учени – -Translation – Keybot Dictionary

  Автобиография на д-р Ру...  

Show textShow cached sourceOpen source URL	• Задълбочени професионални контакти и колаборация с медицински изследователи и учени от България, Европа и САЩ
Compare text pagesCompare HTM pagesOpen source URLOpen target URLDefine raredis.org as primary domain	• Firm professional contacts and collaboration with medical researchers and scientist from Bulgaria, the Balkan countries, Europe and USA

  Уилямс Синдром Асоциаци...  

Show textShow cached sourceOpen source URL	Създава международни контакти за съвместни разработки, за работа и специализация на български учени в чужбина за лечение на пациенти, страдащи от Синдром на Уилямс-Бойрен
Compare text pagesCompare HTM pagesOpen source URLOpen target URLDefine raredis.org as primary domain	Creates international contacts for collaborative developments, for the work and specialization of Bulgarian scholars abroad for the treatment of patients suffering from Williams-Boiren Syndrome

  2-ра международна конфе...  

Show textShow cached sourceOpen source URL	След успеха на предишната през 2012 г. във Виена, за втори по ред път срещата ще събере водещи учени от цял ​​свят, постави акцент върху това как основни познания в областта на редките болести могат да окажат влияние за развитието на нови терапевтични стратегии.
Compare text pagesCompare HTM pagesOpen source URLOpen target URLDefine raredis.org as primary domain	For the second time, the meeting will bring together high-profile scientists from around the world and will focus on how basic science on rare diseases can have an impact for the development of novel therapeutic strategies. For more information, please visit the official website of the event.

  Автобиография на д-р Ру...  

Show textShow cached sourceOpen source URL	• Научно-изследователска работа в голям международен институт в чужбина, заедно в екип с учени от Европа, САЩ, Япония, Латинска Америка и др.
Compare text pagesCompare HTM pagesOpen source URLOpen target URLDefine raredis.org as primary domain	• Working and doing research for 2 years abroad in an International Institute with many visiting collaborators from Europe, USA, Japan, Latin America etc.

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През 1981г. група учени установява, че при по-голямата част от пациентите с този синдром липсва определен сегмент от 15 хромозома. Това откритие дава възможност днес за точна диагноза на синдрома на Прадер-Вили.

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Prader-Willi syndrome has no cure. However, several treatments are in place to lessen the condition’s symptoms. During infancy, subjects should undergo therapies to improve muscle tone. Speech and occupational therapy are also indicated. During the school years, children benefit from a highly structured learning environment as well as extra help. Throughout their lives, the subject’s food should literally be kept under lock and key, since the largest problem associated with the syndrome is severe obesity.

  Orphanet Списание за Ре...  

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Осигурявайки тази информация, която е решаваща за точното диагностициране и мениджмънт, Orphanet Journal of Rare Diseases цели да допринесе за подобряване обслужването на пациентите, засегнати от рядка болест. Списанието предоставя на учени и клиницисти възможността да публикуват последни новости от областта на редките болести и лекарства-сираци.

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The Orphanet Journal of Rare Diseases is available now. It is an online journal that encompasses all aspects of rare diseases and orphan drugs. The journal welcomes high quality review articles encompassing all aspects of diagnosis, clinical description, epidemiology, and genetic counselling of rare diseases. It brings together knowledge of basic research and clinical practice. By providing this information, crucial for optimised diagnosis and management, the Orphanet Journal of Rare Diseases aims to contribute to the improved care of patients affected by rare diseases. The journal provides researchers and clinicians with the opportunity to publish state of the art developments in the area of rare diseases and orphan drugs. The web site of the journal is www.jord.com.

  Дейността на ERDITI - И...  

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ERDITI дава възможност на европейски академични учени, имащи разработен проект в областта на редките болести, да кандидатстват и получат достъп до база данни от медикаментозни елементи, разработени от фармацевтични компании.

