Program

Program of the congress is to be changed, supplemented and clarified. The final version of the program with the names of all the activities will be on the website 1 month prior to Congress. Watch for changes!

Congress consists of the three areas and the exhibition:

The Congress program also includes cultural events, planned sightseeing tour, gala dinner and a concert. Details will be provided later on the site, stay tuned!

Program of the congress, Version 3, adopted on 10th of July, 2015

Day Event Location Kazan Riviera
May 13,
Friday

Registration. Welcome coffee. The opening ceremony. 9:00–11:30

Coffee break 11:30-12:00


Plenary Session. Perspectives of strategic and fundamental research 12:00–15:30


I.Y. Iourov, S.G. Vorsanova, Y.B. Yurov (Moscow, Russia, Moscow) Molecular and cellular mechanisms of Rett syndrome (25 min.)
A. Percy (Birmingham, USA) What do we know about Rett syndrome today (video lecture) (20 min.)
H. Leonard (Perth, Australia) Rett syndrome journeys: What Russia and the World can learn from the experience of International and population-based registries of Rett syndrome (25 min.)

Open lectures. Rett syndrome research.

Chairman : I.Y. Iourov (Moscow, Russia)

S. Naidu (Baltimore, USA) Biological basis of Rett syndrome treatment (20 min.)
J. Lane (USA) Sexual maturation and transitional care for older individuals with RTT (15 min.)
J.-C. Roux (France, Marseille) From pharmacology to gene therapy in Rett Syndrome (15 min.) 
H.Y. Zoghbi (USA) Welcoming video (15 min.)

Scientific symposium (Rare disorders I)

Chairmen:  M. Hulten (Sweden & UK), S.I. Kutsev (Moscow, Russia) , I.Y. Iourov (Moscow, Russia) 

M. Hulten (Sweden & UK) Rare chromosome disorders: a "unique" experience (20 min.)
S.I. Kutsev (Moscow, Russia) Diagnosis and treatment of hereditary orphan diseases in the Russian Federation (20 min.)
I.Y. Iourov (Moscow, Russia) Molecular diagnosis of rare diseases by the means of post-genomic technologies (15 min.)


Scientific symposium. Continuation. Genomic and chromosomal disorders of the brain. 16:00–18:00.

Chairmen: Y.B. Iourov (Moscow, Russia), S.G. Vorsanova (Moscow, Russia)

V.Y. Voinova, S.G. Vorsanova, Y.B. Iourov (Moscow, Russia) Children with Х-linked mental retardation (20 min.)
T. Liehr (Jena, Germany)
Molecular cytogenetic rare diseases (30 min.)
V.I. Larionova (Saint Petersburg, Russia) Problems of the research of rare genetic diseases in Russia (20 min.)
T.P. Klyushnik, S.A. Zozulya, L.V. Androsov (Moscow, Russia) Role of immune mechanisms in the pathogenesis of brain diseases (20 min.) video lecture
S.G. Vorsanova, I.Y. Iourov (Moscow, Russia) Rare chromosomal diseases in the Russian Federation (30 min.)

"Hermitage" Conference Hall

































«Admiralskiy» conference room
May 14,
Saturday

«Rett syndrome. Clinical aspects of Rett syndrome» section
9:00–12:30.
Chairmen: S. Budden (Portland, USA), V.Y. Voinova (Moscow, Russia)

Reports

V.Y. Voinova (Moscow, Russia) Russian Rett syndrome cohort (25 min.)
S. Budden (USA) Emotions and Behavior in Rett syndrome and their management (25 min.)
S. Budden (USA) Disturbed Autonomic nervous system in Rett syndrome (25 min.)

E.E.J. Smeets (Maastricht, Netherlands) (25 min.)

L.M.G. Curfs (Maastricht, Netherlands) (25 min.)

