Page 1
National Association “GENETIKA” (Russia)
www.rarediseases.ru
Bulgarian Association for Promotion of Education
and Science (Bulgaria)
www.raredis.org
National Centre for Rare Diseases (Italy)
www.iss.it/cnmr
SPONSORS
ORGANIZERS
Page 2
Date Morning session
(10-12 a.m.) Afternoon session
(17-19 p.m.)
11.09.2011
Sunday Arrival and accommodation
Svetlana
Karimova
Rumen Stefanov
Domenica
Taruscio
Welcome messages and introduction
of the participants (9.30-10 a.m.)
12.09.2011
Monday
Svetlana
Karimova Rare diseases in Russia –
the beginning
Svetlana
Karimova &
Vladimir
Tomov
Identifying important rare diseases stakeholders. Role of patient associations
13.09.2011
Tuesday Rumen
Stefanov
Rare diseases in Eastern Europe – from terra incognita
to public health priority
Domenica
Taruscio
EUROPLAN Project –
recommendations for setting national plans
for rare diseases
14.09.2011
Wednesday Manuel
Posada
Rare diseases and orphan drugs in the
Spanish healthcare system
Manuel
Posada &
Domenica
Taruscio
Epidemiological registries for rare diseases. EPIRARE Project
15.09.2011
Thursday Domenica
Taruscio
Rare diseases and orphan drugs in the
Italian healthcare system
Domenica
Taruscio
EUROPLAN Project – indicators for monitoring
the progress of rare diseases activities
16.09.2011
Friday Radostina
Simeonova
Expert centres and
integrative approach to rare diseases
Rumen
Stefanov
Steps towards starting a national plan
for rare diseases
17.09.2011
Saturday
Stamen Popov
& Marian
Angelov
Orphan drugs – bringing innovation to solve
rare diseases problems
Georgi
Stefanov
Key stakeholders
management for improving
patient access to therapy
18.09.2011
Sunday Closure and take home notes
PROGRAMME
Page 3
(in alphabetical order)
Dr. Domenica Taruscio is Director of the National Center for Rare Diseases at
the Italian National Health Institute (ISS). She has a professional qualification
as MD pathologist and has specialized in bioethics and genetics. Scientific
Coordinator of the EUROPLAN and EPIRARE projects, funded by EU DG SANCO
and of a number of national and international projects on rare diseases.
President-Elect of ICORD (International Conferences for Rare Diseases and
Orphan Drugs) Society. Dr. Taruscio is a member of the Task Force on Rare
Diseases (DG SANCO), the European Molecular Genetics Quality Network management board
and the advisory board of Eurogentest (NoE). Dr. Taruscio presented the following topics:
• EUROPLAN Project – recommendations for setting national plans for rare diseases
Time: Afternoon session on Tuesday (13 September)
• EPIRARE Project
Time: Afternoon session on Wednesday (14 September)
• Rare diseases and orphan drugs in the Italian healthcare system
Time: Morning session on Thursday (15 September)
• EUROPLAN Project – indicators for monitoring the progress of rare diseases activities
Time: Afternoon session on Thursday (15 September)
Dr. Georgi Stefanov is a medical professional with more than 16 years of
experience in pharmaceutical marketing in leading pharmaceutical companies
like Sanofi, currently working for Abbott Laboratories as a Commercial Manager
for Central Eastern Europe. His experience includes liaison through patient
associations, multiple stakeholders, coordinating implementation of
international registries, cross-regional activities: advisory boards, market
researches; coaching & developing local teams. Active participation in social and
charity projects of Rotary club. Dr. Stefanov has a medical specialty in general surgery, PhD
degree in public health and MBA degree from the City University of Seattle (USA). Dr. Stefanov presented the following topics:
• Key stakeholders management for improving patient access to therapy
Time: Afternoon session on Saturday (17 September)
SCHOOL FACULTY
Page 4
(in alphabetical order, cont'd)
Dr. Manuel Posada, MD, PhD. Specialist in Preventive Medicine-Public Health
and in Internal Medicine. Expert in Statistical Medicine and Epidemiology. Dr.
Posada is currently Director of the Institute of Rare Diseases Research at the
Institute of Health Carlos III and Director of the WHO Collaborating Center for
the Epidemiology of Environmental-related Diseases. Leader of the several
projects including ASD and rare diseases epidemiology. Coordinator of the
Spanish Network of Research Epidemiology in Rare Diseases (REpIER).
