Reporting - Virtual Conference - Rare Disease Day - Rare Disease Day ZSE Ulm 2021
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On Rare Disease Day, the international day of rare diseases, every year on the last day of February, those affected and supporters around the world set an example - for networked care, more research, solidarity and recognition.
This year's day, the 5th day of action organised by the ZSE Ulm, was held as a virtual conference for the first time. Despite the COVID-19 pandemic, we wanted to set an example here in Ulm and enable all interested doctors, self-help groups, those affected and their relatives to come together and give a voice to the estimated 30 million people with a rare disease in Europe and 300 million worldwide.
The registered participants were able to enjoy an extremely informative and varied programme. We were able to reach participants from all over Germany with our online event, which we were personally very pleased about. Important this year were not only the expert presentations on various clinical pictures, but also the dissemination of information for doctors in private practice on how an affected patient can be referred to a centre and what in particular needs to be considered here. Careful information was also provided on the challenges of treating patients with multiple physical complaints.
At the end of this first very successful day, some self-help groups were able to introduce themselves in a short presentation and report on their work, successes and developments as well as current problems relating to their work.
A total of almost 130 participants attended the online conference, which lasted over 4 hours.
We would like to thank all participants for organising this important day.
Centre for Rare Diseases (ZSE) Ulm
Aplastic anaemia and PNH - 6th Patient Day 2021
Here you will find the presentations of the 6th AA/PNH Patient Day 2021:
Event details
Lecture: Registry work - anything but boring (PD Dr Fabian Beier)
Lecture: Aplastic anaemia and PNH: What is it? (Prof Dr med Tim H. Brümmendorf)
Lecture: Clinical trials from the patient's perspective (Rainer Göbel)
Lecture: What if no transplant is performed? (Britta Höchsmann)
Lecture: New substances in development and application (Dr Sixten Körper)
Lecture: All Corona?! Risks from infections in AA and PNH (Sebastian Lemmen)
Lecture: Basic research and clinical development (Christoph Q Schmidt)
Lecture: Pandemic and psyche (Prof Juan Valdés-Stauber)
Lecture: Using resources - How do people with AA/ PNH do it? (Prof Juan Valdés-Stauber)
Virtual Conference - Rare Disease Day - Rare Disease Day ZSE Ulm
Dear colleagues, ladies and gentlemen,
The Centre for Rare Diseases (ZSE) at Ulm University Hospital would like to cordially invite all patients, doctors and interested people to the 5th Action Day on the occasion of the "International Day of Rare Diseases" on Saturday, 27.02.2021 .
Participation
Please register using the registration form in the flyer. This can be done by post or by e-mail at zse@uniklinik-ulm.de.
Once you have registered, you will receive your access data for the online event separately by e-mail in good time before the start of the event.
Participation in the event is free of charge.
The event is recognised by the Baden-Württemberg Medical Association with 3 continuing education points.
Here you will find the programme and the registration form for this virtual event.
1st Southern German Rare Disease Symposium 29.02.2020
On Rare Disease Day, the international day of rare diseases, every year on the last day of February, those affected and supporters around the world set an example - for networked care, more research, solidarity and recognition.
The initiators - the Centre for Rare Diseases (ZSE) at Ulm University Hospital, the Association of Statutory Health Insurance Physicians in Bavaria (KVB) and the Association of Statutory Health Insurance Physicians in Baden-Württemberg (KVBW) along with other supporters - jointly organised this year's day at the Haus der Begegnung.
The event was opened by Prof. Klaus-Michael Debatin, Centre Director of the ZSE Ulm and Medical Director of the Clinic for Paediatric and Adolescent Medicine Ulm. This was followed by a speech by Dr Holm Graessner, Managing Director of the Centre for Rare Diseases Tübingen, who reported on the European Reference Networks and their importance.
This was followed by extremely interesting presentations on topics such as lipodystrophy, hereditary cardiac arrhythmia and the very rare disease Fabry disease. At the same time, four different workshops were held, e.g. - medication for rare diseases by the head of the hospital pharmacy at Ulm University Hospital - for interested listeners, patients, doctors or psychotherapists who had already registered.
