Scientific Committee and Speakers

Scientific Committee

Иван Юрьевич Юров

Ivan Y Iourov

PhD, Doctor of Science, Professor of Medical Genetics, Head of Laboratory of Molecular Genetics of the Brain at Mental Health Research Center, Managing/Section Editor of Molecular Cytogenetics (BioMedCentral-Springer) Editor-in-Chief of Journal of Neurology and Epidemiology

Доктор Кларк Ангус

Angus Clarke

DM, FRCP, FRCPCH, Professor and Consultant in Clinical Genetics at Cardiff University, Wales, UK

Доктор Эрик Э.Дж. Смитс

Dr. Eric E.J. Smeets

MD, PhD, is a consultant pediatrician and child neurologist at the Department of Clinical Genetics of the Maastricht University Medical Center, the Netherlands

Профессор Меир Лотан

Professor Meir Lotan, PhD

Professor is a physiotherapist working as Senior lecturer at the School of Health Sciences, Department of Physical Therapy, Ariel University, Ariel, Israel

Профессор  Алессандра Рениери

Alessandra Renieri, M.D. Ph.D

Full Professor of Medical Genetics University of Siena, Siena, Italy Director of Medical Genetics Unit Azienda Ospedaliera Universitaria Senese, Siena, Italy

Лоран Виллард

LAURENT VILLARD, PhD

Research Professor at Inserm Human Neurogenetics Laboratory Medical Genetics Unit Marseille - France

Профессор д-р. Леопольд М. Г. Керфс

Prof. dr. Leopold M. G. Curfs

Director of the Governor Kremers Centre at the Academic Hospital Maastricht and Maastricht University

Алан Перси

Alan Percy, MD

Pediatric Neurologist Place of Work: University of Alabama at Birmingham

Хелен Леонард

Dr Helen Leonard

Principal Research Fellow at the Telethon Kids Institute in Western Australia.

Светлана Григорьевна Ворсанова

Svetlana G Vorsanova

PhD, Doctor of Sciences, Professor, Academician of Russian Academy of Natural History, Head of Laboratory of molecular cytogenetics of neuropsychiatric disorders at Research and Clinical Institute for Pediatrics at the Pirogov Russian

Юрий Борисович Юров

Yuri B Yurov

PhD, Doctor of Sciences, Professor, Academician of Russian Academy of Natural History, Head of Laboratory of cytogenetics and genomics of psychiatric disorders at Mental Health Research Center

Саккубай Найду

Sakkubai Naidu

Professor, Departments of Neurology and Pediatrics, Johns Hopkins University, School of Medicine, Baltimore, MD

Бертран Томас

Thomas Bertrand, PhD

Head Laboratory, President of Rett Syndrome Europe (RSE)

Йосико Номура

Yoshiko Nomura

M.D. Ph.D. Visiting Staff in Department of Pediatric (Pediatric Neurology), Teishin Hospital, Tokyo, Japan

Ivan Y Iourov

Иван Юрьевич Юров

PhD, Doctor of Science, Professor of Medical Genetics, Head of Laboratory of Molecular Genetics of the Brain at Mental Health Research Center, Managing/Section Editor of Molecular Cytogenetics (BioMedCentral-Springer) Editor-in-Chief of Journal of Neurology and Epidemiology

Ivan Iourov defended his thesis "Epigenetic and genetic features of Rett syndrome" in 2004 and doctoral thesis "Structural and functional organization of chromosomes in the neuropsychiatric diseases" in 2011. He has been working in the field of molecular genetics and biological psychiatry since 1999 and is the co-author of three books ("Heterochromatic regions of human chromosomes, clinical and biological aspects of", "Human interphase chromosomes: biomedical aspects", "Genomic and chromosomal diseases of the central nervous system: molecular and cytogenetic aspects"), one patent (RU 2425890 C2), 210 journal articles and book chapters and over 400 abstracts. He is the founder, executive and section editor of Molecular Cytogenetics, chief editor of Journal of Neurology and Epidemiology, and member of the editorial boards of the journals «Current Genomics» and «Current Aging Science». Professor I.Y. Iourov has received a number of awards, including N.I. Vavilov medal for outstanding achievements in genetics, V.A. Tabolin award for outstanding scientific achievements in pediatrics, “Scopus Award Russia” for outstanding contributions to medical science, V.M. Bekhterev prize in neurology and psychiatry; the grant of the President of the Russian Federation.

