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Ayuda a mejorar las vidas de los afectados por la Displasia Ectodérmica
HAZ TU DONATIVO: http://www.mgda.es/r/1/5604 Campaña de crowdfunding para recaudar fondos para una investigación sobre Displasia ectodermica. Ignasi Serrahima correrá la maratón de Barcelona en nombre del programa de radio "El club de la Mitjanit" para dar a conocer esta enfermedad que afecta a dos de sus hijos y recaudar fondos a través de una campaña en "Mi grano de arena": http://www.mgda.es/r/1/5604 Música: grupo F. T. G - canción "M10?1)"
Просмотров: 683 eurordis
Alcaptonurie : Les témoignages de 2 patientes / Alkaptonuria: 2 patients' stories
Selena and Almasse discuss living with the rare metabolic disease, Alkaptonuria, or AKU during the recent International AKU Conference in Slovakia. Subtitled into English, further languages coming. For more on AKU visit the AKU Society: http://www.akusociety.org/ and join the International AKU Community: http://www.rareconnect.org/en/community/alkaptonuria-aku
Просмотров: 546 eurordis
Michaela - Contergan Austria
Michaela Moik, of Contergan Austria (http://www.contergan.at/), a member of EDRIC European Limb Difference organisation (http://www.dysnet.org), speaks about their fight for compensation for damage caused by thalidomide (Contergan) and about recently traveling to Malmo, to take part in a meeting where 16 limb difference/dysmelia groups from all over Europe swapped ideas and information. Join the international limb difference community on RareConnect: http://www.rareconnect.org/en/community/dysnet
Просмотров: 2959 eurordis
Vivre avec le syndrome Muckle Wells (CAPS - Cyropyrin Associated Periodic Syndromes)
Paul Rivière, président de l'association AMWS/CINCA, et malade atteint du syndrome de Muckle Wells, témoigne. Lien envers l'association AMWS/CINA http://www.amws-cinca.eu/ Lien envers une communauté international CAPS: https://www.rareconnect.org/fr/community/caps
Просмотров: 2954 eurordis
Pr Hubert Nivet: Les différents types de SHU
Voici la présentation du Pr Hubert Nivet à la 2ème Journée Nationale sur le SHU Atypique. Cet évènement s'est déroulé le samedi 16 juin à l'Hôpital Européen Georges Pompidou (HEGP) à Paris. Cette intervention avait pour thème "Les différents types de SHU". lien du support de la présentation: http://eurordiscloud.s3.amazonaws.com/2_Les%20differents_types_de_SHU_HNivet.pdf Lien de l'AIRG France: http://www.airg-france.fr/ Lien de la communauté SHUA sur RareConnect: http://www.rareconnect.org/fr/community/syndrome-hemolytique-et-uremique-atypique-shua
Просмотров: 701 eurordis
Trimethylaminuria (TMAU): history, diagnosis and genetics
George Preti, PhD & Danielle R. Reed, PhD Monell Chemical Senses Center & Paul V. Fennessey, PhD Department of Pediatrics, Children's Hospital Colorado University of Colorado, Anschutz Medical Campus Webinar supported by the international TMAU community on RareConnect, join today: http://www.rareconnect.org/en/community/trimethylaminuria
Просмотров: 5782 eurordis
TMAU 5th Webinar:  Overview of TMAU.
Prof George Preti of Monell Chemical Senses Center has a webinar about Trimethylaminuria (TMAU) to the TMAU community. Monday 3rd April 2017.
Просмотров: 822 eurordis
Elmas Citak - speaking about Beta Thalassaemia Major
Elmas attended the 5th European Rare Disease Conference in Krakow, Poland in May 2010. She lives in the Netherlands and is involved with the OSCAR Netherlands patient group.