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ERDITI (The European Rare Disease Therapeutic Initiative) is an innovative partnership between European academic institutions and pharmaceutical companies, established to develop drugs for the treatment of rare diseases and to facilitate the evaluation of compounds that have been or are being developed by pharmaceutical companies. The 3 main goals of ERDITI are : a) to give academic teams an access to a large variety of compounds; b) to provide a collaboration streamlined facilitated process between academic teams and Pharma Partner to develop drugs for rare diseases; c) to guarantee the continuity all the way from research to development and commercialisation of the drug. There is an opened procedure for applying for compounds. It is intended for European academic scientists holding project on a rare disease, or a defined group of rare diseases, who would like access to compounds that have been or are being developed by pharmaceutical companies. A scientific advisory board will assess the suitability of the request. More information about how to apply for compounds can be found here. An interesting article, published recently in PLoS Medicine, about ERDITI can be downloaded here.

  Регулаторна система за ...  

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Това води до значителни различия в съдържанието на закона, който регламентира използването на ДНК проби, защитата на личните данни и медицинските регистри в отделните европейски държави. Липсата на стандартизирани правила затруднява кооперирането на учени от цяла Европа, но също така ограничава размяната на ДНК проби и информация извън очертанията на националните граници.

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(doi:10.1038/sj.ejhg.5201530). Author comments, that within Europe, there is currently no uniform regulatory system that applies to human biobanks used for genetic research purposes. This has resulted in considerable variation in the national law that applies to the use of DNA samples, personal information and medical records in the countries across Europe. There are also concerns that the lack of standardised guidelines inhibits cooperation among researchers across Europe but also restricts the sharing of DNA samples and information across national borders. Ultimately, the lack of a uniform regulatory system may have implications for the viability and long-term competitiveness of collaborative European research. Source: EJHG

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Основната цел на този тридневен симпозиум е да събере пациенти с редки невроимунологични нарушения, професионалисти предоставящи лечение и здравни грижи, както и клинични учени, специалисти в проучванията на тези нарушения.

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. It is organized by the Johns Hopkins University School of Medicine and the Transverse Myelitis Association. The primary goal of this three and half day symposium is to bring together patients with rare neuroimmunologic disorders, professionals who provide medical treatment and care to this population, and basic and clinical scientists who specialize in research on these disorders. In addition, the goal of the course is to educate patients and their caregivers on the management of these rare disorders. More information you can find by clicking here.

  Обучителен семинар по с...  

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Обучителният семинар ще се проведе в европейската лекарствена агенция в Лондон на 11 ноември 2016 г. Събитието ще обедини ключови заинтересовани страни – пациенти, лекари, представители на индустрията, учени и регулатори – за да разгледат най-новите научни разработки в областта и да обсъдят начини за развитие на терапиите за лечението на спиналната мускулна атрофия.

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The European Medicines Agency (EMA), SMA Europe and the TREAT-NMD network are holding a one-day workshop to discuss, support and advance the development of therapies for the treatment of spinal muscular atrophy (SMA). The workshop will be held at EMA’s premises in London on 11 November 2016. The workshop will convene key stakeholders – patients, doctors, industry representatives, researchers and regulators – to take stock of the latest scientific developments in the area and discuss ways of developing therapies for the treatment of SMA. Topics for discussion will include an overview of the disease, the pharmacology of the molecules under investigation, natural history data, clinical outcome measures and potential use of biomarkers in drug development. For more information please click here.

  Финансиране на клинични...  

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Националният институт по здравеопазване (NIH) в САЩ ще финансира изследователски консорциуми, за да изучат повече от 200 редки заболявания. Учени-медици от 22 консорциума ще си сътрудничат с представители на 98 пациентски организации, за да бъдат инициирани клинични проучвания на нови медикаменти за лечение на редки заболявания.

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NIH funds research consortia to study more than 200 rare diseases. Physician scientists at 22 consortia will collaborate with representatives of 98 patient advocacy groups to advance clinical research and investigate new treatments for patients with rare diseases. The collaborations are made possible through awards by the National Institutes of Health — totaling about $29 million in fiscal year 2014 funding — to expand the Rare Diseases Clinical Research Network (RDCRN), which is led by NIH’s National Center for Advancing Translational Sciences (NCATS). For more information, please visit the website of NIH.

  Уеличаване възможностит...  