Angus Clarke

Доктор Кларк Ангус

DM, FRCP, FRCPCH, Professor and Consultant in Clinical Genetics at Cardiff University, Wales, UK

He has interests in relation to Rett syndrome are the clinical and molecular genetics of Rett syndrome, the manage, went of difficult clinical problems, and the development of outcome measures for clinical trials. He also has research interests in ectodermal dysplasia. More generally, he has research interests in the process of genetic counseling, the social and ethical aspects of developments in human genetics and newborn screening for genetic disorders.

Dr. Eric E.J. Smeets

Доктор Эрик Э.Дж. Смитс

MD, PhD, is a consultant pediatrician and child neurologist at the Department of Clinical Genetics of the Maastricht University Medical Center, the Netherlands

He has a long standing experience with developmental disorders and genetic syndromes in children and adults with intellectual disability. He is the author and co-author of several articles on Rett syndrome and MECP2 related disorders. Together with prof. L. Curfs and dr. D. van Waardenburg he heads up the Rett Expertise Centre for the Netherlands, in Maastricht. His special interests are clinical management and brainstem physiology in Rett syndrome.

Professor Meir Lotan, PhD

Профессор Меир Лотан

Professor is a physiotherapist working as Senior lecturer at the School of Health Sciences, Department of Physical Therapy, Ariel University, Ariel, Israel

He is affiliated with the Israeli National Rett Syndrome evaluation team. He has been involved with individuals with Rett syndrome for the past 23 years, as a consultant, clinicians, and as a researcher. Meir Lotan has written several books and many articles regarding Rett syndrome over the past years, and was awrded for his devotion to Rett syndrome by IRSA on 1999, as well as for his contributin to research in Rett syndrome by IRSF in the year 2014.

Alessandra Renieri, M.D. Ph.D

Профессор  Алессандра Рениери

Full Professor of Medical Genetics University of Siena, Siena, Italy Director of Medical Genetics Unit Azienda Ospedaliera Universitaria Senese, Siena, Italy

Her main research interest has always been the study of the genetic basis of of rare diseases, with a special focus on Rett syndrome, and other conditions with intellectual disabilities (ID), Alport syndrome, retinoblastoma and other rare cancers. She identified two new genes disease: FACL4 gene for X-linked ID and FOXG1 gene for Rett syndrome. Her laboratory was among the first in Italy to introduce the technology of array-CGH and of Next Generation Sequencing. She has been involved in research on Rett syndrome for many years and she contributed to the identification of all 3 known genes presently associated to the disease, as well as to the definition of the associated clinical phenotype. In particular, her group identified FOXG1 as the first autosomal gene involved in Rett syndrome. Her laboratory is a referral center for Rett in Italy and, since 2002, she directs the Genetic Biobank of Siena (GBS, http://www.biobank.unisi.it), one of the few in Italy certified SIGU-CERT and ISO9001. GBS is the Italian Partner of BBMRI (Biobanking and Biomolecular Resources Research Infrastructure), member of EuroBioBank and RD-Connect. Within GBS there is a section dedicated to Rett syndrome that collects both samples and accurate patients clinical information (http://www.biobank.unisi.it/Elencorett.asp). Since 2009 she coordinates the international Rett database network (http://www.rettdatabasenetwork.org). In order to create a human cellular model for the study of the pathogenic mechanisms of Rett syndrome directly in human affected neurons, she set up the technique of genetic reprogramming in her laboratory (iPS). Research activities of Prof. Alessandra Renieri are substantiated by 180 original publications on international journals with a total IF of 801,858. She is author of 3 book chapters, 8 reviews made by request, and one N&V in Nat Genet. She has a H-index of 35, with a number of total citations of 4,605 and a number of articles in the last 10 years of 119.

