28 February 2014 print
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Irdirc
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Editorial
 
Rare Disease Day celebrates 7 years of success today
 
It is now 7 years since the celebrations of Rare Disease Day was started. Rare disease day has been an iconic celebration of our appreciation for rare disease patients and stakeholders for their efforts. Today the celebrations have reached its pinnacle in the 7 years with record number of countries from all over the world participating in the celebrations. Seventy-three countries participated in the 2013 Rare Disease Day event, with more entries this year. Many have contributed to the “show of hands” ritual which stakeholders have contributed to in all these years. This years’ slogan - Join Together For Better Care - urges us to explore how we can assist to gain better care for the patients, be it in obtaining access to medications, or access to expert services or access to social services.

This year’s official video (above) for Rare Disease Day, which is now available in seven different languages, is superbly presented and inspiring in its message. This video, already popular with more than 17,000 views and more than 200 likes on YouTube, was created in Barcelona by the production company These Glory Days, accompanied by the music of Delorentos, who generously offered the use of their appropriately named song "Care For".

This year Eurordis has also announced a Rare Disease Day ambassador, Sean Hepburn Ferrer, the son of Audrey Hepburn -who struggled with a rare cancer- but whose philanthropic efforts have inspired Sean Hepburn Ferrer as well. He promises to stand with rare disease patients in solidarity in their fight to get better care for patients all around the world. EURORDIS is also organising a Policy Event in Brussels that deals with Improving Access to Rare Disease Care: The Vision of Patients.

 


 
EUCERD update
 
New European Commission Expert Group on Rare Diseases starts up where the EUCERD left off
 

The first meeting of the EC Expert Group on Rare Diseases was held in Luxembourg on 11-12 February 2014. This group will take over the tasks of the former European Union Committee of Experts on Rare Diseases (EUCERD www.eucerd.eu) in order to aid the European Commission with the implementation of the Commission Communication (Read the Commission Communication) and Council Recommendation in the field of rare diseases (Read the Council Recommendation).

The expert group, which is chaired by the European Commission, was welcomed to their first meeting by Acting Director of Health for the EC's DG Sanco, Mr John Ryan. Mr Ryan thanked for former members of the EUCERD, and it particular it's Chair, Ségolène Aymé, for the impressive work and dedication of the Committee over the years 2010-2013. The official list of members of the new Expert Group, which includes representatives from Member States, learned societies, patient organisations and producers as well as experts in the field, will soon be available online: over half of the members of this new group previously served as members of the EUCERD which will help ensure continuity between the two mandates.

The first meeting of the newly formed group was a chance to take stock of the achievements to date at both European and national level, starting with a presentation of the achievements of the former EUCERD. In terms of the actions financed at European level, members were given presentations on the implementation of the two Joint Actions in the field of rare diseases, the Orphanet Europe Joint Action and the EUCERD Joint Action. Each Member State reported on the progress made to date at national level to elaborate and/or implement their national plans/strategies for rare diseases as encouraged by the Council Recommendation on an action in the field of rare diseases (2009), with the economic context highlighted by many as a hindrance to implementation. The Expert Group also received updates from the EC concerning possibilities for a European Research Infrastructure for rare diseases, the plans for a European platform for rare diseases registration, the implementation of the Cross-Border Healthcare Directive as concerns plans for European Reference Networks, and possibilities within the Health Programme and Horizon 2020 for rare diseases. An update on the activities of the International Rare Disease Research Consortium and on plans for Rare Disease Day 2014 and the European Conference on Rare Diseases and Orphan Products (8-10 May, Berlin) were also presented.


 


 
Irdirc
 
Rare Genetic Diseases: Diagnosis and Discovery Workshop
 
On December 3, 2013, a workshop called “Rare genetic diseases: diagnosis and discovery workshop” took place in Prague, Czech Republic. It was organized by the Diagnostics Scientific Committee of the IRDiRC (International Rare Diseases Research Consortium), chaired by Kym Boycott (University of Ottawa and Children's Hospital of Eastern Ontario Research Institute) and Milan Macek (Charles University Prague and University Hospital Motol), and hosted by Milan Macek. This workshop aimed to create partnership opportunities between Central/Eastern Europe, the Middle East and Canada in the rare disease field. During the meeting, different infrastructures were introduced such as the IRDiRC, CARE4RARE, or GEUVADIS, and Central/Eastern Europe as well as Middle Eastern partners presented short summaries of their activities. Mechanisms to enable international data sharing were also discussed during the day, with the examples of Cafe Variome, PhenoTips or Phenome Central.
Read the report
 


 
EU Policy News
 
EMA
 
EMA reports a boost in the number of positive recommendations for orphan medicinal products in 2013
 
In 2013, the European Medicines Agency’s (EMA) Committee for Medicinal Products for Human Use (CHMP) recommended 81 medicines for human use for marketing authorisation, compared to 57 in 2012. The report highlights the upward trend in the number of recommendations for marketing approval of orphan medicinal products. These products, intended for the treatment of rare diseases, have shown a steady increase in CHMP recommendations after the drop observed in 2010 and 2011 (only 4 products recommended). The recommendations in 2012 and 2013 (8 and 11) are much more promising as they surpass the approval numbers in 2009 (7 recommendations). According to the EMA, this represents the success of the orphan drug regulation that was introduced in 2000.
Read the report

 