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Учени и лекари ще работят в близка координация с оглед на изпробване и прилагане на нови открития при тези наследствени нарушения, за да разработят нови начини при грижите за пациенти с мускулна дистрофия тип Дюшен и спинална мускулна атрофия (SMA).

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TREAT-NMD: accelerating treatments for neuromuscular diseases. TREAT-NMD is a European Union funded Network of Excellence launched on 1 January 2007 with the express aim of accelerating the process of bringing treatments to patients with neuromuscular diseases. The co-ordination centre is based in the Institute of Human Genetics in Newcastle upon Tyne in the UK. The network brings together 21 partner organisations, including doctors, researchers, charities and private companies, based throughout 11 European countries. Neuromuscular disorders affect around 300,000 people in Europe. TREAT-NMD will encourage experts in this field to work together to share good practice and to improve global standards of care. Scientists will work closely with doctors to test and apply new research into these inherited disorders, in order to develop new ways of looking after patients with conditions like Duchenne Muscular Dystrophy (DMD) and Spinal Muscular Atrophy (SMA). Close links with drug companies will also be further developed to advance potential treatments and cures. Patients and patient charities will be involved at all levels of the project, which will also include a programme of training and education.

  Консорциум за научни из...  

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Инициативата обединява учени и организации, инвестиращи в тази сфера, и си е поставила амбициозната задача да създаде 200 нови терапии, както и диагностични средства за повечето редки болести до 2020 г. IRDiRC е управляван от изпълнителен комитет, 3 научни комитета и специализирани работни групи.

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The International Rare Diseases Research Consortium (IRDiRC) is a joint initiative of the European Commission and the US National Institutes of Health, launched in April 2011. IRDiRC aims to foster international collaboration in rare diseases research. It teams up researchers and organisations investing in rare diseases research in order to achieve two main objectives, namely to deliver 200 new therapies for rare diseases and means to diagnose most rare diseases by the year 2020. IRDiRC will be governed by an Executive Committee, three Scientific Committees and a number of working groups. On 29 February 2012, Rare Disease Day, 31 class-leading experts were appointed as members of the Scientific Committees to help guide IRDiRC future research efforts. For further information, please visit IRDiRC homepage.

  Редките болести във фок...  

Show textShow cached sourceOpen source URL	ДТ: Трябва да помним, че ползата за пациентите и техните семейства е основното ядро на инициативите и усилията, правени от институции, пациентски организации, учени, индустрия и други, както на равнище ЕС, така и на национално ниво.
Compare text pagesCompare HTM pagesOpen source URLOpen target URLDefine raredis.org as primary domain	DT: We should always keep in mind that the benefit of patients and their families are the central core of initiatives and efforts made by Institutions, patient organizations, scientists, industries, etc. at EU and national level. Transparency, especially regarding funding, among different players should be ensured.

  Награда за цялостен при...  

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През 2014 г. Информационен център за редки болести и лекарства сираци (ИЦРБЛС) чества своя 10-ти юбилей като уважи и награди изтъкнати пациенти, лекари, учени, журналисти и политици, спомогнали и допринесли за напредъка в областта на цялостните грижи и подход към хората с редки болести в България.

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In 2014 Information Centre for Rare Diseases and Orphan Drugs (ICRDOD) celebrates its 10th anniversary respect and honors distinguished patients, doctors, scientists, journalists and politicians who have helped and contributed to progress in the overall care and approach to people with rare diseases in Bulgaria. ICRDOD is the first of its kind in Eastern Europe free educational and information service for rare diseases in support of patients and medical professionals. The awards will be officially presented at a special gala dinner on September 26, 2014 (Friday) during the 5th National Conference on Rare Diseases and Orphan Drugs. For more information, please visit the official website of the event.

  Kръгла маса за мускулна...  

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Темата на събитието е „Контролиране мускулния растеж – терапевтично решение при мускулна дистрофия тип Дюшен? . Осемнадесет учени от шест държави са представили резултати от изследвания за различни лечебни методи за поддържане на мускулната маса при пациенти с МДД.