LAURENT VILLARD, PhD

Лоран Виллард

Research Professor at Inserm Human Neurogenetics Laboratory Medical Genetics Unit Marseille - France

After a PhD in human genetics during which he took part in the mapping of the human genome, Laurent Villard performed post-doctoral research on Down syndrome in Denver (CO, USA). In 1997, he became Associate Professor at the French National Institutes of Health (Inserm) to study the genetic basis of intellectual disability. He conducted an extensive work on the X-linked alpha-thalassemia mental retardation (ATR-X) syndrome. In 2002, he was made Research Professor and he currently leads a group whose research interests include Rett syndrome and neonatal epilepsies (www.germaco.net). His Rett syndrome projects are focused on translational approaches and therapeutic development using pre-clinical models. He serves as an expert in several scientific advisory boards, is a member of the Rett Syndrome Networked Database, of the patient support groups think-tank (Gram) at Inserm and he was the coordinator of the former EuroRETT ERA-Net network. He teaches human and medical genetics and he is an author of >100 scientific publications during the last 20 years (about a third on Rett syndrome).

Prof. dr. Leopold M. G. Curfs

Профессор д-р. Леопольд М. Г. Керфс

Director of the Governor Kremers Centre at the Academic Hospital Maastricht and Maastricht University

He has a long standing experience with developmental disorders and genetic syndromes in children and adults with intellectual disability. He has published and presented extensively on medical, behavioral and psychiatric aspects of genetically determined neurodevelopmental disorders (e.g. Rett). He is the founder of the Rett expertise Centre in the Netherlands, officially recognized by the Dutch Government and together with dr. Smeets and dr. D. van Waardenburg he heads up this Rett Expertise Centre for the Netherlands. His special interests are clinical management, behavioral aspects and brainstem physiology in Rett syndrome.

Alan Percy, MD

Алан Перси

Pediatric Neurologist Place of Work: University of Alabama at Birmingham

Principal Academic Interests: Rett syndrome and related neurodevelopmental or neurodegenerative disorders of children. Research: Principal Investigator of NIH-funded Natural Istory Study of Rett Syndrome, MECP2 Duplication Disorders, and other Rett-related Disorders

Dr Helen Leonard

Хелен Леонард

Principal Research Fellow at the Telethon Kids Institute in Western Australia. Associate Professor, Centre for Child Health Research, University of Western Australia

For 20 years her clinical practice primarily involved the management of children and adults with intellectual disability and rare diseases. Over a relatively short research career commencing in 1995, she has taken a leading role in developing a research infrastructure to study intellectual disability generally as well as in relation to those specific disorders, both rare and common, which involve a major burden for the affected child, their family and the community. In 1992 she first established the internationally unique population-based Australian Rett Syndrome Database and have maintained this register since that time. In 2002 she set up the International Rett Syndrome Foundation Phenotype Database, InterRett, which has now collected data on over 2000 individuals from 48 countries. She is also a member of an exciting and innovative autism registry collaboration, which provides the infrastructure to undertake pooled analyses of international data, and is now funded by NIH as a “virtual and global” Autism Centre of Excellence. Her role in the establishment and securing of the Western Australian Intellectual Disability Database (IDEA) - a population-based research resource - is a major contribution to the health and well–being of an oft-neglected sector in society. This database is unique in Australia and one of the few in existence worldwide and is an extremely important public health asset. Since commencing active research in 1998 (and on a part-time basis for seven years), she has co-authored over 180 journal articles (in over half as first or senior author), as well as 12 book chapters and eight reports. On the topic of Rett syndrome she is one of the most highly published authors over the last decade and also a senior editor of a book being compiled on its clinical aspects. 2008 – Circle of Angels Research Award for contribution to Rett syndrome research internationally-awarded by International Rett Syndrome Foundation.