 
National & International Policy Developments
 
Belgium's parliament votes through child euthanasia
 
In a historic move, the Belgian parliament has recently passed a bill that allows terminally ill children to request euthanasia where it has been legal for adults for the past 12 years. Belgiums neighbour, the Netherlands, has legalised euthanasia for children over the age of 12 years with parental consent, but Belgium will be the first country in the world to remove any age limit on the practice. According to the bill, euthanasia may be requested by terminally ill children (of any age) who are in great pain and also have parental consent. The law states a child would have to be terminally ill, face "unbearable physical suffering" and make repeated requests to die – before euthanasia is considered. Additionlly, parents, doctors and psychiatrists would have to agree before a decision is made. Opponents argue children cannot make such a difficult decision.Supporters of the legislation argue that in practice the law will affect an extremely small number of children, who would probably be in their teens.
Read the legislation

 
Other European news
 
Policy challenges of clinical genome sequencing
 
In December 2012, the prime minister of UK unveiled plans to sequence the genomes of 100 000 NHS patients over the next three to five years and the Department of Health decided to set up Genomics England to help deliver the 100K Genome Project into mainstream healthcare in the NHS in June 2013. Although these two key announcements have the potential to change the scenery of genome sequencing for clinical purposes in the UK, several questions about the consequences of these policies have been broached. In an opinion segment published in BMJ, Caroline Wright and colleagues illustrate how policy makers around the world are currently grappling with how to guide the implementation of genome sequencing in the clinic. The authors emphasise the need for "clear testing policy to be agreed that covers issues such as whom to test and how to store, protect, and share genomic data appropriately".

The authors contend that sequencing genomes is the road ahead as testing individual genes sequentially is slow, expensive, labour intensive, and often ultimately unsuccessful while the diagnostic power of genome sequencing, coupled with our increasing understanding of the genetic aetiology of numerous disorders, seems to offer new opportunities to prevent, diagnose, and manage diseases. The authors also stress the importance of clinical genome sequencing efforts to be initially focused on delivering diagnoses for patients rather than premature opportunistic screening. The authors ask for addressing questions that may arise due to genome sequencing such as how to handle data overload and how we should handle incidental findings. The authors also believe that several ethical questions will be raised on how to handle widening the public knowledge for sequencing genomes and it should be addressed. Questions on how to balance the need for data sharing for the common good with the importance of respecting an individual’s right to personal privacy and confidentiality need to be tackled.
Consult the abstract

 
Other International News
 
China launches a pilot project to improve its rare disease healthcare levels
 
Earlier in 2013, China announced the launch of a China Rare Diseases Prevention and Treatment Alliance on Rare Disease Day in Jinan, China. This alliance, founded by Shandong Academy of Medical Sciences, included 17 medical institutions from 13 provinces in China (with a population of 0.7 billion), at that time. Members of the alliance have recently published an article in the Orphanet Journal of Rare Diseases on the goals and challenges of the rare disease alliance in China. The authors rightly point out that China faces a challenge of great magnitude as it is recognised as one of the countries with the world’s largest rare disease population. Due to which the authors believe that help for rare disease patients living in China should be available in the near future. Some of the problems that the authors mention are the lack of legislation that benefit rare disease patients (such as a push towards research) and legislation that encourages orphan drug development. This is compounded by the fact that China also lacks patient registries and data repository systems for rare diseases which limits epidemiologic studies and multi-centre clinical trials on rare diseases. Additionally heterogeneity of regions in China makes uniform regulations for all rare disease patients living in these diverse regions problematic.

In December 2009 the Ministry of Health of China launched the pilot implementation of clinical pathways and guidelines to manage the quality of care in nearly half of China’s public-funded hospitals. However, the authors express regret that “most of these guidelines are designed for common and high incidence diseases; only 46 clinical pathways (13.9%) were developed for rare diseases which still have problems in recording, editing, and statistics”. Currently, genetic tests are usually unavailable for most of the patients with rare genetic diseases and their doctors because of the scarcity of molecular diagnostic resources and their associated high costs in China.

The authors believe that the launch of the first pilot national-level collaborative network project to promote the advancement of rare disease healthcare levels is opportune. This alliance, which now boasts of more than 100 provincial and municipal medical centres, has started this project which selects 20 representative rare diseases as pilot diseases to develop and pilot-test medical guidelines and clinical pathways. Furthermore, the project aims to establish a patient registry and data repository for these 20 rare diseases through the national rare diseases network, which includes the alliance members, as well as a supporting molecular genetic testing centre. The project will also attempt to create awareness among the frontline doctors in low-level medical resources by launching an educational campaign aimed at providing them knowledge about rare diseases. The authors believe in the success of this project and ultimately aim to learn from this pilot to apply the methods to 200 to 300 rare diseases over the next five years.
Read the open access article

 
Office of Population Health Genomics Yearbook
 
The role of the Office of Population Health Genomics (OPHG) in Western Australia (WA) is to integrate advances in genomics into health policy and improve the health of the population of WA. OPHG implements policy and service planning and development cycle comprised of research, development, implementation, monitoring and evaluation. All of these phases can involve stakeholder consultation and engagement. In recent years rare diseases have been a major focus for OPHG. The Office of Population Health Genomics Yearbook 2013 is now available, which encapsulates key successes of OPHG in 2013 that include the development of a scoping paper on the need for a national rare diseases plan (requested by The Australian Health Ministers Advisory Council (AHMAC)), the development and expansion of registries for rare diseases and the establishment of a Screening Policy Section (formed in 2012) as well as future directions. The yearbook has outlined that OPHG maintains strong, international networks with other individuals and organisations within the field of genomics and rare diseases such as IRDiRC, RD-Connect, RARE Best Practices, Orphanet, TREAT-NMD, RARE Best Practices. It also makes and honourable mention of the visits of experts in the field of rare diseases, especially Orphanet and IRDiRC: Dr. Segolene Ayme and Dr. Odile Kremp and their contributions from the French experience.