Responsible for a research group at the CIBERER (the Spanish Biomedical Centre in Rare
Diseases Research). Author of the EUROPLAN indicators, E-RARE strategy paper for rare
diseases research and the EAIS prevalence protocol.
Dr. Posada presented the following topics:
• Rare diseases and orphan drugs in the Spanish healthcare system
Time: Morning session on Wednesday (14 September)
• Epidemiological registries for rare diseases
Time: Afternoon session on Wednesday (14 September)
Dr. Marian Angelov is a medical professional with more than 10 years of
experience in pharmaceutical marketing, currently holding the position of
Medical Science Liaison at Novartis Pharma Bulgaria. Dr. Angelov has a MD
degree from the Medical University of Sofia.
Dr. Angelov presented the following topics:
• Development of Orphan Drugs. Targeting New Pathways
Time: Morning session on Saturday (17 September)
Dr. Radostina Simeonova is director of the Medical centre “RareDis” – a project
of BAPES, which is dedicated to people with rare diseases and their families,
offering physical rehabilitation, psychological support social reintegration
training. Dr. Simeonova has a PhD degree and speciality in Physical and
Rehabilitation Medicine, had a practice in general medicine for 5 years and
experience with homeopathy for more then 10 years. Member of the Bulgarian
Association of Physical and Rehabilitation medicine, the Bulgarian Homeopathy
Association and the Association of General Practitioners. Dr. Simeonova is an active participant
and supporter of several projects, intended for integration of disabled people. Dr. Simeonova presented the following topics:
• Expert centres and integrative approach to rare diseases
Time: Morning session on Friday (16 September)
SCHOOL FACULTY
Page 5
(in alphabetical order, cont'd)
Dr. Rumen Stefanov (chairman of BAPES) is an associate professor in public
health and Dean of the Faculty of public health at the Medical University of
Plovdiv (Bulgaria). He specialized in public health, epidemiology and clinical
trials on small populations with more than 10 years experience in rare
diseases, being also a Marie Curie fellow and a visiting scientist at the Mario
Negri Institute (Italy). Participant in several EU funded projects (Orphanet,
EUROPLAN, BURQOL-RD, EPIRARE etc.). Dr Stefanov is an active member of
the Task Force on Rare Diseases (2004-2009), reviewer (DG ISM, Italian MoH, etc.), board
member of the Central & Eastern European Genetic Network. Dr. Rumen Stefanov was a
member of the drafting group of the EU Communication for rare diseases (COM/2008/679) and
chair of the drafting group of the National Program on Rare Disease at the Ministry of Health of
Bulgaria. Dr. Stefanov presented the following topics:
• Rare diseases in Eastern Europe – from terra incognita to public health priority
Time: Morning session on Tuesday (13 September)
• Steps towards starting a national plan for rare diseases
Time: Afternoon session on Friday (16 September)
Dr. Stamen Popov is a medical professional with more that 16 years of
experience in pharmaceutical marketing and management, currently being BU
Head at Novartis Oncology Bulgaria. Professional interests in oncology, being
active member of Fight Against Cancer Foundation, Bulgarian Oncology
Association and Oncology Subgroup at the Association of Research-based
Pharmaceutical Manufacturers in Bulgaria (ARPharM). Editor-in-Chief of
Scientific Medical Magazine “Interna” (1994-1996). Dr. Popov has a MD degree
from the Medical University of Sofia. Dr. Popov presented the following topics:
• Fighting Rare Diseases – The Case of Rare Cancers. An Industry Perspective
Time: Morning session on Saturday (17 September)
SCHOOL FACULTY
Page 6
(in alphabetical order)
Ms. Svetlana Karimova is President of Russia’s biggest and most important
rare diseases patient association – National Association GENETIKA. Ms.
Karimova has a long-time experience in rare diseases awareness-raising and
patient advocacy in Russia. Director and founder of the Information resources
centre for rare diseases in Saint Petersburg, Russia. Ms. Karimova is also Head
of the Clinical registries group within the Public Council of Patient
Organizations at the Russian Federal Ministry of Health and Social
Development. Member of EURORDIS Council of national alliances. Ms. Karimova presented the following topics:
• Rare diseases in Russia – the beginning
Time: Morning session on Monday (12 September)
• Identifying important rare diseases stakeholders. Role of patient associations
Time: Afternoon session on Monday (12 September)
Mr. Vladimir Tomov is President and one of the founders of the Bulgarian
National alliance of people with rare diseases. Founder and chairperson of the
Bulgarian national Gaucher disease patient association, one of the very first
rare diseases patient organization in Eastern Europe. Head of the
Confederation for health protection (Bulgaria) since 2009. Member of the
National advisory board for rare diseases at the Bulgarian Ministry of Health.