All those present were very interested in entering into dialogue with the experts and asking their questions. There was a very good and constructive discussion, which was professionally managed by the moderator present.
Once again this year, a large number of self-help groups agreed to support the day with their presence. A total of 27 self-help groups were on site with their information stands to answer questions from interested visitors and those affected.
We would like to thank all those involved for organising this important day.
Centre for Rare Diseases (ZSE) Ulm
A summary of the 2020 symposium can be found under the links below.
Impressions:
Live survey
Find out more about Rare Disease Day worldwide here:
Reports from the workshops at the 1st South German Rare Disease Day 2020
Report on Workshop 3 - "Rare diseases and the psyche"
Report on Workshop 4 - "Drugs for rare diseases - customised drugs from the hospital pharmacy"
Videos
The last day of February is Rare Disease Day. And it is very important for those affected, but also for doctors.
Around 8,000 diseases affecting people worldwide are considered rare. However, the fewer people who have to fight a particular disease, the more incomplete the available knowledge about it. This pushes doctors in particular to their limits - but also those affected. Just like little Emily and her parents.
Greetings
Dr Andreas Knoll
Prof Dr Debatin
Prof Dr Landwehrmeyer
Balloon campaign
Self-help groups
Welcome by Prof Dr Klaus-Michael Debatin, Vice-President of Ulm University for Medicine
Greetings from Ivo Gönner, Lord Mayor of the City of Ulm
Speech on German research into rare diseases by Prof Dr Annette Schavan, Federal Minister for Research and Education
Eva Luise Köhler (Eva Luise & Horst Köhler Foundation, patron of ACHSE e. V.) on the situation of people with a rare disease
Prof Dr Frank Lehmann-Horn (Hertie Senior Research Professor, ZSE Board Member) talks about patient care and research at the ZSE Ulm
Sixth Willi Kühne Lecture: US Research on Rare Diseases by Dr Stephen Groft National Institutes of Health (Washington, DC)
Presentation of the Willi Kühne Prize to Dr Stephen Groft by Dr Karin Jurkat-Rott
Closing remarks by Prof Dr Reinhard Dengler, Chairman of the German Muscular Dystrophy Society
Press archive
Severe obesity in children and adolescents - Current treatment options - Lecture on 11.07.24
What causes severe overweight (obesity)? Is being overweight (obesity) bad for your health? What new treatment options are available? What are the treatment goals? The problem of stigmatisation. Prof. Dr Martin Wabitsch, Head of the Paediatric Endocrinology and Diabetology Section at the Department of Paediatrics and Adolescent Medicine at Ulm University Hospital, will talk about these and other topics.
10th Symposium: HÄMATOLOGIE HEUTE on 27.04.24
Dear colleagues,
We are delighted to invite you to our 10th HÄMATOLOGIE HEUTE symposium! It will take place from 25 to 27 April 2024 in the Stadthaus Ulm. Once again, you can expect a colourful bouquet of exciting topics in classical haematology, from more general overview presentations to more specific lectures on rare diseases and their background, illuminated from a paediatric and internal haematological perspective. [...]
Best regards
Holger Cario & Stephan Lobitz
All information, registration and programme:
https://www.haematologie-heute.de/
Patient seminar on lipodystrophy on 09.04.24
Due to the rarity of lipodystrophy and the flood of information on the Internet, it is often difficult to obtain validated information. With this patient seminar, we would like to offer you a framework for exchanging information and experiences.
