OMIM Search Screen:
Find the most recent updates to entries in
McKusick's catalog of single gene disorders, Mendelian Inheritance in
Man. This essential reference includes extensive bibliographies, links
to OMIM's disease gene map and to the image archive at Cedar Sinai
Medical Center
HELIX:
Find laboratories doing molecular diagnostic testing for genetic
conditions. Registration is required; access is restricted to health
professionals. Instructions for registration available online.
GENLINE:
This prototype electronic textbook contains expert-authored,
peer-reviewed synthesized clinical information on genetic conditions for
which molecular testing is available. Now is an excellent opportunity to
provide feedback on this evolving resource.
Dysmorphology Discussion Board - DDB:
A password-protected website to
which clinicians can submit clinical features, images, and x-rays of
unknown cases for review by colleagues. Apply for password access online
to one of the editors, Robin M. Winter.
The Dysmorphic Human-Mouse Homology Database (DHMHD):
A companion
resource to DDB providing lists of phenotypic features for human
cytogenetic aberrations, human dysmorphic syndromes, and mouse
syndromes.
The Gene Letter:
Electronic genetics newsletter provides full text
articles on a range of topics in medical genetics. A project of the
Shriver Center and the U.S. Department of Energy.
National Center for Genome Resources - Genetics and Public Issues provides
full text resources with focus on education and ethical issues around
genetic research, diagnostics, treatments, and gene
therapy.
Human Gene Map:
Featured genes are also linked to articles from the
journal Science Online
HUM-MOLGEN:
A moderated communication forum in human molecular Genetics
with an international editorial board and thousands of worldwide
subscribers. Several areas of special interest are available.
Clingen-L Clinical Genetics Mail List: To participate in this forum for clinical geneticists, send email to listserv@listserv.utoronto.ca
with the message: subscribe clingen-L Your Name
(Remember! your
communications in a discussion group are not necessarily private)
Clinical Genetics Cases at Jefferson: Sorry! this resource is no longer
available to the public at large
Directories and Indexes to Resources in Genetic Medicine
Information for genetics professionals - created and maintained by
genetic counselor Debra Collins for clinical geneticists and genetic
counselors.
Genetics webliography:
Selected and annotated by Len Davidson, Librarian, Georgetown University
Medical Library
Medical Matrix - Genetics-Clinical:
Provides "selected, ranked,
peer-reviewed, annotated, continuously updated, full-text patient care
resources". Includes news, articles, reference documents, practice
guidelines, cases, textbooks, and forums.
CORN: The Council of Regional Networks homepage.
GLARGG: Great Lakes Regional Genetics Group provides organizational information, data, and project descriptions. Information on several dozen videos relevant to genetic services.
MSRGSNet: The Mountain States Regional Genetic Services Network
provides a directory to service providers, an extensive newborn
screening practitioners manual, and full text of its educational
publications on molecular cytogenetics, teratogens, prenatal diagnosis
and more.
SERGG: The SouthEastern Regional Genetics Group includes a directory of
services, newsletters discussing topics of current interest, and a
cytogenetic database of chromosomal abnormalities reported by regional
laboratories.
Resources for Patient information and Family support
Directory of National Genetic Voluntary Organizations includes contact
information for member groups of the Alliance of Genetic Support Groups.
Organizations with and without websites may be located here.
Family Village:
A comprehensive, continually updated patient-family
resource for information and links to national association support
groups, listservs, and other families with rare conditions. Funded in
part by the Kennedy Institute.
Family Village Card Catalog of Specific Diagnoses
NORD Home Page:
The National Organization for Rare Diseases is an
important resource for advocacy as well as inexpensive, substantive
information resources.
NORD - Medical Updates and Action
NORD - Search their Rare Disease Database:
MUMS:
Matches families with identified chromosome abnormalities. Check
for a specific chromosome abnormality listed at their site and contact
them directly for patient family contact information.
Online Genetic Syndrome Support Groups:
This alphabetical index is
maintained by a genetic counselor and gives quick access. to national
support group associations with websites
Notable Websites for some of the most frequently diagnosed conditions
WideSmiles! Cleft Lip and Palate Resource
FRAXA Research Foundation:
Fragile X Syndrome