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Plan du site - Anesthésie & Maladies rares. The Challenge of Treating Orphan Disease. Yoni Maisel - CVID sur Twitter : "#Genomics IDs New #RareDisease, Ends Odyssey for 3 Aboriginal Siblings #BigData #genetics #DNA. Medical breakthrough. A FAMILY with three children who all have medical problems will no longer have to search for answers to their illness.

Medical breakthrough

Their rare genetic condition has been identified by a Kensington clinical geneticist after a decade of research. The American Journal of Medical Genetics and Gareth Baynam documented the first case of a family with a mutation in the MTOR gene – a gene that regulates how cells grow, divide and function. The gene fault was found in three children in the family, each of whom was born with medical problems that affected their ability to learn and the structure of their bodies. Dr Baynam said establishing the cause of such a rare condition meant the family could have some closure.

“It means they know the cause of the condition and they can stop looking,” he said. “When things go wrong, people look for reasons; they want certainty. “But after exhausting all tests available to us at the various times we saw the family, we could still not confirm a diagnosis,” Dr Baynam said. Rare in Common. Get involved, share your story. Dr Thierry Cardon sur Twitter : "The Human Phenotype Ontology: Semantic Unification of Common and #raredisease : GetSharedSiteSession?rc=3&redirect=

RareConnect sur Twitter : "TRAPS with additional possible mutation for #NOMID #RareDisease... Silke and the fever - Tumor Necrosis Factor Receptor-Associated Periodic Fever Syndrome (TRAPS) community. We are the parents of a beautiful child born on 2013 and since she was a child she has had a fever.

Silke and the fever - Tumor Necrosis Factor Receptor-Associated Periodic Fever Syndrome (TRAPS) community

Today, she is under treatment with etarnecept. Let's see what happens Written by Ezz_, published 5 days ago. This story is also published in the CAPS community. Our daughter was born two and a half years ago. The diagnosis was fever without source for the infection. When she was 9, the immunologists prescribed her prednisone. During this period, we ran several tests. Now she is 2 years and 4 months, 3 weeks now, the rheumatologist and the immunologist decided to start the treatment with etanercept, 1 dose each week it seemed all was going fine and that she had outbreaks each 15 days but one months after the last appeared the fever again...

We are waiting as well to know if it is possible to dismiss a possible mutation for CINCA/NOMID, into the genetic test at the beginning it was negative but they want to dismiss a possible mosaicism. Internalmedicine sur Twitter : "Inborn Errors of Metabolism: Advances in Diagnosis and Therapy (OpenAccess) #RareDisease. Inborn Errors of Metabolism:  Advances in Diagnosis and Therapy.

Actes-colloque-ETP-janvier2015.pdf. Urgences_Dermatomyosite-frPro221.pdf. Urgences_Arthriteidiopathiquejuvenilesystemique-frPro92-.pdf. Histiocytoselangheransienne-fr389.pdf. Efficacite_therapie_genique_crigler_najjar.pdf. Semaine Mondiale des DIP - IRIS. Teresa Herbert sur Twitter : ".@DanaFarber's @IreneGhobrial chats about using social media to reach patients w/rare diseases: via @SFGate"

Cell at CellPress sur Twitter : "Why shd one study rare #diseases? Thoughtful Essay on #progeria as an example, FREE @ GetSharedSiteSession?rc=2&redirect= Figure 1 HGPS: From Genetics to Symptoms HGPS is caused by a spontaneous point mutation in the LMNA gene, coding for the nuclear intermediate filament proteins lamin A and C.


The disease mutation activates an alternative pre-mRNA splice site in exon 11 that results in removal of 150 nt from the 3′ end of this exon and creates an internal deletion of 50 aa in the translated lamin A protein. The mutant protein (red), referred to as progerin, is permanently farnesylated as the 50 aa deletion includes an endoproteolytic cleavage site, which normally removes the farnesylated C terminus from the wild-type protein.