M. Coenraads (USA) Rett Syndrome Research Trust (video lecture) (25 min.)


«Rett syndrome. Molecular diagnosis in Rett syndrome» section. 9:00–12:30.
Chairmen: S.G.
Vorsanova (Moscow, Russia), Y.B. Iourov (Moscow, Russia)

Y.B. Iourov, S.G. Vorsanova, M.A. Zelenova, I.Y. Iourov (Moscow, Russia) Molecular cytogenetic diagnosis of microdeletions in Rett syndrome (20 min.)

I.A. Akimova (Moscow, Russia) NGS in the diagnosis of Rett syndrome (20 min.)

O.S. Kurinnaia, Y.B. Iourov, S.G. Vorsanova, K.S. Vasin (Moscow, Russia) Analysis of genomic variations in children with "Rett-like" phenotype (20 min.)

K.S. Vasin, S.G. Vorsanova (Moscow, Russia) Bioinformatic analysis of the duplication of 11p15 in two individuals with "Rett-like" phenotype (20 min.)

M.A. Zelenova, S.G. Vorsanova, I.Y. Iourov (Moscow, Russia) Duplication spanning 1q21.1q21.2 may be associated with "Rett-like" phenotype and intellectual disability (20 min.)

S.G. Vorsanova, Y.B. Iourov, I.A. Demidova, I.Y. Iourov (Moscow, Russia) The contribution of Russian researchers to the study of Rett syndrome (30 min.)


Coffee break
12:30-13:00.


«Rett syndrome. Treatment perspectives. Analysis of complex cases and case histories» section. 13:00-18:00.

Chair: H. Leonard (Australia), V.Y. Voinova (Moscow, Russia), V.I. Larionova (Saint-Petersburg, Russia)

Reports:

N.E. Kvaskova (Moscow, Russia) EEG features in children with Rett syndrome. (25 min.)

M.A. Bulatnikova (Saint Petersburg, Russia) Two cases of cardiofaciocutaneous syndrome in children without abnormalities of the heart, caused by a mutation in the BRAF gene. (25 min.)
S. Budden (USA) Stages of motor function in Rett syndrome and its treatment (25 min.)

M. Freilinger (Austria) (25 min)

N. Sangani (Australia) HDAC6 Inhibitors, a novel therapeutic approach for Rett Syndromе (20 min.) 

Grasiana Yusuf Inaya (USA) Minding our own (documentary, 40 min.)

Break 15:00-15:15


«Rare Diseases II» section, 13:00-15:30.

Chair: Anna Tilki-Schimanska, S. Y. Volgina, M.B. Belogurova

Reports:

Belogurova M. B. (Saint Petersburg, Russia) Gaucher's disease: clinical presentation and modern approaches to diagnostics and treatment (20 min.)

V.Y. Voinova (Moscow, Russia) the H-linked mental retardation in children (20 min.)

S.Y. Volgina (Kazan, Russia) Diagnostics and modern methods of correction of the hereditary deficiency of lipoprotein lipase (20 min.)

N.P. Kotlukova (Moscow, Russia) Pompe disease through the eyes of a pediatrician (20 min.)

 Anna Tilki-Schimanska (Poland) Metabolic diseases and the possibilities of their treatment (20 min.)

E.V. Polevichenko (Moscow, Russia) Resources of palliative care to children with rare diseases in the Russian Federation (20 min.)

E. Eliseeva (Vladivostok, Russia) The organization of high cost diseases drug supply (20 min.)

«Rare Diseases III» section, 16:00-18:00.

Chair: V.I. Larionova, N.W. Demikova, E.A. Nikolaeva

Reports:

T.V. Podkletnova (Moscow, Russia) Hunter Syndrome – a modern view on clinical manifestations, diagnostics and treatment (40 min.)

V.I. Larionova (Saint Petersburg, Russia) Rare and hereditary diseases with  skeletal lesions. Modern approaches and strategy of treatment (20 min.)

N.S. Demikova, A.Y. Asanov (Moscow, Russia) Problems of diagnostics of rare syndromes with congenital malformations (20 min.)