Member of EURORDIS Council of national alliances. Mr. Tomov presented the following topics:
• Role of patient associations
Time: Afternoon session on Monday (12 September)
SCHOOL FACULTY
Page 7
(in alphabetical order)
1. Alexander Lebedev, Civic Chamber of Russian Federation / Russian State Medical
University
2. Alexandra Komissarenko, Murmansk Oblast Duma
3. Anastasia Tatarnikova, PNH Patient Association
4. Arkadiy Murylev, Pskov Oblast Duma
5. Dmitriy Lebedev, Municipal Council of Chernaya Rechka Municipality, St. Petersburg
6. Ekaterina Lebedeva, Council of
Central District, St. Petersburg
7. Elena Grigorenko, National
Asociation “GENETIKA”
8. Gennadiy Makhotin, Civic
Chamber of Russian
Federation
SCHOOL PARTICIPANTS
Page 8
(in alphabetical order, cont'd)
9. Irina Tarasova, Federal
Research Centre of Pediatric
Hematology, Oncology and
Immunology, Ministry of
Health and Social
Development
10. Ivan Strelkov, Bayer
Healthcare
11. Oleg Milakov, State Duma of
Russian Federation
12. Oxana Khrolenok, National
Aociation “GENETIKA”
13. Sergey Apatenko, Civic Council, Ministry of Health
14. Svetlana Karimova, National Association “GENETIKA”
15. Svetlana Konstantinova, Council of Federation
16. Svetlana Ushenina, Bristol Myers-Squibb
17. Tatyana Kadyra, Ministry of Health, Republic of Komi
18. Tatyana Kashcheeva, Research Institute of Obstetrics and Gynecology “D. O. Ott”,
Russian Academy of Medical Sciences
19. Veniamin Chernov,
Federal Research
Centre of Pediatric
Hematology, Oncology
and Immunology,
Ministry of Health and
Social Development
SCHOOL PARTICIPANTS
Page 9
The first ever in
Eastern Europe Rare
Diseases Summer School was
held from 11 to 18
September in Sunny Beach
(Bulgaria). 18 Russian policy
and decision makers had the
possibility to get closer to
rare diseases topics and to
understand the significant
added value that rare
diseases actions and
measures possess. The participants came from a wide range of public fields – federal legislative
bodies and health authorities, their equivalents from the regions, leading medical institutions,
academics, patient organizations and pharmaceutical industry. This structure of participants
reflects the basic idea that no stakeholders should be excluded from the rare diseases debate.
Sustainable progress on rare diseases field is possible only when all interests and viewpoints are
taken into account.
In the opening day
Svetlana Karimova (National
Association “GENETIKA”,
Russia) and Vladimir Tomov
(National Alliance of People
with Rare Diseases, Bulgaria)
introduced the participants
with the patient perspective
and the role of patient
advocacy movement. During
the second day Rumen
Stefanov (Bulgarian Association for Promotion of Education and Science, Bulgaria) analyzed the
processes in Eastern Europe on rare diseases and gave concrete examples of best practices in
Bulgaria and the Czech Republic, countries, which already have running national plans for rare
diseases. Domenica Taruscio (National Centre for Rare Diseases, Italy) presented the
EUROPLAN project and its contribution for the establishment of a common European policy on
rare diseases. On Wednesday
Manuel Posada (Carlos III Health
Institute, Spain) explained how the
Spanish health system is dealing
with these problems and pointed
out the achievements of Spain. Prof.
Posada also presented the
indicators, developed by
EUROPLAN, aimed at assessing the
proper implementation of various
initiatives on rare diseases.
SCHOOL SUMMARY
Page 10
During the fourth day Dr.
Taruscio similarly spoke of the
Italian position on healthcare
problems of rare diseases and
presented the new European
project in this area – EPIRARE. On
Friday Radostina Simeonova
(Medical Center “RareDis”) made a
detailed picture of the centers of
expertise on rare diseases and the
criteria for their designation and
work. Prof. Stefanov organized
practical training on how to develop
a national plan for rare diseases.
