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15th National Conference on Rare Diseases and Orphan Drugs September 13-14, 2024 Hotel “Imperial”, Plovdiv

by informer

15th National Conference on Rare Diseases and Orphan Drugs
September 13-14, 2024
Hotel “Imperial”, Plovdiv

The Fifteenth National Conference on Rare Diseases and Orphan Drugs, under the patronage of the Health Committee of the 50th National Assembly, the Ministry of Health, and the National Health Insurance Fund, will take place in Plovdiv, one of the oldest cities not only in Bulgaria but also in Europe. Over 230 participants, including medical professionals, representatives of patient organizations, health authorities, and industry experts, will gather to share experiences and learn about the latest developments in the diagnosis, treatment, and monitoring of rare diseases.

The Institute for Rare Diseases, in partnership with the Association of Medical Students – Plovdiv, and the National Alliance of People with Rare Diseases, will host the event. The conference will be held on September 13-14, 2024, at Hotel Imperial in Plovdiv. The opening ceremony will take place on Friday, September 13, at 12:00 PM in the Ballroom (9th floor of Hotel Imperial Plovdiv).

In the past decade, rare diseases have become a priority area for public health in the European Union. Due to their rarity, they are often difficult to diagnose and treat, which highlights the importance of multidisciplinary care and collaboration between specialists.

The main topics of this year’s event will include:

  • 6 scientific sessions in neurology, pediatrics, dermatology, endocrinology, neonatal screening, and the diagnosis of rare diseases in nephrology.
  • 8 sponsored sessions.
  • Our annual training “Academy for Rare Diseases.”
  • A session of scientific reports featuring 63 active scientific presentations.

The Institute for Rare Diseases is the first interdisciplinary and multifunctional organization for rare diseases in Eastern Europe. With its professionally structured four departments: the Information Center for Rare Diseases and Orphan Drugs, the Medical Center “RareDis”, the Center for Health Technology Assessment and Analysis, and RareDis Solutions, the Institute offers holistic solutions covering all aspects of rare diseases and orphan drugs. Every day, the team strives to achieve its main goal – to accelerate access to innovative therapeutic solutions and improve care and quality of life for patients with rare diseases.

This year, we are excited to celebrate the 20th anniversary of the Information Center for Rare Diseases and Orphan Drugs (ICRD). Established in 2004 as the first of its kind in Eastern Europe, the center has provided valuable information to patients, organizations, and medical professionals with an interest in rare diseases and orphan drugs. Over the years, ICRD has developed with the support of volunteer consultants—leading medical specialists from university clinics in Bulgaria.

On September 13, 2024, at 10:00 AM in the “Panorama” Hall of Hotel Imperial, Plovdiv, a special edition entitled “15th National Conference on Rare Diseases and Orphan Drugs – September 13-14, 2024, Plovdiv” will be released—a postage stamp in a block and a special postal cancellation. The stamp will be validated by Vachka Ivanova, Director of the Southern Central Region of “Bulgarian Posts.”

Details of the edition:

  • Type: a postage stamp in a block
  • Stamp size: 25×50 mm
  • Perforation: frame-like
  • Printing technique: digital print
  • Paper: white
  • Nominal value: 3.30 BGN
  • Print run: 5,100 copies
  • Artist: Petar Chuchuligov

We look forward to welcoming you to the opening on Friday, September 13, at 12:00 PM, and the release of the special edition on September 13, 2024, at 10:00 AM in the Panorama Hall (9th floor of Hotel Imperial Plovdiv).

 

XV National Conference on Rare Diseases and Orphan Drugs

by informer

For the 15th consecutive year, the National Conference on Rare Diseases and Orphan Drugs is set to take place, organized by the Institute for Rare Diseases.

The conference is the most significant forum in the field of rare diseases in Bulgaria, having been held since 2010. The event traditionally brings together all stakeholders, including medical specialists, patients, medical students, health authorities, and industry representatives, to present and discuss advancements in the diagnosis, treatment, and management of rare diseases, as well as access to innovations.

This year, the event will mark the 20th anniversary of the establishment of the Institute for Rare Diseases. The institute’s team has successfully contributed to the development of the national policy and strategy for rare diseases, providing information and consultations for patients and medical professionals. Additionally, they have successfully implemented various training programs, projects, and seminars.