The yearbook promises that OPHG will continue to develop a WA Rare Diseases Strategy, which is currently scheduled for release in 2014. OPHG will also continue to support and expand registries for rare diseases. OPHG will also continue to support and expand registries for rare diseases. Additionally, it also maintains that membership of OPHG will further strengthen current local, national and international relationships to support its commitment to improving the health of Western Australians.
Read the OPHG yearbook

 
Top contributors towards rare diseases and orphan drugs
 
Terrapin has recently published a list of “The top 50 thought-leaders in orphan drugs and rare disease”. This alphabetical list includes eminent personalities that have advanced rare disease research such as Ségolène Aymé (Orphanet, IRDiRC), Francis Collins (NIH), Chris Austin (NIH) as well as people belonging to the industry such as Flemming Ornskov (Shire), Hans Schikan (Prosensa), Henri Termeer (Genzyme). The list has also incorporated individuals belonging to patient organisations: Yann Le Cam (Eurordis), Peter Saltonstall (NORD), Tateo Ito, (Japan Patient Association), in addition to those making regulatory decisions for orphan medicinal products at the EMA such as Jordi Llinares Garcia, Anne Pariser (FDA), Gayatri Rao (FDA). Furthermore, senators in the U.S government as well as artists who have been instrumental in bringing the cause of rare disease patients to the fore also belong to this list. Download the list here.
 
Guidance Documents and Recommendations
 
Congenital hypothyroidism: European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management
 
Consult the Pubmed abstract
 
To read more about "Congenital hypothyroidism"

 
J Clin Endocrinol Metab. ; 99(2):363-84 ; February 2014
 
Phenylketonuria: recommendations for diagnosis and management
 
Consult the Pubmed abstracts
 
To read more about "Phenylketonuria"

 
Genet Med. ; 16(2):121-31; 188-200 ; February 2014
 
Mesothelioma: guidelines for the diagnosis and treatment
 
Consult the Pubmed abstract
 
To read more about "Mesothelioma"

 
J Thorac Dis. ; 5(6):E254-E307 ; December 2013
 
Homozygous familial hypercholesterolemia: integrated guidance on the care from the International Familial Hypercholesterolemia Foundation
 
Consult the Pubmed abstract
 
To read more about "Homozygous familial hypercholesterolemia"

 
Int J Cardiol. ; 171(3):309-25 ; February 2014
 
Position statement on opportunistic genomic screening from the Association of Genetic Nurses and Counsellors (UK and Ireland)
 
Consult the Pubmed abstract
 
Eur J Hum Genet. ; [Epub ahead of print] ; January 2014
 
Laboratory policies on reporting secondary findings in clinical whole exome sequencing: initial uptake of the ACMG’s recommendations
 
Consult the Pubmed abstract
 
Am J Med Genet A. ; [Epub ahead of print] ; January 2014
 


 
Ethical, Legal & Social Issues
 
EU’s transparency directive drives PhRMA to request its addition to the US's 'Priority Watch List'
 
PhRMA, the Pharmaceutical Research and Manufacturers of America has made an appeal to the Office of United States Trade Representative (USTR) to include the EU on the Priority Watch List for the 2014 Special 301 Report (Read the letter of PhRMA to USTR)). Each year the USTR identifies countries which do not provide "adequate and effective" protection of intellectual property rights or "fair and equitable market access to United States persons that rely upon intellectual property rights". The USTR has previously used the Special 301 Reports to initiate formal dispute settlement proceedings at the World Trade Organisation (WTO) if it believes a country does not comply with the Agreement on Trade-Related Aspects of Intellectual Property Rights (TRIPS).

In a letter to USTR, PhRMA has blamed the EU of ineffective patent enforcement, implementing pricing strategies that ask companies to have a fair pricing approach by taking into account the cost of relevant generics when setting medicine prices, and lastly because of the EMA’s recent drive towards disclosing clinical trial data of medicinal products that have already received marketing authorisation - a course of action that is in line with EU’s transparency directive (Read more on the transparency directive). Ironically, in the same letter, PhRMA has also solicited for greater transparency from the regulatory authorities at the EMA. This represents yet another attempt by PhRMA in its campaign to resist data sharing (Read a previous report on this topic).
Read PhRMA’s letter to USTR

 
Survival of Adults with Acute Lymphoblastic Leukemia in Germany and the United States
 
Adulthood acute lymphoblastic leukemia (ALL) is a rare disease. In contrast to childhood ALL, survival for adults with ALL are poor. Recently, new protocols, including use of pediatric protocols in young adults, have improved survival in clinical trials. In an article published in PLOS One, authors examine population level survival in Germany and the United States (US) to gain insight into the extent to which changes in clinical trials have translated into better survival on the population level. Data were extracted from the Surveillance, Epidemiology, and End Results database in the US and 11 cancer registries in Germany. Patients age 15–69 diagnosed with ALL were included. Survival was higher in Germany than the US for men but not for women. Survival for adults with ALL continues to be low compared with that for children, but a substantial increase in 5-year survival estimates was seen from 2002 to 2006 in both Germany and the US. The reasons for the survival differences between both countries are unknown.
Consult the Pubmed abstract

 


 
New Syndromes
 



 
A distinct bone-marrow-failure syndrome linked to ERCC6L2 mutations
 
The authors identified a distinct bone-marrow-failure syndrome due to mutations in ERCC6L2, a gene implicated in DNA repair and mitochondrial function.
Consult the Pubmed abstract