S.I. Polyakova (Moscow, Russia) Urea cycle disorders - our first steps (20 min.)

E.A. Nikolaeva (Moscow, Russia) Diagnostics and treatment of the mitochondrial diseases in children (20 min.)

«Lagoon» conference room














«Cote d'Azur» (Lazurniy Bereg) conference room

















«Lagoon» conference room


















«Cote d'Azur» (Lazurniy Bereg) conference room
















«Cote d'Azur» (Lazurniy Bereg) conference room











May 15th
Sunday

Meeting of the speakers and the parents 10:00-14:00 Consultations for parents

Helen Leonard (Perth, Australia)

Sakkubai Naidu (Baltimore, USA)

V.Y. Voinova (Moscow, Russia)

Helena Wandin (Rett Center, Sweden) 
Märith Bergström-Isacsson (Rett Center, Sweden) 

Sarojini Budden (Portland, USA)

Gerard Nguyen (Paris, France)

Ilona Absandze (Moscow, Russia)

Meir Lotan (Ariel, Israel)

Nadezhda Kvaskova (Moscow, Russia)

Leopold M. G. Curfs (Netherlands)

Eric E.J. Smeets (Maastricht, Netherlands)

Michael Freilinger (Vienna, Austria)

Lyceum 10:00-14:00

10:00-14:00 Workshop on music therapy with Helena Wandin and Märith Bergström-Isacsson (Sweden)

10:00-11:00. Lecture for parents “Nutritional support in the complex palliative care for children with rare diseases” Yelena V. Polevichenko (Moscow, Russia), MD, professor of the chair of oncology, hematology and radiotherapy of The Pirogov Russian National Research Medical University (RNRMU), a member of the Board of the Association of hospice care.

 

11:00-12:00. «Patient's voice» workshop. How to be a patient representative and a patient advocate. Gérard Nguyen (Paris, France), former president of Rett Syndrome Europe.

 

12:00-12:30. Meeting with parents on the topic of Clinical studies on Rett syndrome. Prospects of specialized centers and patient involvement in clinical trials.

Mark Y. Tulchinsky, Contract Research Organization "Pivotal", Medical Director for Central and Eastern Europe (Spain).

 

13:00-14:00 Lecture for parents. Rett syndrome and walking. Meir Lotan (Israel), Professor is a physiotherapist working as Senior lecturer at the School of Health Sciences, Department of Physical Therapy, Ariel University, Ariel, Israel

 

12:00-13:00 coffee break

 

14:00-16:00. Discussion platform for parents. The child's age: problems of a certain period, how to solve the problem and how to provide support.

 

Presentations:

Anastasiya Ivantsyk, Moscow. daughter Sophia, 3 years old.

Liubov Beloborodova, Moscow, daughter Elizaveta, 6 years old.

Natalia Lokhmanova, Moscow, daughter Alyona, 7 years old.

Tatiana Demina, Orenburg, daughter Yulia, 13 years old.

Svetlana Veryugina, Ulyanovsk, daughter Alyona, 21 years old.

Children's Republican Clinical Hospital,

Orenburgskiy tract, 140, Kazan
May 16th
Monday
«The centers for children with Rett syndrome. The role of a team of experts in providing personified help to a child with Rett syndrome», section 8:30-10:45  

Moderators: I.F. Sibgatullina, director of the international cooperation of the Austrian institute of assistance to intellectual development of RBS (Austria, Vienna).

Alice Vanchova, Institute of education, University of Bratislava (Slovakia).

Reports:

Sarojini Budden (Portland, USA) Rehabilitation of patients with Rett syndrome (20min.)

Helena Wandin (Stockholm, Sweden) National Swedish Rett center –  interprofessional approach and key values (20min.)

Märith Bergström-Isacsson (Rett Center, Sweden) Music makes a difference (20min.)

Jorma Syväjärvi (Finland) About the centers of rehabilitation and leisure for special people in Finland (10min.)

Meir Lotan (Israel) The Israel center for children with Rett syndrome (20 min.)

