The whole year the Association worked in its usual mode: published translations, communicated directly with parents, participated in national and international forums on rare diseases and the development of the nonprofit sector, corresponded with the authorities (Ministry of Health, Ministry of Education and Science).
1. The next chapter about life and helping a child with Rett syndrome was translated from the famous book by Cathy Hunter – the founder of the International Association of Rett syndrome
2. The article "Rett syndrome gene MESR2 - Redefining function after 14 years of its discovery" was translated. Dr. Rudolf Jaenisch`s article which will completely change our view of MESR2 was published in the CellStemCell journal last week. There`s also translation of the article "The impact of treatment on IPFR1 stereotypes, attention and social interaction between patients and the Rett syndrome" on Association`s website
3. “The evidence that developmental disorders of the brain stem of Rett syndrome patients lead to problems throughout their lives" article by Peter O.O Julu also was also translated into Russian and published on the website.
On January 8, 2013, a meeting of parents of children with Rett syndrome was held in Moscow. Moms and dads from Moscow, Moscow and Tver region shared their experiences, talked to each other, and relaxed.
Similar meetings have been held in Kazan, Ulyanovsk, St. Petersburg.
2. In Ulyanovsk 9 April 2013 parents of girls with Rett syndrome attended the forum on rare diseases called "All-Russian Society of rare (orphan) diseases."
3. "Development Strategy of Russia in the field of rare (orphan) diseases for the period 2013-2016" has been held on February 28, 2013 with the support of the Ministry of Health of the Russian Federation and the European Organization for Rare Diseases EURORDIS in Moscow; Timutsa O. and N. Lohmanova attended in a roundtable.
"The Information magazine about RS" of our colleagues, association of Rett syndrome in Scotland was published in English. And video presentations about Rett syndrome, which discuss approaches to the study and treatment of Rett syndrome (in English) were also published. Moderator is Monica Koenrads.
1. Neuroscience Conference was held in the city of New Orleans, USA from 13 to 16 October 2012. The conference is held annually and it is a forum of scientists around the world involved in the study of the nervous system in health and disease. No less than 25 reports (both symposium and poster) dedicated to the study of Rett syndrome were presented there, about half of these studies were devoted to developing ways of therapeutic correction of Rett syndrome. V.Y. Voinova attended in the conference.
2. 3rd European Conference on Rett syndrome on "News in research and preventive therapy" was held on 17 -19 October 2013 in Maastricht, the Netherlands. Our members: V.Y. Voinova - Senior Researcher MRI Pediatrics and Pediatric Surgery MoH - and the head of the Moscow group of parents - Lohmanova Natalia.
3. Our volunteer and assistant Liana Murtazina attended in the series of training seminars for professionals on rare diseases in June in Barcelona.
KSMU teachers lectured a group of students consisting of doctors and leaders of patient organizations. On the website you can find the typical questions of parents of children with rare diseases to lawyers and their answers on appeals.