International Rett Syndrome Foundation

RettBASE: IRSF MECP2 Variation Database

The Children's Hospital at Westmead

Useful Resources for Patients, Families and the Public.

Please note: The listing of these sites should not be regarded in any way as an endorsement of these sites.


International Rett Syndrome Foundation

http://www.rettsyndrome.org/

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

Rare/Orphan Diseases - Rett syndrome http://rarediseases.about.com/cs/rettsyndrome/

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 http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed

"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."


National Organization for Rare Disorders, Inc. http://www.rarediseases.org/

"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