The final day was reserved for
representatives of the pharmaceutical industry, who presented their point of view and
explained the importance of orphan drugs for modern medicine. Each session consisted of
practical training and small group discussion in order to achieve maximum involvement and
feedback.
The survey on participants’ satisfaction has confirmed the unanimous success of this
project. The participants have appreciated the overall organization of the school and the quality
of its educational and training frame. The active discussions during the sessions, as well as the
many presented ideas for activities in the field of rare diseases in Russia have proved once
more the organizers’ ability to motivate different stakeholders to involve themselves in rare
diseases cause. In the end all the participants expressed their support and willingness to
participate in an initiative group, which to develop and propose for approval and
implementation a Russian national plan for rare diseases.
The extremely positive feedback gives us reason to believe that the Summer School for
Rare Diseases 2011 has greatly contributed to the rare diseases field and this edition will be the
first of a series of upcoming familiar events in Eastern Europe.
SCHOOL SUMMARY
Page 11
RREEAASSOONN TTOO PPAARRTTIICCIIPPAATTEE GGeettttiinngg iinn ttoouucchh wwiitthh rreecceenntt nneewwss aanndd uuppddaatteess 1188..33%%
RRaaiissiinngg pprrooffeessssiioonnaall qquuaalliiffiiccaattiioonn 1122..22%%
CCoommmmuunniiccaattiinngg wwiitthh ootthheerr ssttaakkeehhoollddeerrss 1177..11%%
EEssttaabblliisshhiinngg ccoonnttaaccttss aanndd ccoollllaabboorraattiioonn 1177..11%%
IInnttrroodduucciinngg wwiitthh EEuurrooppeeaann aanndd iinntteerrnnaattiioonnaall aaccttiivviittiieess 1188..33%%
IInnttrroodduucciinngg wwiitthh EEuurrooppeeaann rreeccoommmmeennddaattiioonnss ffoorr aaccttiioonnss 1144..66%%
PPaarrttiicciippaattiioonn aatt ssiimmiillaarr ppaasstt eevveennttss 22..44%%
PPRREELLIIMMIINNAARRYY IINNFFOORRMMAATTIIOONN GGEENNEERRAALL OORRGGAANNIIZZAATTIIOONN EExxcceelllleenntt 3300..00%% EExxcceelllleenntt 5500..00%%
VVeerryy ggoooodd 4455..00%% VVeerryy ggoooodd 4455..00%%
SSaattiissffaaccttoorryy 2255..00%% SSaattiissffaaccttoorryy 55..00%%
FFaaiirr 00..00%% FFaaiirr 00..00%%
SATISFACTION SURVEY RESULTS
Page 12
LLEECCTTUURREERRSS SSEELLEECCTTIIOONN TTRRAAIINNIINNGG SSEESSSSIIOONNSS EExxcceelllleenntt 7700..00%% EExxcceelllleenntt 4400..00%%
VVeerryy ggoooodd 3300..00%% VVeerryy ggoooodd 5500..00%%
SSaattiissffaaccttoorryy 00..00%% SSaattiissffaaccttoorryy 1100..00%%
FFaaiirr 00..00%% FFaaiirr 00..00%%
TTRRAAIINNIINNGG PPRREESSEENNTTAATTIIOONNSS SSCCHHOOOOLL FFOOLLDDEERR MMAATTEERRIIAALLSS EExxcceelllleenntt 4455..00%% EExxcceelllleenntt 3300..00%%
VVeerryy ggoooodd 4400..00%% VVeerryy ggoooodd 4455..00%%
SSaattiissffaaccttoorryy 1155..00%% SSaattiissffaaccttoorryy 2255..00%%
FFaaiirr 00..00%% FFaaiirr 00..00%%
PPAARRTTIICCIIPPAATTIIOONN AATT SSIIMMIILLAARR FFUUTTUURREE EEVVEENNTTSS YYeess 110000..00%%
NNoo 00..00%%
SATISFACTION SURVEY RESULTS
Page 13
Prof. Veniamin M. Chernov, MD, PhD, Deputy director of the Federal Research Centre of
Pediatric Hematology, Oncology and Immunology (Ministry of Health and Social Development),
Moscow, Russia
Assoc. Prof. Irina S. Tarasova, MD, PhD, Scientific secretary of the Federal Research Centre of
Pediatric Hematology, Oncology and Immunology (Ministry of Health and Social Development),
Moscow, Russia
Ms. Tatyana K. Kashcheeva, PhD, DSci, Leading expert at the Laboratory for Prenatal Diagnosis
of Inherited Diseases, Institute of Obstetrics and Gynecology “D. O. Ott” (Russian Academy of
Medical Sciences), St. Petersburg, Russia
How and when did you first "meet"
with the rare diseases topics?