Download the flyer:
Complete information flyer with participation information
Meeting of the South German paediatric endocrinologists on 16.03.2023 in Ulm
The programme includes, among other things:
- The law for the protection of children with sex variations (§1631e BGB) - implications in clinic and practice
Ethical and legal aspects
Dr M. Kapapa, Ulm - Interdisciplinary care of children and adolescents with gender developmental variants using the example of the Ulm DSD Consultation Centre
K. Winner, Dipl.-Psych. A. Bauer, Ulm - Case example(s) for commission decisions and subsequent surgical procedure
Dr D. Dunstheimer, Dr T. Schuster, Augsburg - Followed by discussion (presentation of further cases from the centres possible)
- AGS and hypothyroidism: status of participation of the southern German centres, evaluation requests and project ideas
Prof. Dr. R. Holl, A. Eckert, Ulm - Case collection project for patients with vitamin D intoxication: next steps
Dr D. Dunstheimer, Augsburg - Presentation of unresolved diagnostic or therapeutic problems with subsequent case discussion
Download the full programme:
Complete programme
On International Rare Disease Day, this time in leap year, events will be organised to raise awareness of the concerns of people affected by a rare disease.
The Centre for Rare Diseases (ZSE) Ulm will also be actively involved this year with campaigns to mark the day.
Campaign planned by the Centre for Rare Diseases (ZSE) Ulm:
- Global Chain of Light for Rare Disease Day: Kienlesbergbrücke in Ulm
Weblink:
Official press release of the ZSE Ulm: Share your colours - because rare are many!
Further information on the worldwide campaigns can be found at:
Rare Disease Day 2024
Rare Disease Run 2024
Symposium: Ehlers-Danlos syndrome (EDS)
The German Ehlers-Danlos Initiative e.V. is organising a symposium on Ehlers-Danlos syndromes (EDS) in 2023. The event will take place in Munich and will begin on Friday, 21 April 2023 with a training course for doctors and scientists, followed by a day for those affected on Saturday, 22 April 2023. Further information can be found in the event flyer.
Why hardly any disease speaks against a corona vaccination
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If you take a look at social media, you get the impression that there are many people who are not allowed to be vaccinated against coronavirus. But that's not true, say doctors from Ulm.
In hundreds of tweets, users report on Twitter that they are not allowed to be vaccinated. Sometimes cancer, sometimes an autoimmune disease or an increased risk of thrombosis is cited as the reason. According to the Robert Koch Institute (RKI), these are"false contraindications". This means that it is wrongly assumed that a certain group of sufferers should not be vaccinated.
However, this is not the case with the coronavirus vaccination, says Professor Klaus-Michael Debatin, spokesperson for the Centre for Rare Diseases at Ulm University Hospital.
Virtual running week from 28.02.2023-05.03.2023
Further information can be found at:
Initiator SYNGAP e.V
https://www.syngap.de/Mitmachen-Unterstuetzen/Projekt-Rare-Diseases-Run/
Organised by "Laufen macht glücklich"
https://laufenmachtgluecklich.de/
Online training via Zoom. Registration required.
Wednesday, 14 December 2022 from 17:00
Registration under:
https://www.zse-tuebingen.de
Event flyer
The Covid-19 situation is currently worsening daily and the number of reported new coronavirus infections is increasing exponentially. Rare Disease Day thrives on personal encounters. Against this background, we as the organisers of the "International Day of Rare Diseases" planned for Saturday, 19 February 2022, have decided to postpone the event to a later date.
Thank you for your interest and your registration! Please refer to our calendar of events for a new date.
We would be delighted if you could join us again.
Yours
Prof. Dr Klaus-Michael Debatin
Chairman of the Board of the Centre for Rare Diseases (ZSE) Ulm
Prof. Dr Martin Wabitsch
Secretary of the Centre for Rare Diseases (ZSE) Ulm
You are something very special.
Also because you have a rare and therefore very special disease. That's why you need more help and attention than others. Your family, doctors, therapists, carers, patient organisations and much more are at your side so that you can live with this rare disease as well as possible. [...]
You can find information about the campaign at
Nachdem im Herbst 2020 unser traditioneller Sklerodermiepatiententag pandemiebedingt ausfallen mußte, vereinigte das Zentrum für seltene Hauterkrankungen in diesem Jahr seine Kräfte mit der Sklerodermie Selbsthilfe e.V. und bot zum Sklerodermiepatiententag eine virtuelle Veranstaltung an.
