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 and National Rett Syndrome Organisations

International Rett Syndrome Association http://www.rettsyndrome.org/

The mission of the IRSA is:

to support and encourage medical research to determine the cause and find a cure for Rett syndrome
to increase public awareness of Rett syndrome, and
to provide informational and emotional support to families of children with Rett syndrome

IRSA Statement of Purpose:

to collect and disseminate accurate and objective information regarding the cause, identification, treatment, prediction, prognosis, analysis, prevention and cure of Rett syndrome
to develop understanding and awareness of Rett syndrome
to promote the general welfare of those with Rett syndrome
to further the advancement of study, research, therapy and care
to assist in identifying persons with Rett syndrome
to support parents in coping with the disorder
to conduct other activities aimed at the prevention, treatment or eradication

Rett Syndrome Research Foundation http://www.rsrf.org/

"At RSRF we envision a future where no one is threatened by Rett Syndrome and we are working towards that goal. Come meet us and our Scientific Advisory Board."

Rett Syndrome Australian Research Fund http://www.rett.nesher.com.au/

Patrons are Susie Maroney - Ultra Marathon Swimmer, and Brett Aitken - Olympic Gold medallist 2000

Australian Rett Syndrome Study http://www.ichr.uwa.edu.au/rett/aussierett/

"The Australian Rett Syndrome Study was established in 1993 to set up a facility for population-based Rett syndrome research in Australia. Research elsewhere has often been based on case series which are not necessarily representative of the underlying population. The Australian Rett Syndrome Study operates from the Telethon Institute for Child Health Research, in West Perth, Western Australia."

InterRett - IRSA Rett Phenotype Database http://www.ichr.uwa.edu.au/rett/irsa/

"Welcome to InterRett, the IRSA 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."

Belgian Rett Syndrome Association http://users.pandora.be/brsv/

French Rett Syndrome Association http://www.syndrome-de-rett.org/

German Rett Syndrome Information http://www.unet.univie.ac.at/~a8800650/index.html

Danish Rett Syndrome Association http://www.rett.dk/

Spanish Rett Syndrome Association http://www.rett.es/

Resources Specifically for Rett syndrome:

Laboratories Testing for MECP2 Mutations

http://www.rsrf.org/rs_labs.shtml

"We now know that mutations in the MECP2 gene causes Rett Syndrome. Knowing the biological marker allows for a molecular diagnosis through blood tests and prenatal screenings which detect mutations in this gene. Currently the laboratories are testing about 50 - 75 percent of the gene. As that percentage grows so does the accuracy of the test. We will update this page as more testing information becomes available."

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://www3.ncbi.nlm.nih.gov/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 OMIM 312750

MeCP2 Entry OMIM 300005

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."

Internet Resources for Special Children http://www.irsc.org/rett.htm

"The IRSC web site is dedicated to communicating information relating to the needs of children with disabilities on a global basis in order to:

Provide valuable information for parents, family members, care givers, friends, educators, and medical professionals who interact with children who have disabilities.
Improve the environment for children with disabilities.
Create positive changes and enhance public awareness and knowledge of children with disabilities.
Act as a central starting point for information and resources."

National Organization for Rare Disorders, Inc. http://www.rarediseases.org/cgi-bin/nord

"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."

Rare Genetic Diseases in Children: an Internet Resource Gateway http://mcrcr2.med.nyu.edu/murphp01/homenew.htm

"Welcome to our web site targeting issues arising from rare genetic diseases affecting children. Being a father of a child with a very rare genetic disorder with no treatment or cure, I understand the hunger for information, contact and consolation."