Просмотров: 688 eurordis
Rare Disease Day 2013 Message from the European Rare Disease Organisation (EURORDIS)
Watch Yann Le Cam, Chief Executive Officer, EURORDIS give a message about Rare Disease Day 2013. Visit the Rare Disease Day website to get involved: http://www.rarediseaseday.org Share the official 2013 Rare Disease Day video: http://youtu.be/n6HReXaUUSw
Просмотров: 1799 eurordis
National Alkaptonuria (AKU) Centre in Liverpool
Dr. L Ranganath presents the Robert Gregory National Alkaptonuria Centre in Liverpool, UK. To learn more about AKU visit the AKU Society's website http://www.akusociety.org/ Join the AKU Community on RareConnect http://www.rareconnect.org/en/community/alkaptonuria-aku
Просмотров: 209 eurordis
Two families living with a FOXP1 gene mutation meet in person
Join the FOXP1 community to meet others from around the world: https://www.rareconnect.org/en/community/foxp1
Просмотров: 3933 eurordis
Information about Congenital Disorders of Glycosylation (CDG)
Interview with Dr Belèn Pérez Dueñas (Neuropaediatrician from Hospital Sant Joan de Déu, Barcelona, Spain) about Congenital Disorders of Glycosylation (CDG), diagnosis, treatments and research. Please visit the CDG online community: http://www.rarediseasecommunities.org/en/community/cdg
Просмотров: 2455 eurordis
Opening Speech by Robert Madelin to European Workshop on Rare Disease Research
Excerpt from the opening Speech by Robert Madelin, Director General Health and Consumers, European Commission (EU) to a European Workshop on Rare Disease Research organised by EURORDIS held March 1st in Brussels entitled 'Bridging Patients and Researchers to Build the Future Agenda for Rare Disease Research in Europe'. Throughout the day, prestigious speakers, panellists and discussants made the case for Rare Disease research to be included in public funding schemes and remain high in the European research agenda. Workshop outcomes & presentations available here: http://www.eurordis.org/content/european-workshop-rare-disease-research
Просмотров: 1410 eurordis
Professor Tim Goodship and aHUS
Professor Goodship from Newcastle University has been interested in atypical HUS for nearly twenty years. He describes the recent Patient Family conference that took place in Newcastle.
Просмотров: 709 eurordis
Interview with Lise Murphy of Swedish Marfan Association
Lise Murphy of Swedish Marfan Association speaks to Paloma Tejada of EURORDIS at the conclusion of the 2009 EURORDIS Summer School for traning patient advocates in Clinical Trial protocols and Orphan Drug regulatory affairs
Просмотров: 494 eurordis
Jacky Goineau - (France), Osteogénèse Imparfaite
[en francais] Jacky attended the 5th European Conference on Rare Diseases which took place in Krakow, Poland between May 13 - 15 2010. Jacky is involved with the patient group Association de l'osteogénèse Imparfaite (AOI) in France
Просмотров: 879 eurordis
Pseudomyxoma Peritonei (PMP) community webinar
The webinar featured presentations by: -Michael Healy, Pseudomyxoma Survivor, Ireland, "Webinar Introduction" -Dr. Faheez Mohamed, Consultant Surgeon at Basingstoke and North Hampshire Hospital, UK, "Pathology, surveillance and managing recurrence of PMP"' -Dr. Wim P Ceelen, Staff surgeon, GI Surgery, Ghent University Hospital, Holland "Diagnosis/staging, surgery, and postoperative quality of life" To meet others living with PMP and ask questions, join the community: https://www.rareconnect.org/en/community/pseudomyxoma-peritonei/article/pmp-community-webinar
Просмотров: 1593 eurordis
Billie Jean - Living with Pitt Hopkins Syndrome and Chromosome 18Q-
Billie Jean, Ian, and Linda share what they have learned about Pitt Hopkins syndrome during the Pitt Hopkins UK Family meeting 2014. Join the international Pitt Hopkins syndrome community on RareConnect: https://www.rareconnect.org/en/community/pitt-hopkins-syndrome Please turn your volume UP when watching the video.