The farnesyl group is believed to facilitate the association of the protein to the nuclear membrane, resulting in its accumulation at the nuclear periphery. Figure 2 A Spectrum of Possible HGPS Therapies HGPS is amenable to a wide spectrum of cutting-edge therapeutic strategies. Behcet's Disease (Behcet's Syndrome) - Vasculitis UK. How is Behçet's usually pronounced and why?

Behcet's Disease (Behcet's Syndrome) - Vasculitis UK

Behçet's is usually pronounced as "Beh-CHETS" after Hulusi Behçet a Turkish Professor who spent many years promoting the clinical awareness of the condition. Internalmedicine sur Twitter : "Rhabdomyolysis: a genetic perspective (Open Access) #RareDisease... s13023-015-0264-3.pdf. Internalmedicine sur Twitter : "IL-17RC deficiency in patients with chronic mucocutaneous candidiasis #PID #RareDisease.

Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis. The Journal of Experimental + Author Affiliations + Author Notes ↵* J.

Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis

-L. Yoni Maisel - CVID sur Twitter : "The Beauty & #Science of #Genomics: #RareDisease From Undiagnosed to Diagnosis #BigData @TGen. Study finds likely genetic source of muscle weakness in six previously undiagnosed children. Apr 09, Genetics Scientists at the Translational Genomics Research Institute (TGen), using state-of-the-art genetic technology, have discovered the likely cause of a child's rare type of severe muscle weakness.

Study finds likely genetic source of muscle weakness in six previously undiagnosed children

The child was one of six cases in which TGen sequenced—or decoded—the genes of patients with Neuromuscular Disease (NMD) and was then able to identify the genetic source, or likely genetic source, of each child's symptoms, according to a study published April 8 in the journal Molecular Genetics & Genomic Medicine. "In all six cases of myopathy, or muscle weakness, these children had undergone extensive, expensive and invasive testing—often over many years—without a successful diagnosis, until they enrolled in our study," said Dr.

Lisa Baumbach-Reardon, an Associate Professor of TGen's Integrated Cancer Genomics Division and the study's senior author. "Our results demonstrate the diagnostic value of a comprehensive approach to genetic sequencing," said Dr. Splicing modulation therapy in the treatment of genetic diseases. 2015-RASsymp-SaveDate-family-0708141. European Malignant Hyperthermia Group: Meeting programme. Tolerance and efficacy of off-label anti-interleukin-1 treatments in France: a nationwide survey. Going beyond the liver: Progress and challenges of targeted delivery of siRNA therapeutics. <div class="msgBox" style="margin-top:10px;"><span class="errMsg"><div>JavaScript is disabled on your browser.

Going beyond the liver: Progress and challenges of targeted delivery of siRNA therapeutics

Please enable JavaScript to use all the features on this page. This page uses JavaScript to progressively load the article content as a user scrolls. Click the View full text link to bypass dynamically loaded article content. Catch-Up Growth During Tocilizumab Therapy for Systemic Juvenile Idiopathic Arthritis: Results From a Phase III Trial. Guide Etp Maladies Rares. Acute rhabdomyolysis and inflammation. Behcet's syndrome community map - Behçet’s Syndrome community. The map is so important to understanding the spread and reach of Behcet's disease and why it is so very important for future researchers to know in which Countries and Cities patients live and where the disease is most prevalent.

Behcet's syndrome community map - Behçet’s Syndrome community

You can add your details to the map, anonymously. Your email will never be shared with anyone. This is a nonprofit community and no personal information is shared with 3rd parties. After successfully adding your details, you will see a link to view the map. It will take 24 hours for your pin to be appear on the map. Written by Behcet's International, published 9 months ago. Thanks for submitting your information in the form.

*View the map* Questions or problem submitting your information to be added to the map? Internalmedicine sur Twitter : "#Veille bibliographique hebdomadaire #MedecineInterne (Week08) : #Rheumatology #raredisease. Semaine 08. Semaine 08.

