Related Links

Information Center

Related Links

Alpha-1 Antitrypsin (AAT) Deficiency

AAT deficiency associations and foundations
Alpha-1 Association, Alpha-1 Foundation and AlphaNet

Alpha 1 Awareness Alliance
Raising the profile of AAT deficiency amongst the medical profession and assisting in the early diagnosis of individuals with the disorder

The Doctor's Doctor
Comprehensive alpha-1 antitrypsin deficiency information for physicians

American Liver Foundation
Information and support for patients, including clinical trials, newsletters, links and articles

Guidelines for genetic testing for AAT deficiency

APC - Colorectal Cancer

cancer.gov
Colon and rectal cancer resources, including: treatment, genetics, prevention, causes, statistics, literature and more

APC I1307K gene Mutation
The Johns Hopkins Guide for Patients and Families

Cancer Genetics Web
APC and colorectal cancer resources

American Cancer Society
All about colon and rectal cancer

Cancer Research and Prevention Foundation
Colorectal cancer materials, news, conferences, legislation and more

Guidelines for genetic testing for APC

ApoE

Genetics Home Reference
Understanding ApoE from the U.S. National Library of Medicine

Alzheimer's Foundation of America
Education, prevention, services and more

ApoE
Comprehensive ApoE information from OMIM

Guidelines for genetic testing for ApoE

Bloom Syndrome

Bloom Syndrome
Comprehensive Bloom Syndrome information from OMIM

Human Growth Foundation
Research, education, support and advocacy

Xeroderma Pigmentosum Society, Inc.
Helping Bloom Syndrome patients and their families

Bloom Syndrome for physicians
Article from eMedicine

Guidelines for genetic testing for Bloom Syndrome

BRCA1 / BRCA2

BRCA Test

BRACHA

breastcancer.org
Breast cancer education

Ovarian Cancer Network
Resources, forums, chat rooms, support and more

Cancer Web
Genetics of breast and ovarian cancer

Cancer Genetics Web
BRCA1 information and web resources

Cancer Genetics Web
BRCA2 information and web resources

Guidelines for genetic testing for BRCA1 and BRCA2

Israel Cancer Association

One in Nine Organisation

Canavan

Canavan Foundation
Canavan education and testing

Canavan Research Foundation
Canavan information, research, screening programs, web board and more

Genetics Home Reference
Understanding Canavan disease from the U.S. National Library of Medicine

National Tay-Sachs and Allied Diseases Association, Inc.
What every family should know: Canavan info, modes of inheritance, recommended reading, services to families and more

Guidelines for genetic testing for Canavan

Cystic Fibrosis (CF)

Cystic fibrosis

Cell Science
All Cystic Fibrosis web links by categories: basics, foundations, charities, experts, funding, medical, news, research and more

Cystic Fibrosis Foundation
Cystic Fibrosis support for patients, research, donations, legislative action, publications and more

Cystic Fibrosis disease profile
Human Genome Project information, including disease info, diagnostics, organizations and support groups, clinical trials and other resources

Genetics Home Reference
Understanding Cystic Fibrosis from the U.S. National Library of Medicine

MEDLINEplus
Cystic fibrosis information from the NIH

Bibliography of genetic testing for CF
Current bibliographies from the U.S. National Library of Medicine

Guidelines for genetic testing for Cystic Fibrosis

Familial Dysautonomia (FD)

Dysautonomia Foundation Inc.
Familial dysautonomia info, support, testing, treatment, research and more

Familial Dysautonomia
Information from the New York University FD Center

National Dysautonomia Research Foundation
Support, contacts, news and contributions for Dysautonomia patients

Genetics Home Reference
Understanding Familial Dysautonomia from the U.S. National Library of Medicine

Familial Dysautonomia Hope Foundation
Information for families and donations

Guidelines for genetic testing for Familial Dysautonomia

Familial Mediterranean Fever (FMF)

FMF Community
Support, validation, resources, and connections for persons living with Familial Mediterranean Fever

Familial Mediterranean Fever
Comprehensive FMF information from OMIM

MEDLINEplus
Familial Mediterranean Fever information from the NIH.