Просмотров: 1420 eurordis
Webinar en español sobre la Trimetilaminuria o TMAU
Este webinar estará conducido por la Coordinadora de RareConnect Marta Campabadal y contará con la participación de la Doctora Mercedes Serrano de la Unidad de Metabólicas del Hospital Sant Joan de Déu de Barcelona y de Maria de la Torre, fundadora del Mebo Research. Durante el webinar se habó de la página web de la Guía Metabólica como recurso para afectados por la TMAU ya que también cuentan con una comunidad para la TMAU. También se informó sobre lugares en España donde hacerse la prueba de la TMAU, como hacerse la prueba a través de MEBO y se profundizó en el manejo de la enfermedad. Programa: - Introducción al webinar: la comunidad de TMAU en RareConnect - Maria de la Torre - Actividades del MEBO Research - Dra. Mercedes Serrano - TMAU innata, Guia Metabólica, información sobre la prueba - Preguntas y discusón abierta Enlace a la comunidad de Trimetilaminuria en RareConnect: https://www.rareconnect.org/es/community/trimetilaminuria
Просмотров: 1935 eurordis
Daniel Copeland - Living with TAR Syndrome
Daniel Copeland, from Liverpool in the UK is a student and a DJ. He is only the 18th person in the country to have been born with TAR Syndrome, which is short for Thrombocytopenia with Absent radius. Daniel is part of a small support group for people with TAR Syndrome and the group has joined DysNet's (http://www.dysnet.org) parent organisation, EDRIC, to join other dysmelia & limb loss groups and help make their voice louder. Here, he talks about his life and work with the TAR Syndrome Support Group: http://www.ivh.se/TAR/ Join the international limb difference community on RareConnect: http://www.rareconnect.org/en/community/dysnet
Просмотров: 7856 eurordis
Living with aHUS in Spain
The Monfort family describes the situation for those affected by aHUS in Spain.
Просмотров: 252 eurordis
Cryoglobulenemia by Dr. Anoniette M. Gatti
Просмотров: 1654 eurordis
Pr Michel Tsimaratos: Le SHUa de l'enfant et son traitement en 2012
Voici la présentation du Pr Michel Tsimaratos à la 2ème Journée Nationale sur le SHU Atypique. Cet évènement s'est déroulé le samedi 16 juin à l'Hôpital Européen Georges Pompidou (HEGP) à Paris. Cette intervention avait pour thème "Le SHUa de l'enfant et son traitement en 2012". lien du support de présentation: http://eurordiscloud.s3.amazonaws.com/4%20Le_SHUa%20de%20l_enfant_et_son_traitement_en_2012_Michel_Tsimaratos.pdf Lien de l'AIRG France: http://www.airg-france.fr/ Lien de la communauté SHUA sur RareConnect: http://www.rareconnect.org/fr/community/syndrome-hemolytique-et-uremique-atypique-shua
Просмотров: 905 eurordis
Alkaptonuria (AKU) Clinical Trial Webinar: SONIA 2
Join the AKU community on RareConnect: https://www.rareconnect.org/en/community/alkaptonuria-aku Alkaptonuria (AKU) was first discovered in 1902. More than 100 years later, the drug nitisinone has been identified as the first potential treatment for AKU. Nitisinone is already licensed as a treatment for another rare disease, but it's yet to be approved for treating AKU. Lab experiments show nitisinone could stop the progression of AKU while clinical research from the US showed it can reduce levels of homogentisic acid (HGA), the cause of AKU damage, by up to 95%. However, further clinical trials are required to prove that nitisinone is effective in treating AKU. Our first clinical trial, SONIA 1, is now almost complete and we are seeking AKU patients from across Europe to participate in our second longer trial, SONIA 2. This trial will last four years and will assess the long-term suitability of nitisinone for use in AKU patients. It will start in late 2013. The trial will be based at three test centres in Europe: Liverpool (UK), Paris (France) and Piestany (Slovakia). Patients will need to make a total of 6 visits to a test centre, with each visit lasting 2 to 4 days. They will also need to complete questionnaires between visits and there will be a follow up phone call a month after the last visit. Patients will be randomly divided into two groups. One group will receive nitisinone and the other will receive no treatment. Comparing the two groups is essential to prove nitisinone slows the progression of AKU in order to get nitisinone licensed for AKU. Both the treatment and non-treatment groups will have regular contact with AKU experts. These experts and other health practitioners will monitor the progression of your AKU and your general health through a range of assessments. For those in the treatment group, they will also monitor any side effects that may occur. Long distance and international travel within Europe will be arranged and paid for by the trial. Accommodation will be provided at either the hospital or at a local hotel if necessary. Other reasonable expenses such as local travel will be reimbursed. We have received funding from the European Commission to cover these costs. All official printed information will be translated into patients' native languages and interpreters will be provided for non-English speakers during test centre visits. Wherever possible, we will arrange for you to visit the test centre with another patient who speaks the same language as you. We are conducting these clinical trials to help patients with AKU: nitisinone could be the treatment that they have been waiting for. If you are interested in participating in this clinical trial or if you would like more information, please visit http://www.developakure.eu or contact our Clinical Trials Coordinator, Hana Ayoob. You can email her at hana@akusociety.org or ring +44(0)1223 322897.