Semaine 08

Dr Thierry Cardon sur Twitter : "Classification of osteopetrotic conditions #RareDisease #osteopetrosis via. 1750-1172-4-5. #RareDiseaseDay. Molecular, Phenotypic Aspects and Therapeutic Horizons of Rare Genetic Bone Disorders. Guide for Applicants - European Patients Academy on Therapeutic Innovation. Introduction This webpage is designed to inform and direct potential applicants for the EUPATI Training Course for Patient Experts in Medicines Research & Development.

Guide for Applicants - European Patients Academy on Therapeutic Innovation

Here you will find information about the Course contents and requirements, the application process, selection criteria and the important dates and deadlines for the EUPATI Course. Detailed information on the Course can be found in the Guide for Applicants, which will assist applicants in preparing the documents for completing the application form. We strongly urge all applicants to read the Guide before filling out and submitting the application package. Should you have any further questions on the application process, please contact us at: Download the Guide for Applicants as a PDF file by clicking here.

Dr Thierry Cardon sur Twitter : "@Primary_Immune1 @PersonalizedMed @Larhumato family history very important for #raredisease and #Undiagnosed. Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment. + Author Affiliations Correspondence to: Prof Dr Wim Van Hul Department of Medical Genetics, University of Antwerp, Campus Drie Eiken (T6), Universiteitsplein 1, 2610 Antwerp, Belgium; Received 1 April 2005 Accepted 30 April 2005 Revised 29 April 2005 Published Online First 13 May 2005 Abstract Camurati-Engelmann disease (CED) is a rare autosomal dominant type of bone dysplasia. This review is based on the unpublished and detailed clinical, radiological, and molecular findings in 14 CED families, comprising 41 patients, combined with data from 10 other previously reported CED families. For all 100 cases, molecular evidence for CED was available, as a mutation was detected in TGFB1, the gene encoding transforming growth factor (TGF) β1.

Dr Thierry Cardon sur Twitter : "I'll give you an answer within the hour. #RareDisease... Dr. Muin Khoury sur Twitter : "Clinical Benefits of Genome Sequencing for Undiagnosed Diseases @scrippsresearch #RareDisease. A genome sequencing program for novel undiagnosed diseases : Genetics in Medicine. Recruitment and screening The IDIOM study (IRB-11–5723) was approved by the Scripps Institutional Review Board in 2011. Separate informed-consent forms were prepared for genome sequencing and treatment-response monitoring. Recruitment for IDIOM was done through announcements to physicians within the Scripps Health system and advocacy groups, announcements via local media,10,11 and word of mouth. Several online sources were utilized, such as (funded by the Clinical and Translational Science Award program and hosted by Vanderbilt University), and we contacted leaders of the Undiagnosed Diseases Program, the RARE Project, and the National Organization for Rare Diseases.

Scripps Health hosts a landing page for the IDIOM study that includes study criteria and coordinator contact information. To be considered, a patient (or his or her referring physician) provides a short clinical summary and all available medical records. Fibrous Dysplasia/McCune-Albright Syndrome - GeneReviews® - NCBI Bookshelf. Rare Disease Cohorts. Rare diseases and precision medicine on film : A view From the Bridge. Posted on behalf of Brendan Maher Bea Rienhoff with US President Barack Obama. Hugh Rienhoff When US President Barack Obama introduced his $215 million precision medicine initiative early this month, he showcased his politician’s penchant for sharing the inspiring personal stories of extraordinary citizens. One story that might be familiar to Nature readers was that of Hugh Rienhoff and his daughter Beatrice. Now two documentary film makers, Allen Moore and Kori Feener, are raising funds via Kickstarter to tell Bea’s story — of “a violin-playing, theatre-performing tomboy with a disease so rare, no one else in the world has it” (see below).