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The 4th Monaco round table conference on Duchenne muscular dystrophy (DMD) took place in Monaco on 15 January 2005. The theme was “Regulation of muscle growth, a therapeutic issue for Duchenne muscular dystrophy?”. Eighteen scientists from six countries presented and discussed their research results on different approaches to maintain muscle mass and function of Duchenne boys. Eleven representatives of parents’ associations from eight countries were also present. To access the full text of the report, pleace, click here.

  Конференция по Генетикa...  

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Организатор е European Society of Human Genetics (ESHG). На конференцията ще се обсъждат последните открития в областта на човешката генетика и геномика, които представляват интерес както за клиницисти, така и за учени-изследователи.

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The 38th European Human Genetics Conference will be held in RAI Congress Center, Amsterdam, The Netherlands, from 6 to 9 May 2006. It is organized by the European Society of Human Genetics (ESHG). The conferences will cover the latest developments in the fields of human genetics and genomics that are of interest both for clinicians and research scientists. An annual conference of the European Genetic Alliances’ Network (EGAN) will be held on Sunday 7th May and Monday 8th May 2006 as a satellite meeting. More information can be found here.

  Задълбочени изследвания...  

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Като се ангажират ефективно с онлайн и социални медии, учени и клиницисти могат да получат безпрецедентен достъп до относително големи групи от хора с редки болести, както и техните роднини, настойници и професионалисти, участващи в тяхното здравно обслужване.

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The internet, and social media platforms, are increasingly being used by substantial sectors of the worldwide population. By engaging effectively with online and social media, scientists and clinicians can obtain unprecedented access to relatively large cohorts of individuals with rare diseases, as well as their relatives, carers and professionals involved in their healthcare. For the full article please click here.

  Редки бъбречни заболява...  

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Изследователският интерес на македонските клиницисти и учени е съсредоточен върху генетиката на вродените аномалии на бъбреците и пикочните пътища, нефротичния синдром, устойчив на стероиди, нефролитиаза и нефрокалциноза и циститните заболявани.

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Rare renal diseases are an important category of rare diseases, as they can cause great harm to patients, families and society. The research interest of Macedonian clinicians and scientists focuses on the genetics of congenital abnormalities of the kidneys and urinary tract, nephrotic syndrome, steroid resistant, nephrolithiasis and nephrocalcinosis and cystic diseases. Research is carried out in collaboration with well-known laboratories in the United States and Europe. This collaboration leads to the discovery of new genes and pathophysiological pathways, published in The New England Journal of Medicine and other well-known journals. Unfortunately, lack of funding is a major obstacle to an early and appropriate diagnosis. More information about research and expected results can be found here.

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Тази среща дава възможност на делегатите да чуят доклади с последни новости от областта на научните открития, да обсъждат тяхното включване и използване в практиката. Работната среща е място, където учени и професионалисти от международен мащаб могат да се учат един от друг и на която могат да присъстват представители на пациентски организации.

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The 7th International Workshop of the European Working Group on Gaucher Disease (E.W.G.G.D) will take place in St. John’s College, Cambridge, UK on 18th – 22nd July 2006. The workshop provides an opportunity for delegates to hear up-to-date reports on scientific discoveries, and to discuss their implications in relation to current practice. The meeting provides an opportunity for International Scientists and Medical professionals to learn from each other, and for patient representatives fully to participate. The workshop is being hosted by the team in the Department of Medicine of the University of Cambridge and Addenbrooke’s Hospital. For more information click here.

  Роля на дендритните кле...  

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Учени от Mayo Clinic и University of Pittsburgh са провели проучване върху клетъчните процеси при юношески дерматомиозит. Изследователите открили специализирани клетки на имунната система, нар. дендритни клетки, в мускулната тъкан на деца с юношески дерматомиозит, което предполага, че тези клетки участват в болестния процес.

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A team of researchers from the Mayo Clinic and University of Pittsburgh have been studying the cellular processes involved in juvenile dermatomyositis. The researchers found specialized immune system cells, called dendritic cells, inside the muscle tissue of children with juvenile dermatomyositis, which suggests these cells are involved in the disease process. The finding opens new possibilities for better treatments for the disease. Their research was presented at the

  Подкрепа от CEE GN - Ин...  