 
Am J Hum Genet. ; 94(2):246-56 ; February 2014
 
Brain and muscle disorder associated to primary alterations in mitochondrial calcium signalling caused by loss-of-function mutations in MICU1
 
The authors reported mutations of MICU1 in individuals with a disease phenotype characterized by proximal myopathy, learning difficulties and a progressive extrapyramidal movement disorder.
Consult the Pubmed abstract

 
Nat Genet. ; 46(2):188-93 ; February 2014
 
Optic atrophy with intellectual disability caused by NRF2F1 mutations
 
The authors report six individuals with cerebral visual impairment and/or optic nerve abnormalities, who have either de novo heterozygous missense mutations in NR2F1, or deletions encompassing NR2F1. All affected individuals show mild to moderate intellectual impairment.
Consult the Pubmed abstract

 
Am J Hum Genet. ; 94(2):303-9 ; February 2014
 


 
New Genes
 



 
Hereditary spastic paraplegia: 18 previously unknown genes identified by using whole-exome sequencing in combination with network analysis
 
Consult the Pubmed abstracts
 
To read more about "Hereditary spastic paraplegia"

 
Science ; 343(6170):506-11 ; January 2014
Am J Hum Genet. ; 94(2):268-77 ; February 2014
 
Isolated complex IV deficiency is caused by a founder mutation in PET100 in Lebanese individuals with Leigh syndrome
 
Consult the Pubmed abstract
 
To read more about "Isolated cytochrome C oxidase deficiency"

 
Am J Hum Genet. ; 94(2):209-22 ; February 2014
 
A subtype of hyperphosphatasia with intellectual disability is due to mutations in PGAP3 in five individuals from three unrelated families
 
Consult the Pubmed abstract
 
To read more about "Hyperphosphatasia-intellectual deficiency syndrome"

 
Am J Hum Genet. ; 94(2):278-87 ; February 2014
 
Bilateral renal agenesis: identification of recessive mutations in ITGA8 in two families
 
Consult the Pubmed abstract
 
To read more about "Bilateral renal agenesis"

 
Am J Hum Genet. ; 94(2):288-94 ; February 2014
 
Ocular coloboma caused by heterozygous loss-of-function mutations in YAP1 in two families
 
Consult the Pubmed abstract
 
To read more about "Ocular coloboma"

 
Am J Hum Genet. ; 94(2):295-302 ; February 2014
 
Neurofibromatosis type 3: identification of LZTR1 as a gene predisposing to the disease
 
Consult the Pubmed abstract
 
To read more about "Neurofibromatosis type 3"

 
Nat Genet. ; 46(2):182-7 ; February 2014
 
Glycine encephalopathy is caused by mutations in LIAS, BOLA3 and GLRX5
 
Consult the Pubmed abstract
 
To read more about "Glycine encephalopathy"

 
Brain ; 137(Pt 2):366-79 ; February 2014
 
Autosomal recessive cerebellar ataxia with epilepsy and intellectual disability due to a missense mutation in WWOX in a large consanguineous Saudi Arabian family
 
Consult the Pubmed abstract
 
To read more about "Adult-onset autosomal recessive cerebellar ataxia"

 
Brain ; 137(Pt 2):411-9 ; February 2014
 
Huntington disease-like syndrome: C9orf72 expansion is the most common genetic cause
 
Consult the Pubmed abstract
 
To read more about "Huntington disease-like syndrome"

 
Neurology ; 82(4):292-9 ; January 2014
 
Novel forms of multiminicore myopathy caused by recessive TTN truncating mutations
 
Consult the Pubmed abstract
 
To read more about "Multiminicore myopathy"

 
Hum Mol Genet. ; 23(4):980-91 ; February 2014
 
Non-acquired isolated growth hormone deficiency linked to biallelic mutations in RNPC3 in three sisters
 
Consult the Pubmed abstract
 
To read more about "Non-acquired isolated growth hormone deficiency"

 
EMBO Mol Med. ; [Epub ahead of print] ; January 2014
 
Cerebellar ataxia with hypogonadism caused by a homozygous mutation in STUB1
 
Consult the Pubmed abstract
 
To read more about "Cerebellar ataxia - hypogonadism"

 
Hum Mol Genet. ; 23(4):1013-24 ; February 2014
 
CAPOS syndrome due to a novel recurrent allelic mutation in ATP1A3
 
Consult the Pubmed abstract
 
To read more about "Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss"

 
Orphanet J Rare Dis. ; 9(1):15 ; January 2014
 
Craniopharyngioma: exome sequencing identifies recurrent BRAF mutations
 
Consult the Pubmed abstract
 
To read more about "Craniopharyngioma"

 
Nat Genet. ; 46(2):161-5 ; February 2014
 


 
Research in Action
 



 
Clinical Research
 
Chronic granulomatous disease: reduced-intensity conditioning and HLA-matched haemopoeitic stem cell transplantation are safe and efficacious in high-risk patients
 
Consult the Pubmed abstract
 
To read more about "Chronic granulomatous disease"

 
Lancet ; 383(9915):436-48 ; February 2014
 
Osteogenesis imperfecta: repurposing of teriparatide treatment in adults with less severe disease displaying bone-forming activity
 
Consult the Pubmed abstract
 
To read more about "Osteogenesis imperfecta"
To read more about "Osteogenesis imperfecta type 1"

 
J Clin Invest. ; 124(2):491-8 ; February 2014
 
Thymic epithelial neoplasm: cixutumumab monotherapy is well-tolerated and active, however a risk of development of autoimmunity exists
 
