Kompetenzzentrum Seltene Erkrankungen


Montag, 2. Juli 2018 - Dienstag 3. Juli 2018
The International Congress on Advanced Treatments in Rare Diseases (RARE2018)
London, UK
RARE2018 will address the challenges of Rare Diseases Treatments as well as new therapies on the horizon. This congress is excited to welcome world renowned speakers, all of whom are experts in the field of Rare Diseases and who will present ground-breaking and cutting-edge news on treatments in Rare Diseases.
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Freitag, 6. Juli 2018 - Dienstag, 10. Juli 2018
15th International Congress on Neuromuscular Diseases
Vienna, Austria
The expected aim of the Congress is to update attendees' view on neuromuscular disorders and to show that the networking opportunities can increase their international experience and collaborations. The scientific and program committee have been invited from all continents around the world to enable this wide spectrum.
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Mittwoch, 11. Juli 2018 - Freitag, 13. Juli 2018
6th Rare Diseases Summer School
Kartause Ittingen, Warth (Canton Thurgau)
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Freitag, 13. Juli 2018 - Sonntag, 15. Juli 2018
Baltimore, United States
The Osteogenesis Imperfecta (OI) community will come together for three days of specialized sessions on managing OI, free medical consultations and fun social events for attendees of all ages!
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Samstag, 14. Juli 2018 - Sonntag, 15. Juli 2018
Family Conference for myotubular and centronuclear myopathy
London, United Kingdom
The conference, which is being hosted jointly by Myotubular Trust and ZNM - zusammen stark e. V., provides the opportunity to hear scientific presentations including recent developments on potential treatments for all centronuclear myopathies. There will also be a series of workshops on topics such as ventilation, physiotherapy, nutrition, independent living, holidaying and wheelchair services.
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Donnerstag, 19. Juli 2018 - Samstag, 21. Juli 2018
4th International Scientific Symposium on Usher Syndrome
Mainz, Germany
The aim of the meeting is to bring together the world’s leading experts from different fields of research (diagnostics, genetics, therapy, structural, molecular and cell biology) to present the latest developments in Usher syndrome.
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Freitag, 27. Juli 2018 - Samstag, 28. Juli 2018
The 2018 Lymphangiomatosis & Gorham’s Disease Alliance Patient & Family Conference
Dallas, United States
The conference will focus on generalized lymphatic anomaly / lymphangiomatosis (GLA), Gorham-Stout disease (GSD), and Kaposiform lymphangiomatosis (KLA). Leading clinicians and researchers will speak on topics including diagnostic approaches, challenges in clinical management, and ongoing and future research efforts.
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Samstag, 28. Juli 2018 - Sonntag, 29. Juli 2018
Hiermit laden wir Sie herzlich zum ersten deutschen Li-Fraumeni-Syndrom-Familientreffen nach Hannover ein. Im weiteren Verlauf dieser Seite finden Sie unser umfangreiches Veranstaltungsprogramm. Eine Anmeldung zum Treffen ist mit dem Formular am Seitenende möglich. Folgende Links führen Sie zu den entsprechenden Abschnitten auf dieser Seite:
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Donnerstag, 02. August 2018 - Samstag, 04. August 2018
15th International Symposium on MPS and related diseases
San Diego, United States
This symposium is an opportunity for the MPS and related diseases community to share and exchange new information, learn about new breakthroughs in science and medicine, and develop strategies to keep us moving forward. As we look to an exciting future filled with opportunities on a global scale, we thank you for your hard work and dedication to eradicating these diseases and welcome you to the 15th International Symposium on MPS and Related Diseases.
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Dienstag, 04. September 2018 - Freitag, 07. September 2018
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM)
Athens, Greece
The theme of the scientific program is: “Old Roads, New Connections”. The objective of the symposium is to show how ‘OLD’ knowledge is being transformed and ‘NEW CONNECTIONS’ are being recognized. Giving a better understanding of the physiology and thus the pathophysiology of IEM’s and provide new diagnostic tools and new targets for treatment.
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Montag, 10. September 2018 - Freitag, 14. September 2018
6th International Summer School Rare Disease & Orphan Drug Registries
Istituto Superiore di Sanità, Rome, Italy
Registries are key resources to help increasing timely and accurate diagnosis, improving patients management, tailoring treatments, facilitating clinical trials, supporting healthcare planning and speeding up research. The International Summer school intend: i) to promote the establishment of Findable, Accessible, Interoperable, Reusable (FAIR) registries in compliance with IRDiRC and EU Recommendations and ii) to support cooperation among different registry stakeholders and coordination with registries that are developed within European Reference Networks and National Plans in the EU. The School will consist of plenary presentations and interactive small-group exercises, according to the Problem-Based Learning methodology. The first part of the School (September 10-12, 2018) will provide participants with useful tools and methodologies to plan, establish and manage the registry activities. The second part (September 13-14, 2018) will be a hands-on experience (Bring Your Own Data), where the attendees work with FAIR data experts to make their data FAIR and linked to other data that has been made FAIR before. The School is open to health professionals, researchers, medical specialists, registry curators, database managers and representatives of patients associations involved in or intend to establish a rare disease registry, including inside European Reference Networks.
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Mittwoch, 12. September 2018 - Sonntag, 16. September 2018
16th International Conference on Neuronal Ceroid Lipofuscinoses (Batten Disease)
Royal Holloway, University of London
The Batten community convene an international scientific meeting every two years to share recent discoveries and advances for NCL disorders in order to support basic and clinical research and the development of new treatments. NCL2018 will be held at the modern conference facilities of Royal Holloway, University of London in September 2018. This meeting is expected to attract around 250 participants and will be of particular interest to basic scientists, clinicians, industry representatives and patient advocacy leaders with an interest in Batten disease.