Location: Hotel Imperial Plovdiv, Plovdiv

Early registration deadline: May 1, 2024

Late registration deadline: September 1, 2024

Abstract submission deadline: August 1, 2024

For contact with the organizing committee: congress@raredis.org

Additional information can be found at the XV National Conference on Rare Diseases and Orphan Drugs – Virtual Congress Center (raredis.org).

 

Are the European reference networks for rare diseases ready to embrace machine learning?

by informer

Georgi Iskrov, Ralitsa Raycheva, Kostadin Kostadinov, Georgi Stefanov, Elena Mitova, Rumen Stefanov, and Stefan Stefanov, as part of the Institute for Rare Diseases and the Department of Social Medicine and Public Health at the Medical University – Plovdiv, actively participate in the Screen4Care project, which started in 2021. Screen4Care offers an innovative research approach to accelerate rare disease diagnosis, which is based on two central pillars: genetic newborn screening and digital technologies.

Current research study “Are European Reference Networks for Rare Diseases Ready to Embrace Machine Learning?” has been executed by the Institute for Rare Diseases team together with Sandra Gillner and Carl Rudolf Blankart, KPM Center for Public Management, University of Bern, Swiss Institute for Translational and Entrepreneurial Medicine (Sitem-Insel), Switzerland; Edith Sky Gross and Gulcin Gumus, EURORDIS and is published in the prestigious international journal “Orphanet Journal of Rare Diseases” (Impact factor: 3.7)

The study involved 423 medical and other specialists associated with one of the 24 European Reference Networks. Participants express limited knowledge and experience with machine learning technologies. Surveyed individuals emphasize improved diagnostic accuracy as the most important potential benefit. Respondents support machine learning as recommended part of the rare diseases diagnostic process. Despite the presumed lack of experience, there is significant enthusiasm for the implementation of machine learning technologies, especially diagnostic tools targeting rare diseases. The study emphasizes the importance of early collaboration between healthcare professionals, software developers, industry, health authorities, and patient associations. This collaborative approach is considered crucial for building trust, improving efficiency, and increasing the acceptance of machine learning. Read the full article here.

Screen4Care project has received funding from the Innovative Medicines Initiative 2 Joint Undertaking (JU) under Grant Agreement No. 101034427. The JU receives support from the European Union’s Horizon 2020 research and innovation programme and EFPIA.

Screen4Care – Shortening the path to RD diagnosis by using newborn genetic screening and digital technologies presented on 30.09.2023

by informer

Assoc. Prof. Georgi Iskrov, Assoc. Prof. Ralitsa Raicheva and Prof. Richard Rötger, as part of the Screen4Care project, which started in 2021, presented the first results of their studies during the XIV National Conference on Rare Diseases and Orphan Dugs – 30.09.2023. The main goal of Screen4Care project is to accelerate accurate diagnosis of people with rare diseases by implementing genetic screening in newborns and developing innovative digital solutions.

Prof. Richard Rötger is head of the Department of Mathematics and Computer Science at the University of Southern Denmark. Prof. Rötger mainly focuses on the development of efficient algorithms for the analysis of biological networks and large-scale biomedical datasets. His work focuses on unsupervised machine learning and integration of heterogeneous data sets. Prof. Rötger presented the challenges and opportunities for applying machine learning in clinical practice.

Georgi Iskrov is associate professor of healthcare economics at Medical University – Plovdiv. Since 2008, he has been part of the team of the Institute for Rare Diseases, where he participates in a number of national and European projects. Prof. Iskrov presented the results of a survey conducted among medical specialists working in European reference networks regarding their readiness to integrate machine-learned artificial intelligence in their practice.

Assoc. Prof. Raycheva has Master’s degree in Macroeconomics, PhD, scientific specialty “Healthcare Economics”. Associate Professor Raycheva presented the results of a study published in the international journal: Frontiers in Public Health (Impact factor: 5.2; Cite score: 3.8) Public Health Policy section. It focuses on the challenges when mapping European rare disease databases for screening technologies based on machine learning (ML) and artificial intelligence. You can read the published article here.

The Screen4Care EU-IMI project has received funding from the Innovative Medicines Initiative 2 Joint Undertaking (JU) under grant agreement No 101034427. The JU receives support from the European Union’s Horizon 2020 research and innovation programme and EFPIA.