Besonders schön war, dass im Rahmen der Veranstaltung erstmalig auch für die Patient(inn)en mit lokalisierter Sklerodermie ein spezielles Angebot enthalten war.
Aufgrund des Formates konnten wir Frau Professor Moinzadeh aus der Universitätsklinik Köln als ausgewiesene Expertin für einen Vortrag gewinnen, der den Zuhörern kurzweilig einen sehr anschaulichen Überblick über die vielfältigen Formen und Therapiemöglichkeiten bot.
Hilfe zur Selbsthilfe in den Zeiten der Pandemie stellte Herr Lütge als Physiotherapeut der Dermatologie der Universitätsklinik Ulm in den Mittelpunkt seiner Anleitungsdemonstrationen, die einen Überblick über die Möglichkeiten und Indikationen der Physiotherapie bei systemischer Sklerodermie darstellten und im Anschluß ein für Jedermann und Jedefrau durchführbares kleines gymnastisches Morgenprogramm einschulten.
Schließlich stellte Frau Privatdozentin Dr. Pfeiffer bewährte und neue Therapieverfahren bei der systemischen Sklerodermie vor. Erfreulicherweise profitieren Patient(inn)en mit systemischer Sklerodermie davon, dass im letzten Jahrzehnt viele Daten zum Nutzen von Therapieverfahren sowohl der eigentlichen Sklerodermie als auch spezifischer Organbeteiligungen wie pulmonaler Hypertonie, Lungenfibrose und renaler Hypertonus in klinischen Studien gewonnen wurden. Im Anschluß wurden die im Chat gesammelten Fragen der Teilnehmer beantwortet.
Die Physiotherapiefilme sind über die homepage der Sklerodermie Selbsthilfe verfügbar. Kurzfassungen der Vorträge erscheinen im SkleroMagazin.
Insgesamt war es eine sehr gelungene Veranstaltung, an der 194 Betroffene aus ganz Deutschland virtuell teilnahmen (hiervon ca. 70 Patienten mit Bezug zur Kollagenosesprechstunde der Klinik für Dermatologie und Allergologie), neben Teilnehmern aus Polen (1), Österreich(2) und der Schweiz(1). Das Feedback war durchwegs positiv und besonders freut uns, dass auch ältere Teilnehmer den weg zu dieser virtuellen Veranstaltung fanden.
The Centre for Rare Diseases (ZSE) Ulm, the joint institution of Ulm University and Ulm University Hospital, mourns the loss of Guntram Borck.
Prof. Borck was a renowned human geneticist who was able to ideally combine excellent expertise and an outstanding research profile with counselling for patients and those seeking advice. After studying medicine and undergoing clinical training in human genetics and molecular genetics, he worked for many years at the internationally renowned Institute of Genetics at the Hôpital Necker-Enfants Malades in Paris, where he also obtained his doctorate in natural sciences (PhD). After his return, he initially worked in Cologne and from 2011 at the Institute of Human Genetics at Ulm University Hospital, under the then Director Prof Christian Kubisch. From 2014 to 2016 he was acting director and from 2016 deputy director of the institute. His scientific profile is impressively documented with more than 100 original papers. He recognised the importance of genome-wide sequencing techniques at an early stage in order to elucidate the genetic cause of unexplained human diseases.
Lack of fatty tissue - a disorder with serious consequences
Babies are usually chubby with small fat pads. This is not the case with familial, generalised lipodystrophy. These babies have hardly any subcutaneous fatty tissue, but elevated triglyceride levels in the blood - and show serious failure to thrive.
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There are people who cannot be clearly assigned to the male or female sex biologically. Medicine refers to this as "differences of sex development" (DSD). Children and their families who receive this rare diagnosis are often at a loss and look for help and information, which can usually only be found in a few specialised centres. In order to better treat and support children and adolescents with a variant of sex development, the Hormone Centre of the Department of Paediatrics and Adolescent Medicine at Ulm University Hospital (UKU) is participating in the "Empower DSD" project. In this context, the clinic's experts regularly offer training courses for those affected and their parents. [...]