Просмотров: 494 eurordis
Professeur Fadi Fakhouri: Le SHUa de l'adulte et son traitement en 2012
Voici la présentation du Pr Fadi Fakhouri à la 2ème Journée Nationale sur le SHU Atypique. Cet évènement s'est déroulé le samedi 16 juin à l'Hôpital Européen Georges Pompidou (HEGP) à Paris. Cette intervention avait pour thème "Le SHUa de l'adulte et son traitement en 2012". Lien de l'AIRG France: http://www.airg-france.fr/ lien du sopport de la présentation: http://eurordiscloud.s3.amazonaws.com/6_Le_SHUa_de%20l_adulte_et_son_traitement_en_2012_F_Fakhouri.pdf Lien de la communauté SHUA sur RareConnect: http://www.rareconnect.org/fr/community/syndrome-hemolytique-et-uremique-atypique-shua
Просмотров: 1307 eurordis
FOXP1 webinar with Seaver Autism Center
A team of researchers at the Seaver Autism Center at the Icahn School of Medicine at Mount Sinai in New York has been providing evaluations and clinical research for families of other genetic syndromes for some time now, and has recently begun working with FOXP1 families. In this RareConnect webinar, we will have a chance to hear from these investigators and to ask them questions about their work, how it could benefit us and their future plans for FOXP1 research. Download the slides and meet other families with FOXP1: https://www.rareconnect.org/en/community/foxp1/article/foxp1-community-webinar
Просмотров: 469 eurordis
Synthetic Biology and Microbiome Engineering approaches for Trimethylaminuria
Jake Wintermute, Ph.D. Postdoctoral Researcher, Paris Descartes University For more information, join the international TMAU community on RareConnect: https://www.rareconnect.org/en/community/trimethylaminuria
Просмотров: 980 eurordis
Sonja Brache, Marshall Smith syndrome, MSS Research Foundation
(In het Nederlands) Sonja was a participant in the European Conference on Rare Diseases (ECRD) Krakow 2010. Sonja is a member of the MSS Research Foundation in the Netherlands.
Просмотров: 346 eurordis
Play Decide! and empower yourself as a rare disease patient or representative
A video portraying a debate exercise which allows rare disease patients and patient representatives to discuss health policy issues in a safe and entertaining way
Просмотров: 1301 eurordis
Rare Diseases: we are 30 milllion in Europe. Each of us is a real person
Together we are strong. You can see us if you try http://www.eurordis.org
Просмотров: 11968 eurordis
Living with Erythropoietic protoporphyria (EPP)
5 international people living with EPP and members of the Porphyria community on RareConnect.org, share the effect that Erythropoietic protoporphyria (EPP) has on their lives. Join us there: https://www.rareconnect.org/en/community/porphyria/understand
Просмотров: 1294 eurordis
DevelopAKUre clinical trials update webinar on Alkaptonuria
Prof. Ranganath speaks about progress in the DevelopAKUre clinical trials to date, and answer questions from people living with Alkaptonuria (AKU) and their loved ones. Join the AKU community on RareConnect to discuss with others: https://www.rareconnect.org/en/community/alkaptonuria-aku
Просмотров: 175 eurordis
EURORDIS Patient Organisation Award 2013: Alström UK
Kay Parkinson, Chief Executive of Alström Syndrome UK, speaks about receiving the EURORDIS Patient Organisation Award in 2013.