Prof. Elisaveta Naumova, lecturer at the XIV National Conference on Rare Diseases and Orphan Drugs

by informer

The XIV National Conference on Rare Diseases and Orphan Drugs is aimed at specialists, resident physician and doctoral students in genetics, pediatrics, obstetrics and gynecology, internal medicine and many other specialists who are willing to share their experience or gain knowledge in the field of rare diseases and orphan drugs.

Chairman of the scientific committee – Prof. Dr. Rumen Stefanov, who is an internationally recognized expert on the problems of rare diseases and the author of a number of pilot projects for Eastern Europe in this field. He is a member of the board of member countries for monitoring and evaluation of European reference networks on rare diseases and of the Board of the International Society for Rare Diseases (ICORD).

30 established specialists will take part in the event, including two foreign lecturers and a total of 310 registered participants, including 70 medical specialists, 40 patients, 200 students, specialists and doctoral students. Over 60 abstracts were submitted and approved for participation in this year’s conference.

Do not miss the opportunity to watch our video and familiarize yourself with the scientific program.

One day left to register!

Today you have the opportunity to meet one of our lecturers – Prof. Elisaveta Naumova and a short interview with her:

1. Could you share the approximate number of people in Bulgaria affected by the rare disease that is the focus of your lecture? Is there a registry?

There are about 200 patients with PI in the national registry for rare diseases – primary immunodeficiency.

2. What are the specifics in the follow-up of patients with this rare disease?

Patients with PI are prone to infections, autoimmune and oncological diseases. This requires strict control of their condition every 6 months.

3. In your opinion, how can care for this rare disease be improved in our country?

For early diagnosis (before complications occur), timely and adequate therapy is necessary:

– Neonatal screening for T and B cell deficiencies.

– Obligatory preventive examination of immune competence at regular intervals.

– Access to biologic drugs to treat complications.

 

 

 

XIV National Conference on Rare Diseases and Orphan Drugs

by informer

For the 14th year in a row, the National Conference on Rare Diseases and Orphan Drugs, organized by the Institute for Rare Diseases, is about to be held. The event is an annual forum that brings together all stakeholders – medical professionals, patients, medical students, industry representatives and health authorities – to present and discuss the latest developments in the diagnosis, treatment and follow-up of rare diseases, the development of European reference networks and access to innovation.

Place: Hotel “Imperial” – Plovdiv

Early bird registration deadline: August 1, 2023

Late registration deadline: September 15, 2023

Deadline for submission of abstracts: September 1, 2023

To contact the organizing committee: congress@raredis.org

Additional information can be found at XIV NATIONAL CONFERENCE ON RARE DISEASES AND ORPHAN DRUGS – Virtual Congress Center (raredis.org)

 

Veselina Kmetska – winner of the audience in the photo contest “Rare Nuances in The Colours of Life”

by informer

Veselina Kmetska, medical student, 3rd year, MF under Prof. Dr. Asen Zlatarov” Burgas

1. Hello, you have been chosen as the audience winner in our “Rare Nuances in The Colours of Life” contest, how did you find out about it and what motivated you to participate?

I learned about the competition “Rare Nuances in The Colours of Life” from the Facebook page of ASM-Plovdiv. As a member of ASMB-Burgas, I follow the association’s campaigns. I really liked the idea of ​​an exhibition dedicated to people with rare diseases and that motivated me to get involved.

2. Are you serious about photography? How did you decide which photo to feature?

I have been doing photography as an amateur for three years. In this way, I break away from the busy everyday life and enjoy the beautiful things in life. When I saw the theme of the contest, I immediately decided with which photo to participate.

3. What is the symbolism in your picture?

Symbolism of my photography – sometimes nature is very cruel to us humans, but nevertheless it gives us incredible views and colors to remind us that life is actually beautiful. People with rare diseases should know that after the strongest storms, a rainbow appears, after the hardest days – a beautiful sunset and after the darkest nights – a colorful sunrise. I believe that after every bad thing, something good happens, which gives us a sign that we should never lose hope and give up on the beauty of life.