Consult the Pubmed abstract
 
To read more about "Thymic epithelial neoplasm"

 
Lancet Oncol. ; 15(2):191-200 ; February 2014
 
Glycogen storage disease due to phosphoglucomutase deficiency: supplementation with galactose leads to biochemical improvement
 
Consult the Pubmed abstract
 
To read more about "Glycogen storage disease due to phosphoglucomutase deficiency"
To read more about "PGM-CDG"

 
N Engl J Med. ; 370(6):533-42 ; February 2014
 
Juvenile idiopathic arthritis: self-reported pain and disease symptoms persist despite treatment advances
 
Consult the Pubmed abstract
 
To read more about "Juvenile idiopathic arthritis"

 
Arthritis Rheumatol. ; 66(2):462-9 ; February 2014
 
Giant cell arteritis is associated with increased risks for myocardial infarction, cerebrovascular accident, and peripheral vascular disease
 
Consult the abstract
 
To read more about "Giant cell arteritis"

 
Annals of Internal Medicine ; 160(2):73-80-80 ; 2014
 
Stem Cells
 

 
Osteogenesis imperfecta: pre- and post-natal transplantation of fetal mesenchymal stem cells is safe and is of likely clinical benefit
 
Consult the Pubmed abstract
 
To read more about "Osteogenesis imperfecta"
To read more about "Osteogenesis imperfecta type 3"
To read more about "Osteogenesis imperfecta type 4"

 
Stem Cells Transl Med. ; 3(2):255-264 ; February 2014
 
Gene Therapy
 
Cone rod dystrophy: successful sub-retinal injection of AAV5 or AAV8 in the RPGRIP1-deficient dog
 
Consult the Pubmed abstract
 
To read more about "Cone rod dystrophy"

 
Mol Ther. ; 22(2):265-77 ; February 2014
 
Glioblastoma: thymosin beta 4 gene silencing decreases stemness and invasiveness in a mouse model
 
Consult the Pubmed abstract
 
To read more about "Glioblastoma"

 
Brain ; 137(Pt 2):433-48 ; February 2014
 
Hepatocellular carcinoma: DUSP21 silencing significantly suppressed cell proliferation, colony formation, and in vivo tumorigenicity in mice
 
Consult the Pubmed abstract
 
To read more about "Hepatocellular carcinoma"

 
Hepatology ; 59(2):518-30 ; February 2014
 
Steinert myotonic dystrophy: artificial site-specific RNA endonucleases significantly decreased the number of nuclear foci in patients’ cells
 
Consult the Pubmed abstract
 
To read more about "Steinert myotonic dystrophy"

 
Mol Ther. ; 22(2):312-20 ; February 2014
 
Glanzmann thrombasthenia: high-level transgene expression in human megakaryocytes by using a Gp1ba promoter corrects the disease
 
Consult the Pubmed abstract
 
To read more about "Glanzmann thrombasthenia"

 
Blood ; 123(5):753-7 ; January 2014
 
Therapeutic Approaches
 

 
Amyotrophic lateral sclerosis: treatment with an inhibitor of eIF2α phosphorylation in flies and rats neurons rescues TDP-43 toxicity
 
Consult the Pubmed abstract
 
To read more about "Amyotrophic lateral sclerosis"

 
Nat Genet. ; 46(2):152-60 ; February 2014
 
Friedreich ataxia: methylene blue rescues heart defects in a drosophila model
 
Consult the Pubmed abstract
 
To read more about "Friedreich ataxia"

 
Hum Mol Genet. ; 23(4):968-79 ; February 2014
 
Duchenne muscular dystrophy: restoration of muscle strength by angiotensin-1-7 in mdx mice model
 
Consult the Pubmed abstract
 
To read more about "Duchenne muscular dystrophy"

 
Hum Mol Genet. ; 23(5):1237-49 ; March 2014
 
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia: lipid-enriched diet rescues lethality and slows down progression in a murine model
 
Consult the Pubmed abstract
 
To read more about "Inclusion body myopathy with Paget disease of bone and frontotemporal dementia"

 
Hum Mol Genet. ; 23(5):1333-44 ; March 2014
 
Autoimmune pancreatitis: cyclosporine A and rapamycin improve the course of the disease in MRL/Mp mice
 
Consult the Pubmed abstract
 
To read more about "Autoimmune pancreatitis"

 
Gut ; 63(3):494-505 ; March 2014
 
Systemic sclerosis: inactivation of evenness interrupted reduces experimental fibrosis in different preclinical models
 
Consult the Pubmed abstract
 
To read more about "Systemic sclerosis"

 
Ann Rheum Dis. ; 73(3):624-7 ; March 2014
 
Down syndrome: prenatal pharmacotherapy with fluoxetine rescues brain development in mouse models
 
Consult the Pubmed abstract
 
To read more about "Down syndrome"

 
Brain ; 137(Pt 2):380-401 ; February 2014
 
Maternal pretreatment with bumetanide attenuates autism pathogenesis in the fragile X rodent models of autism
 
Consult the Pubmed abstract
 
To read more about "Fragile X syndrome"

 
Science ; 343(6171):675-9 ; February 2014
 
Nephrogenic diabetes insipidus: cell-permeable pharmacological chaperones as potential therapeutic treatment
 
Consult the Pubmed abstract
 
To read more about "Nephrogenic diabetes insipidus"

 
Pharmacol Res. ; [Epub ahead of print] ; November 2013
 
Diagnostic Approaches
 

 
Oligosaccharidosis: evidence for the advantages of using a MALDI-TOF/TOF mass spectrometric method
 