Samir Seyfi (India) Support of children with Rett syndrome from Rett association and the government of India (10min.)

Natalya Trifonova, Firuza Lukonina (Russia) the «April» rehabilitation center for children and teenagers with special needs (10min.)

Marina Parazyan (Armenia) «Center from scratch» workshop (20min.)

10.45-11.00  break


11:00-12:45 «Alternative methods of communication and psychological support», round table.

Moderators: N.N. Trifonova, the director of the «April» rehabilitation center for children with special needs (Kazan, Russian), O.V. Timutsa, PhD in Sociology, chairman of the board of Autonomous Non-Commercial Organization «Rett syndrome Association»

Reports:

Kathy Hunter (USA) The role of the parental movement in creating a system of psychological support for the families with children with Rett syndrome (15min.)

Alyona Akulova (Belarus) Life after the diagnosis: how could the parents and family members live through a child`s serious chronic disease; searching for resources for living (10min.)

T.B. Budiltseva Experience of working with children with Rett syndrome in the Center of medical pedagogics in Moscow (Russia) (20min.)

Alice Vanchova (Slovenia) «Hand-Brain» Program (15min.)

Helena Wandin (Sweden) Communication Strategy - evidence and experience (15min.)

Elena A. Surenyan (Russia) Teaching a child with Rett syndrome how to write (personal experience) (10min.)

Anastasia Handazhinskaya (Russia) Way to school (10min.)

Alyona Akulova (Belarus) The use of singing as a basis for artificially recreating the ontogeny of speech in nonspeaking children with intact hearing and concomitant complex developmental disorders.

Caroline Lietaer (Belgium) An experienced mother will give you PRACTICAL advice  on how you can  communicate using simple techniques and speech icons buttons (10min.)


«Physiotherapy and ergo therapy approaches and practices», round table. 11:00-12:45

Moderators: O.L. Goncharova, Ph.D, director of the «Voskhozhdenie» Rehabilitation Center for disabled people, O.N. Morozova, director of «Window in hope» Charitable Foundation

Reports:

N.L. Fokina (Russia) Classes with children with Rett syndrome in the swimming pool. Experience in the Center of medical pedagogics (Moscow) (20 min.)

I.A. Absandze (Russia) Postural Management: Positioning, movement mode, preventing contractures (20 min.)

Meir Lotan (Israel) Physiotherapy with Rett syndrome, approaches and practices (25 min.).

Jorma Syväjärvi (Finland) Adulthood of Catharina: the accompanied living and active life (15 min.)

Yelena Kozachenko (Russia) «Ski of a Dream» Program (25 min.).

Adelina Mingazova (Russia) «Hippotherapy» Program (10 min.).

Reception in Town Hall. 14:00-16:00


«Cote d'Azur» (Lazurniy Bereg) conference room















«Cote d'Azur» (Lazurniy Bereg) conference room















«Lagoon» conference room

May 17th
Tuesday

Tour to the children's and adult rehabilitation centers (Kazan)

«April» Rehabilitation Center for Children with Disabilities (Kazan, Russia)

«Voskhozhdenie» Rehabilitation Center for Disabled People (Kazan, Russia)


14:00-16:00. «Mass media, the religious and volunteer organizations about those who can't be cured» round table in the hospice.

Chairmen: Head of the Kazan hospice V.V. Vavilov, head of the «Rett Syndrome Association» O.V. Timutsa.

Moderator: Ph.D., Associate Professor of Kazan State University of Architecture and Civil Engineering O.Y. Poroshenko.


 

The organizers of the Congress

With support of the President of the Republic of Tatarstan RN Minnikhanov president.tatarstan.ru.


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Guests of the Congress

Representatives of the Federation Council and the State Duma of the Federal Assembly of the Russian Federation, members of the Public Chamber of the Russian Federation, specialists of relevant ministries, and representatives of patient organizations, scientists and experts, international organizations, parents of children with Rett syndrome, all interested citizens are invited to the congress.


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