4. What did you learn about rare diseases by participating in the competition?

From participating in the photo contest, I realized how important campaigns like this are. They inform the public about people with rare diseases, which will improve their care and treatment. Together we can improve the quality of life for these people and show them that there is hope for them and that they too deserve to be happy.

 

 

Hris-Maria Slavova – the big winner of the photo contest “Rare Nuances in The Colours of Life”

by informer

Hris-Maria Slavova, medical student, 2nd year, Medical University-Plovdiv

1.Hello, you are the big winner of our contest, how did you find out about it and what motivated you to participate?

Hello! As an active member of the Association of Medical Students – Plovdiv since my first year as a student, I have always been interested in the various initiatives of my colleagues. As soon as I found out about the Photo Contest from the then local head of the Public Health Committee (SCOPH) I was highly motivated to sign up and help. In my opinion, these diseases, although rare, should not be ignored and the opportunity to draw attention to them in such an attractive way made me embrace the idea and roll up my sleeves. The photo is a memory of a magical trip to Vienna with my colleagues and I have kept it close to my heart as something sentimental ever since. Subtly, I also invented a poem that would give my work even more meaning and show that people who embark on this adventure – medicine, do not find in it just dry facts and reference values, but immerse themselves in a world in which they can nurture their creative skills alongside developments in science.

2. Are you serious about photography? How did you decide which photo to feature?

I do photography as an amateur. I chose this photo because the butterfly for me symbolizes everything that is best in life. It begins as a pupa and through its own efforts becomes this lovely winged creature that gives us hope. Beauty heals, makes time stand still and gives us the freedom to think that there is always something in life to make you feel better and find meaning. It reminds that everything will be okay in the end.

3. What is the symbolism in your picture?

I am sure that the butterfly in my photo is a symbol of every single change that we undergo over the years and shows that with the accumulation of experience and knowledge our existence becomes more and more beautiful and meaningful. Rare diseases are the nuances in people’s lives that make it colorful and exciting. Therefore, let’s not forget that the butterfly is also a symbol of love that lives in us and accompanies us on our life’s journey, giving meaning to every single thing we do and encounter. Love is the support that the relatives give to these patients, but also the help of the medical specialists, and in this case also the students, who do their best every da

4. What did you learn about rare diseases by participating in the competition?

For a disease to be rare, it needs to occur in less than 1 in 2,000 individuals. In fact, until ten years ago, the situation in Bulgaria was not particularly encouraging for patients with such a diagnosis. With the establishment of the Institute of Rare Diseases and the National Alliance of People with Rare Diseases, as well as many other organizations, there is a positive trend in public awareness of the issue and in the possibilities of treatment and support for the sick. Celebrating Rare Disease Day is a wonderful initiative that is gradually becoming a tradition with more and more supporters.

 

Teodora Gencheva – ranked second in the photo contest “Rare Nuances in The Colours of Life”

by informer

Teodora Gencheva, medical student, 3rd year, Medical University-Plovdiv

1. Hello, you are ranked second in our competition “Rare Nuances in The Colours of Life”, how did you find out about it and what motivated you to participate?

As soon as I found out about the competition held by the Department of “Social Medicine and Public Health” of the MU – Plovdiv, I knew that I wanted to participate in it. I believe that every medical student, doctor, person working in the health sector has a role to play in the promotion of rare diseases and if everyone contributes in their own way to better public awareness of rare diseases, it would contribute to a better quality of life and better health care and social support for people living with similar diagnoses. This is what prompted me to take part in the contest, as well as my love for photography

2. Are you serious about photography? How did you decide which photo to feature?

Photography has been a hobby of mine for years, purely as an amateur, but I have participated in online photo contests before. It was extremely exciting for me to get involved in an initiative that is connected to two of my great passions – medicine and photography – and I am happy that the contest was organized with such a noble cause. The decision with which photo to participate was not easy, nor was it straightforward. After long photo sessions, many ideas, colors, double exposures, thoughts and discussion, together with Bozhidar Valkov we managed to create the photo, ranked by the jury in second place.

3. What is the symbolism in your picture?

The photo we chose represents not only the uniqueness and colors associated with rare diseases, but also the hands not only as part of the International Rare Disease Day logo, but also as a symbol of the support and love that every person needs and which each of us as a member of society should strive to give not only to our loved ones, but also to the people with rare diseases around us. This is exactly what I see the meaning of holding the International Day of Rare Diseases annually and in particular this year’s photo contest – achieving sufficient publicity regarding rare diseases and reaching the public with a call for support – not only medical and public, but also purely social and human, call for show of hands.