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Freitag, 14. September 2018
1st European Transition Symposium
Lausanne, Switzerland
The aim of this symposium is to gather experts in transition from around Europe in order to share experiences and think together on where to go from now on.
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Samstag, 15. September 2018 - Sonntag, 16. September 2018
Mastozytose Jahrestreffen
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Montag, 17. September 2018
Gene Therapy Partnering Day
Paris, France
This one-day international matchmaking event aims to foster future public-private or public-public R&D collaborations by leveraging the complementarity of expertise and resources from academic researchers, clinicians, and biotech/medtech companies offering innovative technological solutions for gene therapy.
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Freitag, 28. September 2018 - Samstag, 29. September 2018
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Freitag, 05. Oktober 2018 - Sonntag, 07. Oktober 2018
10 Jahre Amyloidose-Zentrum
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Sonntag, 14. Oktober 2018 - Mittwoch, 17. Oktober 2018
11th ISNS European regional meeting
Bratislava, Slovakia
The conference will be focusing on the reality of screening results related to scientific and technological advancements. These changes are rapidly enabling neonatal screening forever more congenital conditions to become available. The keyword for this conference is 'reliability'.
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Montag, 15. Oktober 2018 - Dienstag, 16. Oktober 2018
Rare Diseases and Orphan Products Breakthrough Summit
Washington, United States
The NORD Rare Summit, which historically features more than 20 speakers from FDA and more than 80 thought leaders from the patient community and industry, provides a unique opportunity to hear from the experts and join the conversation on issues of unprecedented importance.
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Dienstag, 16. Oktober 2018 - Samstag, 20. Oktober 2018
ASHG 2018
San Diego
ASHG 2018 will feature invited presentations by the world’s leading geneticists, in addition to symposia, workshops, and abstract-driven sessions about new developments in basic, translational, and clinical human genetics research and technology.
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Samstag, 20. Oktober 2018 - Sonntag, 21. Oktober 2018
"Patientenschulungen haben das Ziel, die Patienten zu bestärken, ihre Probleme, welche die Erkrankung im Alltag aufwirft, selbständig und selbstbewusst zu bewältigen." Dies hat zum Ziel, die Lebensqualität chronisch kranker Patienten und deren Angehöriger zu verbessern. Erfahrene Trainer (Ärzte, Psychologen und Kranenschwestern) erarbeiten in der Schulung gemeinsam mit den Teilnehmern ein vertieftes Verständnis für die Erkrankung und ihre Behanldung. Wir wollen Ihnen helfen, mit den besonderen Herausforderungen, die die Krankheit ihres Kindes/Ihre Krankheit Ihnen im Alltag bereitet, offen und selbständig umzugehen.
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Freitag, 09. November 2018
ACHSE-Mitgliederversammlung und Fachtagung
Dorint Hotel Adlershof, Rudower Chaussee 15, 12489 Berlin
Die ACHSE-Mitgliederversammlung findet am 09. November 2018 in Berlin statt, mit anschließender Fachtagung am 10. November. Ort: Berlin Dorint Hotel Adlershof, Rudower Chaussee 15, 12489 Berlin Details werden noch bekannt gegeben.
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Sonntag, 11. November 2018 - Mittwoch, 14. November 2018
From Rare to Care: Discovery, Modeling and Translation of Rare Diseases
Work over the past 30 years has resulted in the identification of genes for ~50% of the estimated 7,000 rare genetic diseases; it is predicted that most of the remaining disease genes will be identified in the next 10 years. Approximately 500 medicinal products are currently on the market for rare diseases. The accelerating pace of rare disease gene identification means, in effect, an almost commensurate increase in molecularly defined, readily diagnosable, but nonetheless poorly understood and untreatable, diseases. This meeting will examine the current and future bottlenecks to gene discovery, disease modeling, and therapeutic approaches and suggest strategies to enable progress in this regard. Ultimately, successful deployment of precision medicine for rare diseases will inform such approaches more broadly.
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Samstag, 17. November 2018 - Sonntag, 18. November 2018
"Patientenschulungen haben das Ziel, die Patienten zu bestärken, ihre Probleme, welche die Erkrankung im Alltag aufwirft, selbständig und selbstbewusst zu bewältigen." Dies hat zum Ziel, die Lebensqualität chronisch kranker Patienten und deren Angehöriger zu verbessern. Erfahrene Trainer (Ärzte, Psychologen und Kranenschwestern) erarbeiten in der Schulung gemeinsam mit den Teilnehmern ein vertieftes Verständnis für die Erkrankung und ihre Behanldung. Wir wollen Ihnen helfen, mit den besonderen Herausforderungen, die die Krankheit ihres Kindes/Ihre Krankheit Ihnen im Alltag bereitet, offen und selbständig umzugehen.
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Freitag, 23. November 2018
ERN- SKIN training 2018
Bambino Gesù Hospital (Rome), Italy
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Donnerstag, 21. Februar 2019 - Samstag, 23. Februar 2019
HINET - Heidelberger Interdisziplinäre Neuropädiatrie Tage
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Sonntag, 03. März 2019 - Freitag, 08. März 2019
Gordon Research Conference on Lysosomal diseases
Galveston, TX, US
While critical for recycling effete structures and materials that allow essential macromolecules to be refashioned, the lysosome lies at the heart of the cell. By engaging in the most dynamic processes in cell biology, including endocytosis, exocytosis and autophagy, and with a key role in nutrient sensing, the acidic lysosomal compartment is central to cellular homeostasis. Additionally, lysosomes are differentially positioned within the cell to provide unique functions that they support, and traffic between cell regions. These myriad of functionalities help explain the broad spectrum of pathologies induced when proteins important for normal lysosome function are impaired.
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