American Academy of Pediatrics Journal
American Board of Genetic Counseling
American College of Medical Genetics
American Medical Association
American Public Health Association
American Society of Human Genetics
Association of Public Health Laboratories
Federation of American Societies for Experimental Biology
Foundation for Genetic Education & Counseling
National Society of Genetic Counselors, Inc.
National Coalition for Health Professional Education in Genetics
BLMbase: Mutation Registry for Bloom Syndrome
Fanconi Anemia Mutation Database
Gaucher Disease Treatment Program at Massachusetts General Hospital
GeneDis web site for Gaucher
Includes the wild type primary sequences of the GBA and PSAP genes and proteins. Known mutations are incorporated in the genes and in the proteins sequences using hyperlinks. Users can compare GBA and PSAP DNA or protein sequences to the wild type hyperlinked sequences present in GeneDis.
Niemann-Pick Type A and B
International Center for Types A and B Niemann-Pick Disease – Mount Sinai School of Medicine
Other Jewish Genetic Diseases through the Chicago Center for Jewish Genetic Disorders Site
Factor XI Deficiency
Familial Dysautonomia (Riley-Day syndrome)
Non-Classical Adrenal Hyperplasia
Nonsyndromic Hearing Loss
Disease Predisposition Genes
Genomic and bioinformatic resources. Links to anything and everything genetic that your heart may desire.
Bio.com: Research and Industry News on Biotechnology
Includes sections on bioethics, taxes, intellectual property, and represents cutting-edge biotech companies and universities. Very comprehensive.
Breast Cancer Research
A multi-disciplinary, online journal with peer-reviewed biological research, reviews and opinions relevant to breast cancer research. Focus is genetics, biochemistry, and cell biology with free access to research articles.
Cancer Detection and Prevention Online
CDC Office of Genomics and Disease Prevention
Entrez Search and Retreival System – NCBI
Entrez is a retrieval system for searching several linked databases. It provides access to: biomedical literature (PubMed), nucleotide sequence database (Genbank), protein sequence database, three-dimensional macromolecular structures, complete genome assemblies, population study data sets, OMIM: Online Mendelian Inheritance in Man, online books, gene expression and microarray datasets, markers and mapping data, and single nucleotide polymorphisms.
National Center for Biotechnology Information
The GeneTests·GeneClinics website is a publicly funded medical genetics information resource developed for health professionals and researchers, and is free to use (although you must register). The site includes: Expert-authored, peer-reviewed, disease-specific articles about genetic testing and genetic counseling of patients and families with hereditary disorders; a database of US and international laboratories performing genetic testing, searchable by disease name, gene, OMIM number, lab location, disease feature, services, and director; a database of US and international clinics providing genetic counseling, searchable by geographic location, service provided, and specialty; and materials on the use of genetic services, teaching materials for genetics professionals, and a glossary of terms.
Gene Letter and Gene Sage
A site with very useful articles, many bioethical, on subjects we at the Center follow closely. An online-journal on genetic screening and genetic disorders written by a panel of doctors with areas of expertise in fetal and neonatal genetics, pediatrics, ob/gyn, human genetics, genetic testing, clinical genetics, and other related fields. Unfortunately, this journal is no longer being published online, however, all the archived articles are accessible.
GeneSage is a commercial site with products for genetic professionals. Their goal is to translate the promise of genomics into practical solutions for health professionals and consumers. GeneSage gives users a place to answer sensitive questions, access genetic testing, safely store information and act to promote health.
Hum-Molgen: International Communication Forum in Human Molecular Genetics
A large and comprehensive internet source for the latest information in HUMan MOLecular GENetics. They have more than 8,000 subscribers and provide users with an opportunity to communicate with scientists, physicians and other genetics professionals worldwide.
OMIM: The Online Mendelian Inheritance in Man – at NCBI
HGMD: The Human Gene Mutation Database at the Institute of Medical Genetics in Cardiff
EMBL-EBI: European Bioinformatics Institute
European Bioinformatics Institute (EBI) is a center for research and services in bioinformatics. The Institute manages databases of biological data including nucleic acid, protein sequences and macromolecular structures.
Familial Cancer Database (FaCD) – from University Hospital Groningen, The Netherlands/Union International Contre le Cancer (UICC)
FaCD is a stand-alone computer program, designed to run on a personal computer. The program tries to match the tumor features (malignant or benign tumors) and other features observed in a patient and his or her family with the profiles of the disorders stored in the database. Available for free, FaCD is a clinical tool intended for use by health care professionals with at least a basic working knowledge of clinical cancer genetics.
GeneCardsTM is a database of human genes, their products and their involvement in diseases. It offers concise information about the functions of many human genes. The site is particularly useful for people who wish to find information about genes of interest in the context of functional genomics and proteomics.