Full press release
Empower training dates
InfoDSD information portal
InfoDSD supports everyone involved in the care of children, adolescents and adults with Differences of Sex Development (DSD).
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Expert interview with Dr Alexandre Serra - Head of the Paediatric Surgery Section of the Department of Surgery at Ulm University Hospital.
Here you will find the link to the download and the ePaper of the issue as PDF.
Dear colleague, dear colleague,
We would like to invite you to the first interdisciplinary case conference of the Centre for Rare Neurological Diseases (ZSNE) and the Centre for Rare Neuromuscular Diseases (ZSNME). For this event, we have put together four clinically and scientifically interesting interdisciplinary cases, which we would like to discuss with you over lunch.
Yours sincerely,
Prof. Dr A. C. Ludolph
Head of the ZSNE and ZSNME
20 November 2019 is International Children's Rights Day and the UN Convention on the Rights of the Child is celebrating its 30th anniversary. To mark this occasion, paediatric clinics around the world have joined forces to raise public awareness of children's health needs. They have published a joint declaration in which they call for early and sustainable investment in children's health.
Please support the appeal and spread the statement via your networks and platforms - for the health of our children!
Click here for the document: Appeal Children's Hospitals(English, German)
On Rare Disease Day, the international day of rare diseases, every year on the last day of February, those affected and supporters around the world set an example - for networked care, more research, solidarity and recognition.
On this year's Rare Disease Day, the Centre for Rare Diseases (ZSE) Ulm took part for the third time with a day of action to give those affected a voice on this important day and to draw attention to the importance of all aspects of the issue.
For the first time, the event took place in the town hall in Ulm and was opened by the Centre Director of the ZSE and Medical Director of the Clinic for Paediatric and Adolescent Medicine, Prof. Klaus-Michael Debatin. This was followed by words of welcome from the 1st Lord Mayor, Mr Gunter Czisch, and Prof. Peter Möller, Deputy Medical Director of Ulm University Hospital.
Afterwards, the visitors were able to listen to the various specialist presentations, such as those by Prof. Albert Ludolph, who spoke about the new therapeutic approaches for ALS, as well as the specialist presentation on rare congenital connective tissue diseases such as Ehlers-Danlos syndrome.
Once again this year, a large number of self-help groups agreed to support the day with their presence. A total of 15 self-help groups were on site with their information stands, short presentations and to answer questions from interested visitors and those affected.
Picture impressions and a video of the 2019 campaign day can be found on the right.
We would like to thank all those involved for organising this important day.
Centre for Rare Diseases (ZSE) Ulm
You can find out more about Rare Disease Day worldwide here:
www.rarediseaseday.org
The Centre for Rare Diseases (ZSE) Ulm, which is based at Ulm University Hospital, has been a consortium partner of the research project "ZSE-DUO - Dual pilot structure for clarifying unclear diagnoses in centres for rare diseases" since 1 October 2018. The project aims to investigate whether joint patient care by a somatic specialist and a specialist in psychiatry and psychotherapy or psychosomatic medicine can improve and shorten the diagnosis process. The research project is funded by the Innovation Fund of the Joint Federal Committee under the direction of the Centre for Rare Diseases - Reference Centre North Bavaria.
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There are around 8,000 diseases that are considered rare, affecting around four million people in Germany alone. To set an example for these "orphans of medicine", the Centre for Rare Diseases (ZSE) at Ulm University Hospital is once again taking part in the global day of action for rare diseases in 2020. This time, the day is being organised together with the Baden-Württemberg and Bavarian Associations of Statutory Health Insurance Physicians. The day of action offers affected persons, relatives, doctors and all interested parties the opportunity to obtain information and exchange ideas.
You can find the programme and the registration form for this specialist day here. Registration deadline would be 17.02.2020.