Просмотров: 74 eurordis
EB Haus in Salzburg, Austria presented by Dr. Gabriela Pohla-Gubo
Testimony from a Healthcare Professional about access to care and treatments for Epidermolysis bullosa patients. Video from the European Symposium on Health Inequalities for Rare Disease Day 2011 in Brussels, Belgium. View the EB Online Patient Community created by DEBRA with the support of NORD & EURORDIS here: http://www.rarediseasecommunities.org/en/community/epidermolysis-bullosa
Просмотров: 681 eurordis
Dr. Beverly Searle - Unique (Rare Chromosome Disorder Support Group)
Dr. Beverly Searle was a participant in the 5th European Conference on Rare Diseases (ECRD) Krakow, Poland 2010. She is CEO of Unique a Rare Chromosome Disorder Support Group basedin the UK but present in 77 countries worldwide. http://www.rarechromo.org/
Просмотров: 1691 eurordis
RareConnect.org webinar:  The importance of annual screening in patients with VHL
Apr 21, 2018 - The webinar was meant for doctors and patients living with Von Hippel-Lindau. It is about the importance of annual screening, what has to be screened and possible consequences for the patient. Speakers: - Dr. Binderup is a post.doc researcher at the University of Copenhagen, Department of Cellular and Molecular Medicine, Medical Genetics program. *Webinar organised by RareConnect.org in collaboration with VHL Europe. **Find others with Von Hippel-Lindau on RareConnect, the online platform for people affected by rare diseases: https://www.rareconnect.org/en/community/von-hippel-lindau
Просмотров: 225 eurordis
Marianne talks about life with a limb difference
Marianne Durand is a member of ASSEDEA, the French organisation that helps people with limb deficiency. In this video, she talks about the work of ASSEDEA and what it was like growing up with a limb difference. Join the international limb difference community on RareConnect: http://www.rareconnect.org/en/community/dysnet
Просмотров: 1398 eurordis
Searching databases for rare disease information
Learn how to use some of the many online databases which may help you identifying relevant information
Просмотров: 251 eurordis
Results of EU-wide EUROBAROMETER Public Opinion survey on rare diseases
EURORDIS CEO Yann le Cam summarizes the results of an EU-wide (EUROBAROMETER) survey published on the 4th World Rare Disease Day, which reveal that Europeans have a relatively accurate understanding of what rare diseases are but detailed knowledge and awareness remain low.
Просмотров: 186 eurordis
Webinar on 2016 atypical HUS poll
Dr. Christoph Licht and Linda Burke present analysis of the 2016 aHUS survey results and give an update on atypical HUS and the activities of the aHUS Alliance. For more information visit: https://www.rareconnect.org/en/community/atypical-hemolytic-uremic-syn and http://ahusallianceaction.org
Просмотров: 329 eurordis
Webinar: European Year for Rare Diseases
Learn more about the principle objectives of the campaign for a European Year for Rare Diseases in 2019, its national and European value and how you can get involved. http://www.eurordis.org/eyrd2019
Просмотров: 486 eurordis
Avril Daly Welcome Message European Conference on Rare Disease 2012
Avril is the Chair of Rare Diseases Ireland (GRDO) http:www.grdo.ie/, and the CEO of Fighting Blindness, Ireland http://www.fightingblindness.ie/. For more on the conference organised by EURORDIS http://www.eurordis.org, visit: http://www.rare-diseases.eu
Просмотров: 289 eurordis
EURORDIS Webinar: ePAGs 24.10.2017
Просмотров: 34 eurordis
European Commission Action on Rare Diseases at European Conference on Rare Disease 2012
John Dalli is the EU Commissioner for Health and Consumer Policy http://ec.europa.eu/commission_2010-2014/dalli/index_en.htm For more on the conference organised by EURORDIS http://www.eurordis.org, visit: http://www.rare-diseases.eu
Просмотров: 159 eurordis
Trimethylaminuria (TMAU) Webinar 2
Join the international TMAU conversation: http://www.rareconnect.org/en/community/trimethylaminuria Professor Shephard and Phillips have a long interest in TMAU and FMO3 enzyme. They are based in London universities and their work and research is based around the 2 groups of enzymes ; the cytochrome P450 enzymes and the FMO enzymes. Since FMO3 is one of the FMO group of enzymes, they have a natural interest in TMAU and have written research papers on FMO3 and TMAU.
Просмотров: 1963 eurordis
Evaluating health information on the Internet.
Learn how to evaluate the quality of information sources online
Просмотров: 530 eurordis
UTE Wallentin - Osteogenesis Imperfecta (Brittle Bones)
Ute from Germany was a participant in the 5th European Conference on Rare Diseases (ECRD) Krakow, Poland 2010. She is a member of the patient group OIFE
Просмотров: 2230 eurordis
EURORDIS Genome Editing Webinar
The webinar was moderated by Dr Virginie Bros-Facer, EURORDIS Research Infrastructure Project Manager and included presentations from: - Professor Fulvio Mavilio, Scientific Director of Généthon, France, who talked about the science behind the therapeutic potentials for rare genetic diseases. - Dr Heidi Howard, biologist and bioethicist at Uppsala University, Sweden who focused on ethical, legal and social considerations relating to the use of genome editing in clinical application.
Просмотров: 161 eurordis