Prof. Veniamin Chernov (VC): The
first rare disease patient in my practice
was a Gaucher disease one. Further, I
have "met" with many more different
rare disorders, as I am
a pediatric hematologist. The term "rare
diseases" has recently started being used
in our country.
Prof. Irina Tarasova (IT): I have been
professionally focusing on the pediatric
hematology and oncology for many years
and a lot of these conditions are defined
as rare. I first heard about the rare
diseases as a global issue last year during the Fifth Eastern European Conference for Rare
Diseases and Orphan Drugs and First All-Russian Rare Diseases Conference in St. Petersburg,
in which I was invited as a moderator.
Tatyana Kashcheeva (TK): I have been working on the hereditary diseases since 1983.
The genetic laboratory where I work is specialized in diagnosis of some of the “most
frequent” rare diseases, such as cystic fibrosis, PKU, hemophilia, fragile X chromosome, etc.
There are many problems in rare diseases field. In your opinion, which one deserves to
be a particular focus of interest by the medical professionals?
VC: Introducing rare diseases topics to medical professionals, particularly rare
diseases diagnosis and treatment guidelines.
IT: Firstly, we need a global rare diseases registry, as well as registries for the
different nosologies. Then, introducing of advanced rare diseases diagnosis and treatment
methods and creating of centres of expertise. Finally, a national plan for rare diseases.
TK: That's why we firstly need to launch a rare diseases task force. After that, we
should start working on rare diseases list and registries.
TESTIMONIALS
Page 14
Does such kind of events as the Rare Diseases Summer School 2011 help dealing with
these problems? How?
VC: Sure. But we also need specialized rare diseases programmes for medical
students and medical professionals.
IT: Yes. Sharing and learning from the others' experience is always helpful. We could
use it as a base for further rare diseases activities in Russia.
TK: Of course. Such initiatives always help to exchange experience and to
communicate with colleagues.
What did particularly impress you in the Rare Diseases Summer School 2011?
VC: The achievements of many European countries, especially Italy, Spain and
Bulgaria, in rare diseases field.
IT: The already established global structures for diagnosis, registry, treatment and
follow-up of rare diseases in Europe.
TK: For me it was very interesting to get known with epidemiological registries
activities, which have been recently started in Europe. I was really impressed by the huge
preliminary work that needs to be done when considering running such a database.
Many different approaches to rare diseases were presented during the School sessions.
In your view, which of them could be transferred, adapted and implemented in Russia?
VC: The reference centres, rare diseases registries. Russia needs to take part in the
rare diseases international organizations and networks.
IT: I think the rare diseases registries should be our first priority.
TK: It is difficult to say it right now. We should take the best practices and try to
adapt and implement them in our already existing healthcare structures.
TESTIMONIALS
Page 15
The School theme was
"Rare Diseases as a health
policy priority". Could a
national plan for rare
diseases help put the rare
diseases among Russia's
public health main points?
VC: Yes, no doubt
at all!
IT: Of course.
TK: I think the rare
diseases national plan
initiation should be just like
the other national healthcare
programmes, which we have
in Russia. In my opinion, this
process should be managed
by the medical specialists' community.
Finally, what would you like to suggest any future schools' organization
improvements?
VC: As a medical professional, I am pretty much interested in the advanced
approaches for rare diseases treatment, as well as the rare diseases epidemiology.
IT: Participation of leading clinical experts as lecturers, as well as more work groups
on specific fields of interest.
TK: I would like to ask for more preliminary information on the presentations and
trainings, as well as more detailed information, concerning rare diseases field in Russia.
The following series of workshops "Rare diseases as one of the priorities and directions of state
policy" for Russian participants are projected for 2012:
• April 2012 (Greece) - Workshop for healthcare authorities
• July 2012 (Italy) - Workshop for ptient organization for rare diseases
• September 2012 (Bulgaria) - Workshop for medical professionals and researchers
• November 2012 (Cyprus) - General workshop for all interested parties
SUMMER SCHOOL – 2012
TESTIMONIALS