GeneDis - Human Genetic Disease Database
Molecular and clinical information

Guidelines for genetic testing for Familial Mediterranean Fever

Fanconi Anemia

Fanconi Anemia Research Fund, Inc.
Fanconi Anemia info, support, treatment, research and more

Fanconi Anemia
Information for families and physicians from Fanconi Canada

MEDLINEplus
Fanconi Anemia information from the NIH

www.fanconi.org.uk
Information for families and friends, diagnosis, updates for physicians, research, European specialists and more

Guidelines for genetic testing for Fanconi Anemia

Gaucher Disease

National Gaucher Foundation
Information and support for families and individuals with Gaucher disease

Children's Gaucher Research Fund
A site for Gaucher families, physicians and contributors

Genetics Home Reference
Understanding Gaucher disease from the U.S. National Library of Medicine

Gaucher Association UK
For the use of patients with Gaucher Disease and their doctors

Guidelines for genetic testing for Gaucher

Glycogen Storage Disease Type 1a (GSD1a)

Association for Glycogen Storage Disease
Basic information about glycogen storage disease

Association for Glycogen Storage Disease UK
Information, workshops, conferences, newsletters and more support for families affected by glycogen storage disease

Glycogen Storage Disease Type 1a
Comprehensive glycogen storage disease type 1a information from OMIM

The Children's Fund for Glycogen Storage Disease Research
Learn about GSD1, the fund and its efforts to find a cure for this disease

Guidelines for genetic testing for GSD1a

Hereditary Deafness (Connexin 26 / Connexin 30)

Hereditary Hearing Loss Homepage
Up-to-date overview of the genetics of hereditary hearing impairment for researchers and clinicians working in the field

Understanding the Genetics of Deafness
A guide for patients and families from the Harvard Medical School Center for Hereditary Deafness

Gendeaf - European Thematic Network on Genetic Deafness
Information depository for genetic deafness for research groups and hearing impaired communities (patients, families and their associations).

Guidelines for genetic testing for hereditary deafness

Hereditary Hemochromatosis

American Hemochromatosis Society
Hemochromatosis information for families and physicians, including testing, treatment, news and more

GeneReviews
Comprehensive information about hereditary hemochromatosis

GeneReviews
Iron overload and hemochromatosis

Hemochromatosis Society UK
Basic information and support

European Iron Club
Information for professionals in biomedical inorganic iron chemistry

Guidelines for genetic testing for hemochromatosis

Mucolipidosis IV (ML4)

Mucolipidosis IV Foundation
Information for parents and professionals

Mucolipidosis IV
Comprehensive Mucolipidosis IV information from OMIM

The National MPS Society, Inc.
Accurate and current information for people with Mucolipidosis and those who care for them

Climb - Children Living with Inherited Metabolic Diseases
Advice, information and support on all metabolic diseases to children, young adults, families, care givers and professionals

Guidelines for genetic testing for Mucolipidosis IV

Niemann-Pick

International Center for Types A and B Niemann-Pick Disease
Information and support for patients, scientists and physicians

National Niemann-Pick Disease Foundation, Inc.
Research, advocacy, support and awareness

MEDLINEplus Niemann-Pick information from the NIH

National Tay-Sachs and Allied Diseases Association, Inc.
What every family should know: Niemann-Pick info, modes of inheritance, recommended reading, services to families and more

Guidelines for genetic testing for Niemann-Pick

Tay-Sachs

National Tay-Sachs and Allied Diseases Association, Inc.
What every family should know: Tay-Sachs info, modes of inheritance, recommended reading, services to families and more

MEDLINEplus
Tay-Sachs information from the NIH

Genetics Home Reference
Understanding Tay-Sachs from the U.S. National Library of Medicine

Your Genes Your Health
Facts, testing and screening, cause, symptoms, treatment and more

National Human Genome Research Institute
Learning about Tay-Sachs disease

Guidelines for genetic testing for Tay-Sachs

Thrombosis Risk Factors

Hereditary Thrombophilia
Basic information

GeneReviews
Comprehensive information about inherited thrombophilia

Hypercoagulable States
Information for physicians from The Cleveland Clinic Disease Management Project

Thrombophilia Testing
Motivation for thrombophilia testing from UAB Coagulation Service

Venous Thrombosis and the Factor V Leiden Mutation
Information and incentives for factor V testing

Thrombophilia Support Page
Educational material, links, doctor's answers and more

Guidelines for genetic testing for Factor V Leiden

Guidelines for genetic testing for thrombosis risk factors in pregnancy

Usher Syndrome

Usher Syndrome Resource Guide
Resources for patients and their families from the National Eye Institute

ushernet.org
Information, charity and scientific board for Usher syndrome patients

The Deafblind Association
Support, information and services to people with deafblindness

A-Z to Deafblindness
Usher Syndrome info

Guidelines for genetic testing for Usher Syndrome

General Interest

DNA from the Beginning
An animated primer on the basics of DNA, genes and heredity

The Society of Genetics in Israel
Publications, education, research, links and more

Israeli Ministry of Health
Data and regulations of Jewish genetic diseases in Israel

Center for Jewish Genetic Diseases
Jewish genetic diseases resources, programs and education