Consult the Pubmed abstract
 
To read more about "Oligosaccharidosis"

 
Orphanet J Rare Dis. ; 9(1):19 ; February 2014
 


 
Patient Management and Therapy
 
Familial adenomatous polyposis: review on strategies for improving patient outcome
 
Consult the abstract
 
To read more about "Familial adenomatous polyposis"

 
Expert Opinion on Orphan Drugs ; Vol. 2, No. 2 , Pages 113-122 ; February 2014
 
Atypical hemolytic uremic syndrome: eculizumab is highly effective and superior to plasmatherapy
 
Consult the abstract
 
To read more about "Atypical hemolytic uremic syndrome"

 
Expert Opinion on Orphan Drugs ; Vol. 2, No. 2 , Pages 123-135 ; February 2014
 
Atypical hemolytic uremic syndrome: eculizumab is highly effective and superior to plasmatherapy
 
Consult the abstract
 
To read more about "Atypical hemolytic uremic syndrome"

 
Expert Opinion on Orphan Drugs ; Vol. 2, No. 2 , Pages 123-135 ; February 2014
 
Budd-Chiari syndrome: an overview of current treatment methods
 
Consult the abstract
 
To read more about "Budd-Chiari syndrome"

 
Expert Opinion on Orphan Drugs ; Vol. 2, No. 2 , Pages 147-157 ; February 2014
 
Lambert-Eaton myasthenic syndrome: review on treatment options
 
Consult the abstract
 
To read more about "Lambert-Eaton myasthenic syndrome"

 
Expert Opinion on Orphan Drugs ; Vol. 2, No. 2 , Pages 159-167 ; February 2014
 
Juvenile idiopathic arthritis: clinical efficacy of anakinra shown
 
Consult the abstract
 
To read more about "Juvenile idiopathic arthritis"

 
Expert Opinion on Orphan Drugs ; Vol. 2, No. 2 , Pages 181-188 ; February 2014
 
Juvenile idiopathic arthritis: improvement in health-related quality of life for children after start of treatment with etanercept
 
Consult the Pubmed abstract
 
To read more about "Juvenile idiopathic arthritis"

 
Arthritis Care Res (Hoboken). ; 66(2):253-62 ; February 2014
 
Guillain-Barré syndrome: review on pharmacological treatment for pain
 
Consult the Pubmed abstract
 
To read more about "Guillain-Barré syndrome"

 
Cochrane Database Syst Rev. ; 10:CD009950 ; October 2013
 
Mucopolysaccharidosis type 2: no available evidence of improvement using enzyme remplacement therapy with idursulfase
 
Consult the Pubmed abstract
 
To read more about "Mucopolysaccharidosis type 2"

 
Cochrane Database Syst Rev. ; 1:CD008185 ; January 2014
 
Cystic fibrosis: once- and three-times daily aminoglycoside antibiotics appear to be equally effective in the treatment of pulmonary exacerbations
 
Consult the Pubmed abstract
 
To read more about "Cystic fibrosis"

 
Cochrane Database Syst Rev. ; 2:CD002009 ; February 2014
 
Primary testicular lymphoma: a review
 
Consult the Pubmed abstract
 
Blood ; 123(4):486-93 ; January 2014
 
Idiopathic inflammatory myopathy: a review
 
Consult the Pubmed abstract
 
To read more about "Idiopathic inflammatory myopathy"

 
Handb Clin Neurol. ; 119:495-512 ; 2014
 
Reversible cerebral vasoconstriction syndrome: a review
 
Consult the Pubmed abstract
 
To read more about "Reversible cerebral vasoconstriction syndrome"

 
Handb Clin Neurol. ; 121:1725-41 ; 2014
 
Handbook of Clinical Neurology has published several articles on neurological aspects of rare systemic diseases
 
Consult the Pubmed abstracts
 
To read more about "Sarcoidosis"
To read more about "Achondroplasia"
To read more about "Ehlers-Danlos syndrome, vascular type"
To read more about "Ehlers-Danlos syndrome"
To read more about "Marfan and Marfan-related disorder"
To read more about "Arterial tortuosity syndrome"
To read more about "Pseudoxanthoma elasticum"
To read more about "Classical homocystinuria"
To read more about "Osteogenesis imperfecta"
To read more about "Mucopolysaccharidosis"
To read more about "Porphyria"
To read more about "Sickle cell anemia"
To read more about "Immunoglobulin A vasculitis"
To read more about "Cysticercosis"
To read more about "Behçet disease"
To read more about "Lyme disease"

 
Handb Clin Neurol. ; 119:305-33, 551-63, 565-76, 839-49, 1015-25, 1101-11, 1445-59, 1473-83, 1703-23 ; 2014
 


 
Orphan Drugs
 
Regulatory News
 
Clinical development success rates for investigational drugs: the success of orphan drugs
 
Nature Biotechnology has published a comprehensive survey of clinical success rates of drugs approved by Food and Drug Administration (FDA), across the drug industry to date shows productivity may be even lower than previous estimates. The article consists of a section on how successful orphan drugs have been over the years in its different phases of obtaining marketing authorisation from the FDA. The authors report that although drugs for orphan indications have high rates of phase 1 and 2 success, phase 3 and New Drug Application (NDA)/Biologic License Application (BLA) success rates are similar to the regular drugs. Orphan drugs can receive orphan status at all stages of development: preclinical, phase 1, phase 2, phase 3 and NDA/BLA. The authors found that orphan indication for phase 1 and 2 success rates were well above average. Orphan phase 3 success rates also compared favorably with all indications and orphan NDA/BLA approvals were lower. A subgroup analysis of phase 3 and NDA/BLA stage orphan drugs by indication reveals that the success rates of orphan drugs as oncological treatment were lower than nononcology drugs with an orphan indication. The authors believe that some of the low phase 3 rates may be attributed to trial design factors and insufficient communication between sponsors and regulators during their end-of-phase-2 meetings. The authors recommend simultaneous improvements in basic science to enable improvements in success rates. According to authors their data is a cautionary tale as achieving FDA approval for only one-in-ten drug indications that enter the clinic is a concerning statistic for drug developers, regulators, investors and patients.
Access the article