Svetlana G Vorsanova

Светлана Григорьевна Ворсанова

PhD, Doctor of Sciences, Professor, Academician of Russian Academy of Natural History, Head of Laboratory of molecular cytogenetics of neuropsychiatric disorders at Research and Clinical Institute for Pediatrics at the Pirogov Russian National Research Medical University, Ministry of Health, Moscow

Professor Vorsanova is a head of of Laboratory of molecular cytogenetics of neuropsychiatric disorders at Research and Clinical Institute for Pediatrics at the Pirogov Russian National Research Medical University. She has more than 750 (H-index=30) publications in leading Russian and international scientific journals being also the author of 5 monographs and educational textbooks. She is a member of numerous expert committee member («Molecular Cytogenetics» (Springer), «Journal of Pediatric Neurology», «Journal of Pediatric Genetics», «Journal of Pediatric Neuroradiology», «Journal of Medical Case Reports», «Journal of Medicine and Medical Sciences»). Professor Vorsanova’s advances in scientific field are marked with honorary titles "Honored Worker of Health of the Russian Federation", "Honored Worker of Science and Education", "The founder of the scientific school", certificates of honor of Ministry of Health of the Russian Federation, medal named after N.I. Vavilov for outstanding work in the field of genetics and A. Nobel’s medal for contribution to the development of innovation. She is elected as a member of the New York Academy of Sciences. She is also a winner of the national award "For outstanding achievements in the development of Russian science", Prize named by V.M. Bekhterev in neurology and psychiatry, and a prestigious international award “Scopus Award Russia” in the field of medicine "for outstanding contribution to the science of medicine"

Yuri B Yurov

Юрий Борисович Юров

PhD, Doctor of Sciences, Professor, Academician of Russian Academy of Natural History, Head of Laboratory of cytogenetics and genomics of psychiatric disorders at Mental Health Research Center

Professor Yurov is a head of laboratory of cytogenetics and genomics of psychiatric disorders at Mental Health Research Center. He has more than 750 publications and also is the author of 5 monographs and educational textbooks. With h-index equal to 35, he is a co – founder and editor-in-chief of «Molecular Cytogenetics» (Springer) and a member of editorial board of «Journal of Pediatric Neurology», «Current Aging Science», «World Journal of Psychiatry». Scientific achievements of Professor Yurov are marked with the honorary titles of "Founder of a scientific school", medal of A. Nobel for contribution to the development of inventions and N.I. Vavilov’s medal for outstanding work in the field of genetics, as well as many awards and diplomas of Russian Academy of Medical Sciences. He is the winner of the national award "For outstanding achievements in the development of Russian science," Prize named by V.M. Bekhterev in neurology and psychiatry, and a prestigious international award “Scopus Award Russia” in the field of medicine "for outstanding contribution to the science of medicine".

Sakkubai Naidu

Саккубай Найду

Professor, Departments of Neurology and Pediatrics, Johns Hopkins University, School of Medicine, Baltimore, MD Pediatric Neurologist, Kennedy Krieger Institute, Baltimore, MD Member of American Academy of Neurology American Neurological Association Child Neurology Society International Child Neurology Society Neurological Society of India Society for Inherited Metabolic Diseases New York Academy of Sciences. Pelizaeus-Merzbacher Disease Scientific Board. Scientific Advisory Board, Intl Rett Syndrome Foundation Medical & Scientific Advisory Board, United Leukodystrophy Foundation Guest editor, Annals of Neurology Guest editor, Neurology Chair, Int’l 2nd Opinion Network: Leukodystrophies of Unknown Cause.