4. What did you learn about rare diseases by participating in the competition?

Participating in the competition made me realize how little I know about the topic of rare diseases, and it also became a reason for me to inform myself, read and familiarize myself not only with the essence of rare diseases, but also with the organizations in Bulgaria that deal with settling the rights of those diagnosed with similar conditions and the situation in our country and around the world, the fate of patients and what we as medical students could contribute to a brighter future for everyone living with a rare disease.

 

 

 

Ralitsa Dimitrova – ranked third in the photo contest “Rare Nuances in The Colours of Life”

by informer

Ralitsa Dimitrova, student of dental medicine, Medical University “Prof. Dr. Paraskev Stoyanov” – city of Varna

1. Hello, you are ranked third in the photo contest “Rare Nuances in The Colours of Life”, how did you learn about it and what motivated you to participate?

I am a fan of the pages of ASM – Plovdiv on both Facebook and Instagram, because I like the publications and information campaigns behind which are many hardworking and awake people. I found out about the contest from a Facebook event and knew immediately that I would participate. I am motivated by the fact that the competition is on an extremely important and serious topic from a medical point of view, and it becomes a field for creativity and imagination to create photographs that have an impact.

2. Are you serious about photography? How did you decide which photo to feature?

I have been doing photography for about 7 years. It has always been my hobby, a passion through which to express myself. Photography is something that I always carry in my heart, and the camera and lenses – always with me. I believe that the strongest shots are not posed, nor thought out in advance, I believe in chance and unpredictability in creativity. Each of my photographs carries an emotional value. For me, photography is an art through which you can speak loudly as long as the viewers can hear. I have tried to create in different directions of photography – art photography will always remain my favorite way to interpret different subjects. My choice of photo and concept was extremely easy – I knew I was going to create something to hide a message in, something that would be open to people and their imagination.

3. What is the symbolism in your picture?

for photo 1 /”Family is everything”/ – I know that there are extremely many families in which there is a person with a rare disease. Opportunities to exchange experiences with other individuals are often lacking. This can lead to isolation and loneliness for patients and families, and can lead to a lack of emotional support, even if medically provided. Through my photo, I want to tell families with a child with a rare disease that they are not alone and to hug each one of them. Few people think about the psychological impact of any disease on the patient and his family. for photo 2 / “Sunny perspectives”/ – I have always found a magic in sunsets that brings me something that nothing else in this world brings. Every day in different bright colors, every day different, but always beautiful. My message is one – to not stop loving and respecting people with rare diseases as we love sunsets – different, colorful, but always perfect as they are. Let’s assume that many people in this world are struggling to be part of society – different as the colors of the sunset, but having equal rights to help and support.

4. What did you learn about rare diseases by participating in the competition?

For me, this is an extremely important topic. I am glad that the competition is aimed at us medical students, because there are probably no people who understand the importance of awareness about rare diseases more than the medical professionals in the field and the students who read about it. Few people know that on average it takes nearly 5 years to diagnose a rare disease. Diagnosis is a real challenge. A specialist may never have encountered such a clinical case and may not be familiar with the rare disease from which the patient is affected. Many rare diseases include common signs, common symptoms that lead to difficulties and incorrect diagnoses. Symptoms can have an irreversible impact. Although they are the subject of a number of scientific studies, there is no cure for many of the rare diseases. These include hemophilia, muscular dystrophy, Bloom’s syndrome, Klinefelter’s syndrome, narcolepsy and many others. The EU considers a disease rare when it affects less than 1 in 2,000 citizens. To date, they affect 350 million worldwide, 75% of whom are children. Over 7,000 diseases have been identified. 2/3 of them are genetic, and the others are the result of infections (bacterial or viral) or autoimmune diseases. A huge percentage of genetic diseases begin in childhood, but it is not excluded that they manifest themselves in adulthood.

I wish success to the future doctors from ASM-Plovdiv, thank you for the wonderful initiative. We are the future and together we can do more. Let’s fight for the awareness of the population about many medical issues!

 

 

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