 
Future Oversight of Recombinant DNA Research: Recommendations of an Institute of Medicine Committee
 
The National Institutes of Health (NIH) established the Recombinant DNA Advisory Committee (RAC) in 1974 in response to public concerns about the safety of manipulating genetic material through recombinant DNA (rDNA). Through its Gene Transfer Safety Assessment Board the RAC also surveys, aggregates, and analyzes adverse events across all human gene transfer trials. However, now due to the accumulation of 40 years of experience with gene transfer research we have a better understanding and acceptance of the risks and potential benefits. Therefore, the current function of RAC is now being questioned by researchers and clinicians alike. Due to this the NIH commissioned the Institute of Medicine (IOM) to assess whether gene transfer research continues to warrant additional oversight, who recommended limiting the role of RAC (Read previous report on OrphaNews, Read the Pubmed abstract of the article).

In the current article the authors agree with IOM’s recommendation as they believe that as gene transfer research has matured, the complexity of the overall regulatory environment has remained. Gene transfer research continues to be subjected to multiple layers of review: the Food and Drug Administration (FDA), institutional review boards (IRBs), institutional biosafety committees (IBCs), and the RAC. The authors concede that although a small number of gene transfer protocols may continue to warrant public review, over time the FDA, IRBs, and IBCs should be able to effectively undertake all oversight functions. They recommend that the expertise and authority of the RAC are best used to provide additional oversight only in exceptional circumstances when the certain criteria for the therapy are fulfilled. The authors do recognise the contributions of RAC and believe that it can be useful in developing nascent contemporary laboratory and clinical research often shares characteristics similar to those of gene transfer studies 40 years ago such as nanotechnology.
Access the article

 
New orphan drug available in Europe
 
Opsumit by Actelion Registration Ltd., as monotherapy or in combination, is indicated for the long-term treatment of pulmonary arterial hypertension (PAH) in adult patients of WHO Functional Class (FC) II to III. Efficacy has been shown in a PAH population including idiopathic and heritable PAH, PAH associated with connective tissue disorders, and PAH associated with corrected simple congenital heart disease Consult the EMA.
 
BioMarin snags rare pediatric disease treatment approval with VIMIZEN
 
BioMarin Pharmaceutical Inc. (“BioMarin”) and FDA announced the approval of a Biologic License Application for a new product -VIMIZEN (elosulfase alfa) - for patients with Mucopolysaccharidosis type IVA, also known “Morquio A syndrome”. BioMarin are pricing its latest orphan disease drug at $380,000 per year, including discounts. BioMarin expects Vimizin sales in the range of $60-70 million in 2014 with more than 350 patients on therapy by the end of the year.
 
Political and Scientific News
 
Antisense-mediated exon skipping: Taking advantage of a trick from Mother Nature to treat rare genetic diseases
 
Antisense oligonucleotides (AON), although widely used in basic research for more than a decade now, has only recently been appreciated for its potential for treatment to correct abnormal pre-mRNA splicing, which can be the cause of some rare diseases. A review published in Experimental Cell Research authors have written on the state of the art on exon skipping using antisense oligonucleotides as a potential therapy for rare genetic diseases. The authors have delineated the versatility of this approach providing various “real world” examples. These examples also provide methods by which different mutations can be corrected. The examples that the authors provide include exon skipping to restore the open reading frame: for the treatment of Duchene muscular dystrophy; antisense oligonucleotides to block gene expression: exploited for myostatin knockdown; alternative splicing methods: used successfully to treat tauopathies; cryptic splicing: to correct ryanodine receptor mutations and exon inclusion; used for exon 7 inclusion in SMN2 in Spinal muscular atrophy.

The authors do not overlook the challenges associated with using this novel technology for treating rare disease. Ability to deliver the AON to target appropriate tissues is considered one of the major challenges. Another obstacle in using AON is the mutation specificity of the approach. This has been recently observed in the disappointing Phase 3 clinical trial results of the exon skipping drug drisapersen for the treatment of DMD as all patients in the experimental group did not benefit from this treatment. It has been recently announced that a subset of patients do benefit from the treatment, which substantiates the necessity of mutation specificity for AONs.
Consult the Pubmed abstract

 


 
Grants
 


 
The ECD Global Alliance is soliciting Letters of Intent for funding of research projects focused on the study of Erdheim-Chester Disease
 
The Erdheim-Chester Disease Global Alliance is interested in receiving Letter of Intents for any study that can lead to an increase of knowledge related to the etiology, pathophysiology, diagnosis or treatment of Erdheim-Chester Disease. Upto a 100,000 USD will awarded to a maximum of 2 grants for projects that focus on areas that include development and implementation of an ECD patient registry, clinical trials related to treatment of ECD, improving the quality of life for ECD patients, simplifying diagnosis of ECD, understanding the pathobiology and molecular mechanisms of the disease. All investigation proposals will be considered and all qualified and interested investigators are encouraged to submit before 1 April, 2014.
For further information