Correlative clinical, genetic and biochemical studies in neurodegenerative disorders, including Rett Syndrome; leukodystrophies, women heterozygous for adrenoleukodystrophy, and neuronal ceroid lipofuscinosis. Lifetime Achievement Award, United Leukodystrophy Foundation Art of Caring Award, Rett Syndrome Foundation Lifetime Achievement Award, American Academy of Neurology/Assoc of Indian Neurologists in America Hower Award from the Child Neurology Society of America. 164 Publications in journals, 1 book, 43 chapters, 153 abstracts.

Thomas Bertrand, PhD

Бертран Томас

Head Laboratory, President of Rett Syndrome Europe (RSE)

Head Laboratory of Structural Biology & Biophysics - Department of Lead Generation to Candidate Realization Sanofi Research & Developpment, Paris Specialized in Structure-Based Drug Design in therapeutic areas such as Oncology, Diabetes, Cardiovascular, Anti-infectious, Brain disorders or Rare diseases from discovery leads to preclinical candidate drugs. Administrator in the French Rett Syndrome Association (AFSR) President of Rett Syndrome Europe (RSE) Father of Margot, 9 years old, born with Rett syndrome.

Yoshiko Nomura

Йосико Номура

M.D. Ph.D. Visiting Staff in Department of Pediatric (Pediatric Neurology), Teishin Hospital, Tokyo, Japan

Director of Yoshiko Nomura Neurological Clinic for Children, Tokyo Japan<br> Member of International Child Neurology Association<br> American Academy of Neurology<br> American Neurological Association<br> International Basal Ganglia Society<br> Movement Disorder Society<br> <br> Japanese Society of Child Neurology<br> Japanese Society of Neurology<br> Japanese Society of Neuropathology<br> The Japanese Society of Clinical Ecology<br> Japanese Headache Society<br> Japanese Society of Sleep Research<br> Japan Epilepsy Society<br> Japanese Society of Pediatrics<br> Japanese Association of Clinical Neurophysiology<br> Movement Disorder Society of Japan<br> <br> Research Activities: basal ganglia disorders, Rett syndrome, Gilles de la Tourette syndrome, Myasthenia gravis, Congenital muscular dystrophy, Muscle diseases, Autism, Neurobiological studies on sleep, Heredodegenerative diseases

Speakers

Michael Freilinger

Михаэль Фрайлингер

Prof. Dr., MD

Associate Professor of Pediatrics Consultant in Child Neurology Consultant in Child and Adolescent Psychiatry Department of Pediatrics and Adolescent Medicine Medical University Vienna, Austria