The funding drive finishes, fittingly, on International Rare Disease Day — 28 February. Hugh, a trained clinical geneticist, embarked on a quest to identify the genetic cause of a puzzling array of symptoms affecting Bea, such as fingers and toes that won’t uncurl all the way and an inability to put on much muscle mass. Sharing the insights. SANOFI : et Genzyme annoncent des résultats "encourageants" pour un traitement contre la maladie de Gaucher. Sanofi et sa filiale Genzyme annoncent aujourd'hui la publication des résultats "encourageants" d'ENGAGE, l'étude d'enregistrement de Cerdelga (eliglustat) menée auprès de patients naïfs de traitement atteints de la maladie de Gaucher de type 1. « Ces résultats révèlent qu'il s'agit d'une option thérapeutique orale sûre et efficace pour les patients atteints de la maladie de Gaucher », a indiqué le Docteur Pramod Mistry, Ph.D., FRCP, Professeur de pédiatrie et de médecine interne à la Faculté de médecine de l'Université Yale et auteur principal de cette étude.

Genzyme a développé Cerdelga, la première petite molécule administrée par voie orale indiquée en première ligne, pour offrir une nouvelle option thérapeutique aux personnes atteintes de la maladie de Gaucher de type 1 et élargir l'éventail des traitements disponibles pour cette maladie génétique rare. Nature News&Comment sur Twitter : "Behind the scenes of the world's first commercial stem-cell therapy. Yoni Maisel - CVID sur Twitter : "Computing Faster Cures: 1) 2) #RareDisease #BigData #cancer #biotech. Artificially-intelligent Robot Scientist ‘Eve’ could boost search for new drugs. Robot scientists are a natural extension of the trend of increased involvement of automation in science.

They can automatically develop and test hypotheses to explain observations, run experiments using laboratory robotics, interpret the results to amend their hypotheses, and then repeat the cycle, automating high-throughput hypothesis-led research. Robot scientists are also well suited to recording scientific knowledge: as the experiments are conceived and executed automatically by computer, it is possible to completely capture and digitally curate all aspects of the scientific process. In 2009, Adam, a robot scientist developed by researchers at the Universities of Aberystwyth and Cambridge, became the first machine to independently discover new scientific knowledge. The same team has now developed Eve, based at the University of Manchester, whose purpose is to speed up the drug discovery process and make it more economical. How Google's using big data and machine-learning to aid drug discovery.

Gaming execs:Join 180 select leaders from King, Glu, Rovio, Unity, Facebook, and more to plan your path to global domination in 2015. RareConnect sur Twitter : "Autoinflammatory vs Autoinmune: what's the difference? +info: via @AAlliance_SAID #raredisease. Autoinflammatory vs. Autoimmune: What is the Difference? The periodic fever syndromes fall into the autoinflammatory disease category. These conditions include familial Mediterranean fever (FMF), cryopyrin associated periodic syndrome (CAPS), hyperimmunoglobulinemia D syndrome (HIDS), TNF receptor-associated periodic syndrome (TRAPS), and several other chronic diseases that have recurring fevers and inflammation as the main symptoms. As researchers learn more about these conditions, more diseases that were once thought to be autoimmune are now being considered autoinflammatory. Recent research has placed some diseases that were previously known as autoimmune diseases, such as systemic-onset juvenile idiopathic arthritis (SJIA, also known as soJIA), Sweet’s syndrome, and Behçet’s disease, into the autoinflammatory category or as having autoinflammatory components.

But what’s the difference between autoimmune diseases and autoinflammatory diseases? And does it matter? The Acquired Immune System and the Innate Immune System. C'est quoi une personne rare ? Dr Thierry Cardon on Twitter: "@maladierareinfo new hashtag for #RareDiseaseDay2015 : #rdfdisease Rare diseases which can help in the understanding of frequent diseases" Orphanet sur Twitter : "#RareDiseaseDay2015 nouvelle application Orphanet : Orpha Guides, dédiée à l'info sur la prise en charge des MR. #rdfdisease. Yoni Maisel - CVID sur Twitter : "Positive Advancements Going Into #RareDiseaseDay2015.