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The "Endocrinological Consultation" training series, which is being held this year by the University of Ulm in cooperation with the company IPSEN, includes practice-relevant topics with clinical questions that are not always easy to answer. We have again selected some of these topics for this year's event.
All information on the programme, registration and directions
Venue:
Wissenschaftszentrum Schloss Reisenburg of the University of Ulm
Registration:
Please register on our homepage:
https://www.ipsen-kongresse.de/endokrinologische-sprechstunde-2020
Rare Disease Day - 3rd day of action on 28 February 2019 in Ulm
On Rare Disease Day, the international day of rare diseases, every year on the last day of February, those affected and supporters around the world set an example - for networked care, more research, solidarity and recognition.
On this year's Rare Disease Day, the Centre for Rare Diseases (ZSE) Ulm took part for the third time with a day of action to give those affected a voice on this important day and to draw attention to the importance of all aspects of the issue.
For the first time, the event took place in the town hall in Ulm and was opened by the Centre Director of the ZSE and Medical Director of the Clinic for Paediatric and Adolescent Medicine, Prof. Klaus-Michael Debatin. This was followed by words of welcome from the 1st Lord Mayor, Mr Gunter Czisch, and Prof. Peter Möller, Deputy Medical Director of Ulm University Hospital.
Afterwards, the visitors were able to listen to the various specialist presentations, such as those by Prof. Albert Ludolph, who spoke about the new therapeutic approaches for ALS, as well as the specialist presentation on rare congenital connective tissue diseases such as Ehlers-Danlos syndrome.
Once again this year, a large number of self-help groups agreed to support the day with their presence. A total of 15 self-help groups were on site with their information stands, short presentations and to answer questions from interested visitors and those affected.
Picture impressions and a video of the 2019 campaign day can be found below.
We would like to thank all those involved for organising this important day.
Centre for Rare Diseases (ZSE) Ulm
You can find out more about Rare Disease Day worldwide here:
www.rarediseaseday.org
A day in pictures:
Around 8,000 diseases are rare!
The last day of February is Rare Disease Day. And it is very important for those affected, but also for doctors.
Obituary: Prof. Dr Dr h.c. Dipl. Ing. Frank Lehmann-Horn
The Centre for Rare Diseases (ZSE) Ulm, Ulm University Hospital and the Faculty of Medicine mourn the loss of an outstanding Ulm physician and neuroscientist Prof. Dr. Dr. h.c. Dipl. Ing. Frank Lehmann-Horn, who passed away on 8 May 2018 after a serious illness. Prof. Lehmann-Horn co-founded the Centre for Rare Diseases (ZSE) Ulm in 2011, which has set itself the task of providing a contact point for all those seeking advice with unexplained clinical pictures in order to obtain a reliable diagnosis and adequate therapy. In his research work, Prof Lehmann-Horn has devoted himself in particular to rare muscle diseases such as ion channel diseases. For patients who have not yet received a diagnosis, he has opened up new hope of being able to lead a largely normal life.
Rare non-malignant bone marrow diseases
When: 11 May 2019, 09:00 - 16:00
Location: Institute for Clinical Transfusion Medicine and Immunogenetics Ulm, Seminar Room, Helmholtzstraße 10, 89081 Ulm
Event details
International Day of Rare Diseases - day of action on 28 February 2018 in Ulm
Ulm took part in this year's Rare Disease Day for the second time with a day of action to give those affected a voice on this important day and to draw attention to the importance of all aspects.
The day was organised by the Centre for Rare Diseases (ZSE) Ulm in cooperation with the Huntington's self-help group and Achse e.V. - Allianz Chronischer Seltener Erkrankungen.
- "Suddenly the power is gone" - Südwest-Presse from 07.03.2015 (PDF)
- "Healing of a paralysed woman" - Stern Wissen article from 10.07.2014 (PDF)
- "Who's who of the rarities" - Handelsblatt from 09/07/2014 (PDF)
- "Medical expert search from online literature databases" - Die Welt in February 2014 (PDF)
- "Damage to the nervous system" - Handelsblatt in December 2013 (PDF)