Sarojini Budden

Сарожини Бадден

MD, FRCP C, FAAP

I am a Developmental Pediatrician and Emeritus Associate Professor of Pediatrics and Adjunct Emeritus Professor of Community Health Systems and Family Nursing at Oregon Health and Sciences University (OHSU) I am the past Medical Director of the Neurodevelopment Program at Child Development and Rehabilitation Center OHSU which was then the Cerebral Palsy Program when I was appointed. I reorganized this program and renamed it in 1980. I am also the Founder and Past Medical Director of the Pediatric Development Program at Legacy Emanuel Children’s Hospital and Pediatric Consultant to the Providence Neurodevelopment Center for Children. I am Past President of the Oregon Pediatric Society (OPS). I Co-founded the NW Society for Developmental and Behavior Pediatrics and served as President for 8 years. This society brought together physicians from BC, Canada, states of WA, OR, WY, MT and Idaho with similar interests and specialty in Developmental Pediatrics. I have served on several local national and international boards and scientific advisory committees. I have been involved in organization of international meetings on Cerebral Palsy, Rett syndrome and Childhood disability in several countries. My focus has been on Rett syndrome. I served on the Board of United Cerebral Palsy Association of Oregon and Washington and Founded the Family support group which is currently serving families in the NW and provides annual educational meetings I co-founded The NW Rett syndrome Foundation (NWRSF) with 5 families in 1985. This association provides annual educational meetings for families, therapists, educators and physicians on Rett syndrome. Besides the grants for small studies, NWRSF continues to provide a forum for education and research update for families at the annual Rett Syndrome Conference. I was instrumental in getting the team approach to Rett syndrome and started the program at Oregon Health and Science University and also at Emanuel Children’s Medical Center. This team approach has become a model for the beginning of clinics here and in Canada. I have been an invited speaker in several European countries, UK, India, Japan, Canada, and Kenya regarding team approach for care of children with Rett syndrome and other developmental disabilities. I have served as a member of the Oregon Medical Board, appointed by the Governor. I served on the Board of Trustees for Linfield College with a specific interest in their nursing program. I initiated a community forum for Oregon to train doctors in early recognition of Autism and I am involved with the Oregon Commission on Autism. I was appointed by the Governor to The State Commission for Children and Families I have been the recipient of several appreciation awards from regional national and inter-national Rett syndrome Associations and United Cerebral Palsy Association. I received the following awards “Carpe Diem” award for services to special needs children given by the American Cancer Society, “Timothy Campbell Award” received from practicing pediatricians for Pediatric Subspecialty Services provided to community, “Treasure of Emanuel” Award given by the Legacy Emanuel Foundation. Governor’s Exemplary Community Award for services provided through the Pediatric Development Program Legacy Emanuel Children’s Hospital. I was recognized and awarded by Marylhurst University as a “Woman of Distinction in Science” I am currently a Consultant in Developmental Pediatrics at the Providence Neurodevelopmental Center for Children and do the Neo-natal High Risk Clinic and consultations for the community on children who present with diagnostic problems. I continue to be involved as a Consultant and Speaker for Rett syndrome, Autism and Cerebral palsy and follow up of High Risk New Born Infants. More recently in February 2013 I was invited to speak at the International conference on Developmental Disabilities in India. I was invited as a consultant in Italy to speak on management of Rett syndrome 2014 and in Rome 2015 for the European Congress on Rett Syndrome. My husband, Moir and I have been serving as the medical team in Guatemala with Mission Impact through our church. I have also been involved with MEI (Medical Education International) in teaching in Nairobi, Kiev, Almaty, and Skopje.

Jean-Christophe Roux

Жан-Кристоф Ру

Research scientist (DR2 INSERM) UMR_S910; Medical Genetics and Functional Genomics

I have a long-standing interest in developmental neurophysiology since 2000 (PhD). As a postdoc, in the Karolinska institute (Sweden) I participated in research on the development of respiratory control at birth. Now I am pricipal invistigator in the field of Rett syndrome. In our team are studying in vivo and in vitro animal models of Mecp2 dysfunction. Autonomic function (and more specifically respiration) is strongly impaired in MECP2-pathies. For several years, we have been studying this aspect in the Mecp2-deficient mouse. We were able to identify the cause of respiratory disorders in the Mecp2-deficient mouse. Subsequently, we have proposed a pharmacological treatment designed to stimulate specific noradrenergic neurons in vivo. The treatment improves the respiratory rhythm of the affected animals for several weeks and it significantly increases their lifespan. Our results laid the setting of a phase IIa clinical trial under the supervision of Professor Josette Mancini (Pediatric Neurology Dpt., Marseille University Hospital). Thereafter, we have extended our research to other biogenic amines and other brain structures. First of all, we were able to detect abnormalities in the dopaminergic substantia nigra pars compacta (SNpc), a key brain area for the development of motor strategies (Panayotis et al. 2011). We characterized the progression of motor dysfunction in the Mecp2-deficient mouse and found that Mecp2-deficiency results in sequential deficits in the SNpc neurons, with an initial global reduction of Th expression followed by a decrease in the amount of active enzyme as the disease progresses (Panayotis et al. 2011). Finally, using L-Dopa treatment, an anti-parkinsonian treatment, we were able to alleviate some of the motor deficits. Thereafter, we made an important discovery demonstrating that axonal transport is altered in the absence of Mecp2 (Roux et al., 2012). We showed that the velocity of Bdnf containing vesicles in the axon of Mecp2-deficient neurons is reduced and that re-expression of Mecp2 in these cells is able to rescue this phenotype. We also shown that cysteamine treatment, known to restore intracellular dynamics and BDNF secretion, improved lifespan and motor deficits in mouse model of RTT (Roux et al, 2012). A new clinical trial is being set up in Paris. Currently we developed a project of genetic therapy. Using a codon-optimized mouse version of Mecp2 (MCO) under the control of a short Mecp2 promoter, we have demonstrated the efficacy of our strategy to improve motor and autonomic phenotypes after tail vein injection of AAV9 vectors.

