Please note:
The listing of these sites should not be regarded in any way as an
endorsement of these sites.
International Rett Syndrome Foundation
The International Rett syndrome Foundation (IRSF) was formed on July 1st, 2007 through
the merging of the International Rett Syndrome Association (IRSA) and the Rett Syndrome
Research Fund (RSRF).
The core mission of the IRSF is to fund resarch for treatments and a cure for Rett syndrome
while enhancing the overall quality of life for those with Rett syndrome by providing
information, programs and services.
Elements of the mission are:
Research: The IRSF will coordinate, cultivate, accelerate, and fund research that will
produce a cure for Rett syndrome and reveal and develop treatments that will make the lives
of people living with Rett syndrome richer and free of pain and discomfort.
Family support: The IRSF will assist families of individuals living with Rett syndrome
by providing them with connections to critical and useful information, programs, services, and
support from diagnosis to day-to-day life.
Advocacy & awareness: The IRSF will advocate for and raise awareness about individuals
with Rett syndrome so the scientific and medical community, policy makers, educators, care
givers, and the general public can more thoroughly know, understand, and be motivated to
help the research efforts and individuals dealing with Rett syndrome on a daily basis.
Links to other international Rett syndrome associations and foundations
These can now be found
here.
InterRett - IRSF Rett Phenotype Database
http://interrett.ichr.uwa.edu.au/index.html?q=/rett/irsa/index.html
"Welcome to InterRett, the IRSF Rett Phenotype Database. InterRett will
provide comprehensive information about the range of clinical features found
in Rett syndrome as well as management and treatments used around the world."
CDKL5 Disorders
www.cdkl5.com
Resources Specifically for Rett syndrome:
Laboratories Testing for MECP2 Mutations
Testing for Rett syndrome
Links to databases of rare diseases around the world.
Other Useful Links:
Online Mendelian Inheritance in Man
http://www.ncbi.nlm.nih.gov/sites/entrez?db=OMIM
"This database is a catalogue of human genes and genetic disorders
authored and edited by Dr. Victor A. McKusick and his colleagues at
Johns Hopkins and elsewhere, and developed for the World Wide Web by
NCBI
the National Center for Biotechnology Information.
The database contains textual information, pictures, and reference information.
It also contains copious links to NCBI's
Entrez
database of MEDLINE articles and sequence information."
Rett syndrome entry
MECP2 entry
CDKL5 entry
"PubMed, a service of the National Library of Medicine, provides
access to over 11 million MEDLINE citations back to the mid-1960's and
additional life science journals.
PubMed includes links to many sites providing full text articles and other
related resources."
"NORD is the only organization of its kind--a unique federation of more
than 140 not-for-profit voluntary health organizations serving people
with rare disorders and disabilities. Thousands of affected
individuals and their families--as well as support groups, health
care and human service professionals, and advocates for people with
rare disorders and disabilities--rely on NORD's assistance and
leadership. NORD is a charity and continues its mission through the
kindness and generosity of its donors."
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MECP2 data is curated by:
Prof. John Christodoulou
and
Gladys Ho.
The MECP2 database and website are maintained by the
Western Sydney Genetics Program.
©2001 Western Sydney Genetics Program
