% - information and links.
Directory - Internet Resources for Huntington's Disease Information
Sickle Cell Anemia