Valentina Larionova

Валентина Ларионова

MD, professor, doctor of the highest category physician-geneticist

Since 2012 till now she is a Professor of Pediatrics and Pediatric Cardiology at Northwestern State Medical University named after II Mechnikov and lectures on the diagnosis of hereditary metabolic diseases. Since 2012 to the present time she is a senior research fellow at the Research Institute of Children's orthopedics named after GI Turner as well as she is the head of genetic laboratory. In 2014 she has established clinical site on the basis of the clinic of the Institute of Experimental Medicine to help adult patients with hereditary metabolic diseases. In June, 2015 - Center for Rare Diseases and Molecular Medicine. She actively collaborates with various medical professional societies not only in Russia, but also in Europe. She is a board member of the Russian Society of Medical Genetics, the head of the North-West Branch of the Interregional Society of personalized medicine, she is the director of direction for rare and hereditary diseases in the EPMA of Russia, Presidium member of the "National Council of Experts on Rare Diseases," scientific adviser of "Academy of Molecular Medicine." She belongs to the editorial board of the journal "Clinical and laboratory consultation", Scientific-practical medical journal "Pharmacogenetics and pharmacogenomics." Currently, the main focus of research activities is the research in the field of metabolic and molecular bases of inherited diseases, as well as the molecular basis of susceptibility to multifactorial diseases and pharmacogenetics.

Sergei Kutsev

Сергей Куцев

Director of Medical Genetic Research Center of the Federal Agency of Scientific Organizations of the Russian Federation, Chief Freelance geneticist of the Ministry of Health of the Russian Federation, Moscow, Russia

Currently S.I.Kutsev is studying morphological and genetic mechanisms of resistance to targeted therapy of hematological diseases as well as he does research on biodistribution and toxicity of nanomaterials.

Sibgatullina Irina F

Сибгатуллина Ирина Фагимовна

doctor of psychology, professor, director of the Institute promoting intellectual development, Austria, professor at the Institute for Educational Development of the Republic of Tatarstan, Russia

Author of dyssynchronic conception of mental development; cross-border investigations of intelligence, intellectual integration technologies; author of the resonant co-creation method MRC: Resonante Cokreation; specialist in the field of practical psychology and museum pedagogy. Author 126 scientific papers, including 2 monographs (2002, 2009) and 3 collective monographs (2008, 2011, 2015) in Russian and German; member of international scientific forums in Russia, Austria, Germany, Slovakia, the USA, Italy, Hungary; member of the international expert group of effectiveness of activities at universities (2013), member of the Federal target program development of education (2012-2014); academic supervisor of 10 theses on developmental psychology, educational and clinical psychology.

Thomas Liehr

Томас Лир

PD Dr. rer. nat. / med. habil., Dr. h.c.