Show textShow cached sourceOpen source URL	ИЦРБЛС получи писмо-подкрепа от Централна и Източно Европейска Генетична Мрежа (CEE GN) – коалиция на пациенти, групи за семейна помощ и отделни личности, работещи заедно с учени и представители на индустрията, за да подкрепят хората с чести и редки генетични и вродени състояния, както и техните семейства от страните на Централна и Източна Европа.
Compare text pagesCompare HTM pagesOpen source URLOpen target URLDefine raredis.org as primary domain	The ICRDOD received a letter support from the Central and Eastern European Genetic Network (CEE GN) – a coalition of patients, family support groups and individuals, working together with scientists and industry to support people with common and rare genetic and congenital conditions and their families in countries of Central and Eastern Europe. The full text of the letter can be read here.

  Българо-японски симпози...  

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Форумът ще събере на едно място хора от различни научни и медицински среди с цел интердисциплинарен диалог по ключови въпроси в геномиката и протеомиката. Изтъкнати български и международни учени ще представят най-новите си изследвания в областта на геномиката, генетиката на човешките патогени, протеомиката и фармакогеномиката.

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The Bulgarian-Japanese Symposium will present and explore the topic “Genomics and Proteomics in Personalized Medicine” on 19–20 March 2009 at Tokuda Hospital, Sofia, Bulgaria. The Bulgarian-Japanese Symposium will bring together people from different scientific and medical backgrounds to provide an open forum for interdisciplinary dialogue on key issues in genomics and proteomics. Prominent international and Bulgarian scientists will present recent advances on the following topics: “Genomics of common disorders”, “Genetics of human pathogens”, “Proteomics”, “Pharmacogenomics and personalized medicine”. For more information visit the official site of the event.

  Трета Международна Науч...  

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От първата конференция през 2011 г. е направен значителен напредък в изучаването на редките болести. Изследователи, законодатели, млади учени и индустрията, които са активни в областта на редките болести от целия свят за поканени да участват.

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The 3rd conference of the International Rare Diseases Research Consortium (IRDiRC) will be held in Paris, France on the 8th and 9th of February 2017. Since the first conference in 2011, considerable advances have been made in rare diseases research globally. All stakeholders – investigators, policy makers, young researchers and industry – are invited to participate. For more information please follow this link.

  Годишна Асамблея на Евр...  

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Участници от цяла Европа са поканени да участват не само в годишната Асамблея, но и в предварителната двудневна работна среща за всички пациенти и техните близки, лични асистенти, лекари, участници в регулационни процеси и учени.

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under the patronage of his Excellency, Commissioner Markos Kyprianou (enquired). Participants from all over Europe are invited not only to the Annual Assembly, but also to the pre- Meeting, a two days workshop for all patients, physicians and caregivers, regulators and scientists. The European Haemophilia Consortium (EHC) will be an officially recognised European umbrella organisation of 44 Haemophilia Associations at this time, situated in Brussels, since the new statutes were approved in Sofia in September 2006. For detailed information click here.

  Значение на водните кле...  

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Откритието беше направено в рамките на програма за проучване на хидроелектролитните нарушения при деца с епилепсия. Същата група учени установи същия феномен и при пациенти с мускулна дистрофия Дюшен.

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PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Priorities in the discovery of the implications of water channels in epilepsy and duchenne muscular dystrophy ( Cell Mol Biol (Noisy-le-grand). 2006 Oct 30;52(7):46-50.). Author is Benga I from the Department of Pediatric Neurology, Iuliu Hatieganu University of Medicine and Pharmacy Cluj-Napoca, Romania. In 1977 Benga and Morariu reported a decreased water permeability of red blood cells in children with idiopathic epilepsy (cases selected by Ileana Benga). This investigation was performed as part of a program of research of hydroelectrolytic alterations in child epilepsy. On the other hand the group of Gheorghe Benga has reported a decreased water permeability of RBC in patients with Duchenne muscular dystrophy. These findings were interpreted as an expression of generalized membrane defects affecting water permeability in epilepsy and Duchenne muscular dystrophy. In recent years this idea was confirmed by reports indicating aquaporin abnormalities in the brain of epileptic patients and in the muscle of Duchenne muscular dystrophy patients. To access the full abstract of the article, click here.