Molekulare Zytogenetik Invited Professor of the Yerevan State University, ArmeniaDipl. Biol. Univ. EurProBiol "Specialist in Human Genetics" (GfH) European registered Clinical Laboratory Geneticist (ErC

Gerard Nguyen

Gerard Nguyen

Gerard Nguyen is a father of a 24 yo daughter with Rett Syndrome, a genetic neurodevelopmental disorder. He has been involved for more than 20 years in patient organisations (President of Rett Syndrome Europe a federation of 32 national organisations in Europe, Volunteer at Eurordis, member of PDCO and many mandates at a national level as expert member in the Haute Autorité de Santé (HAS). He has been MD working in Internal Medicine at Hôpital Avicenne, CHU Bobigny, APHP with a special interest in clinical research on patient compliance, fragile patients and e health. He has been member and coordinator of E Ten, AAL European funded projects (ICARE, HOPES-Project). He was working in Clinical Research and drug development for the top 10 Pharmas as Project leader and Medical Director. He is a Charter Expert at EC for Horizon 2020 Health programme. Bridging the professional expertises to the field of patient organisation, he advocates for the patient empowerment by implementing the evidence base medicine, the patient centered and the family ecosystem approaches in research. He is administrator of a french NGO (Quelque Chose en Plus in partnership with ADAPEI 92) for the development of structures and good practices in Autism and Disability. Declaration of interest None

Viktoria Y. Voinova

Виктория Войнова

MD, PhD, Dr.Sc.

PERSONAL DATA Date of birth: April, 20, 1964. Place of birth: Bolhov, Orlovsky region, Russia. PRESENT POSITION Lead Researcher, Department of Clinical Genetics, Moscow Research and Clinical Institute for Pediatrics at the Pirogov Russian National Research Medical University. 2, Taldomskaya str. 125412, Moscow Russia EDUCATIONAL BACKGROUND 1981 - 1987 - The second Moscow Medical Institute named after N.I. Pirogov (Diploma ЛВ №293434) 1987 - 1990 – Postgraduate course for Neurology, Moscow Region Research Clinical Institute, named after M.F.Vladimirsky. 1991- Postgraduate course for Clinical Genetics, Russian Medical Academy of Postgraduate education. 1994 - Ph. Degree for Pediatrics. Thesis: The Role of Cytogenetical and Cytological Abnormalities in Clinical Polymorphism of Rett Syndrome. 2011 – Dr. Sc. Degree for Pediatrics and Genetics. Thesis: Clinical, genetic and epigenetic characteristics of X-linked mental retardation in children/ EMPLOYMENT 2007- present time - Lead Researcher, Moscow Research Institute of Pediatrics and Children Surgery. 1996 – 2007- Senior Researcher, Moscow Research Institute of Pediatrics and Children Surgery. 1991 – 1996 - Junior Researcher, Moscow Research Institute of Pediatrics and Children Surgery. POSTGRADUATE MEDICAL TRAINING 1994 - World Rett Syndrome Congress, Gothenburg, Sweden 2001 – Training in the Center of Genetics, University of Florence, Italia 2003 – European Cytogenetic Conference, Bologna, Italia 2004 – FENS forum, Lisbon, Portugal 2007- European Human Genetics Conference, Nice, France 2008 - European Human Genetics Conference, Barcelona, Spain 2013 - 3rd European Rett Syndrome Conference, Maastricht, The Netherlands. GCP TRAINING Short GCP trainings were received several times during Investigators meetings. SOCIETY MEMBERSHIP: Russian Society of Medical Genetics EXPERIENCE IN CLINICAL TRIALS: 2010-2013 - ALID02307 (Co-investigator) 2015 – AGLU07710 (PAPAYA) (Co-investigator) PUBLICATIONS Overall number of publications - above 250

Huda Zoghbi

speaker

USA

Professor at the Baylor College of Medicine, Director of the Jan and Dan Duncan Neurology Research Institute at Children's Hospital of Texas, USA

Jane Lane

speaker

USA

Certified nurse at the Rett syndrome clinic at the University of Alabama at Birmingham, family support program manager at the International Rett syndrome organization, USA

Maj Hulten

speaker

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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