 
DEBRA International research grants
 
This grant aims to
• Improve our understanding of the biology and genetics of all forms of EB, as better understanding can lead to new approaches to diagnose and treat EB
• Work towards the development of therapies (including possible gene-therapies, cell-therapies, drug therapies or protein therapies)
• Understand the nature of wound healing and the development of skin cancer in EB, and seek to develop better treatments and prevention strategies
• Support clinical care research to improve the management of EB through symptom relief
The deadlines for application submissions are normally twice per year, on 15th February or March and 15th September. Decisions on funding applications from these calls will normally be made in June and December, respectively.
However, details of calls and submission dates can vary from year to year, so always check this page

 
Call for proposals IFCAH 2014
 
This call for proposals, open to European groups, aimed to support research on Congenital Adrenal Hyperplasia (CAH). Specific topics that the proposals should focus on include: Increasing knowledge on pathophysiology of the disease, Prevention, diagnostic and treatment of natural or iatrogenic complications, Proposition of new therapeutic targets and protocols. Selected research projects will be supported up to EUR150k (total) and the funding period will not exceed three years. Funds will have to be used for expenses directly linked to the project, including specific equipment, operating costs or salaries of co-workers.

Applicants must hold an M.D., Ph.D., or equivalent academic degree and have a faculty position or equivalent at a college, university, medical school, or comparable institution. The projects submitted will be evaluated by international experts. Applications must be submitted no later than March 15th, 2014.. Specific forms for application can be obtained from cfp2014@ifcah.org.
For further details

 


 
Partnersearch, Job Opportunities
 
Head of the research unit for genodermatoses
 
DEBRA Austria seeks a head of the research unit at the EB House Austria, with specialisation in genodermatoses.
The ideal candidate will have the following qualifications
• Held/hold a leading position in a research setting for at least 5 years.
• A natural science and/or medical background and a record of research in the field of genodermatoses.
• Fulfil this position as an organisational lead of a research unit, including issues of staffing and finances.
• Experience and record in acquiring third-party funding is excellent.
• Familiar with basic research and translational aspects, and ready to bring promising therapeutic approaches further to the clinic.
• Take care of IP rights and exploitation issues, and to establish contact with an IP expert as counsel.
• Strong interest in sharing knowledge and ideas with colleagues and stakeholders from the scientific and rare disease community, and are willing to participate in relevant conferences and events.
• Bring across complex scientific matters to lay people – e.g. patients and their families – so they are able to understand the basic principles of your research.
Desirable qualities/ qualifications
• Experience with IP rights and technology exploitation are an asset.
• Preferably, you have experience in undertaking and leading on clinical studies. • A management degree is an asset.
TO APPLY Please send in your application by e-mail to office@debra-austria.org. Applications should include: Application letter, CV, Short outline of your field(s) of research, for a lay audience, Publications record. Please contact Dr. Rainer Riedl, chairman of DEBRA Austria, at +43-1-876 40 30-15 if you have any questions. Closing date: Monday, March 10th, 2014

 
Group leader positions in the Imagine Institute of Genetic Diseases
 
The new Imagine Institute of Genetic Diseases, affiliated with the Necker Enfants maladies Hospital campus Paris, is inviting applications for group leader positions. Imagine is an interdisciplinary research center with excellent core facilities for genomics, cell imaging, flow cytometry, bioinformatics, pathophysiology and animal housing for transgenic mice and zebra fish. The new tailor-made building (to be opened in early January 2014) will offer cutting-edge research facilities. The Institute focuses on rare diseases, their genetic architecture and life-long outcomes. Imagine intends to address unmet basic and clinical research questions related to rare diseases, in order to increase knowledge in a major medical field that is currently insufficiently covered. This will result in the development of new biological concepts, diagnostic tools and innovative therapeutics. Applications can focus on any field directly linked or related to the basis, pathophysiology and treatment of genetic diseases, with special emphasis on:
1- Development, stem cells and neuroscience.
2- Computational biology and/or bioinformatics.
Applications in these two areas will be separately evaluated. Appointments will be made at a junior or senior level, depending on experience. Applications should be submitted to Professor Alain Fischer before May 15 2014 Further information can be found at
www.institutimagine.org or email newgroups@institugimagine.org

 


 
Courses & Educational Initiatives
 
European Cytogeneticists Association Courses
 
The European Advanced Postgraduate Course in Classical and Molecular Cytogenetics is designed to provide advanced training in constitutional, haematological, and oncological cytogenetics to medical graduates, pharmacists, pathologists, biologists, health professionals and researchers, with an academic qualification. Information for the 2014 course is now available. For Further details
 
5th ESO-SIOP Europe Masterclass in paediatric oncology
 
Date: 17-22 May 2014
Venue: Ljubljana, Slovenia

ESO and SIOP-Europe are pleased to announce the fifth Masterclass in Paediatric Oncology. This clinically-oriented educational programme has been designed for young paediatric oncologists who wish to improve their skills in clinical management of common childhood tumours. It is designed to offer a unique learning experience, providing practice-oriented training and the teaching sessions will focus on the application of the most recent research findings to clinical practice. Application deadline: 3 February 2014. Information, detailed programme and application form available at www.eso.net

 
radiz - Rare Disease Initiative Zurich
 
Date: 14-16 July 2014
Venue: Zurich, Switzerland

The 2nd radiz Rare Diseases Summer School will focus on a wide variety of subjects in the arena of rare diseases, from disease mechanisms and animal models, to improving diagnoses, to novel therapeutics. There will be lectures and workshops on drug development, model organisms, how to choose clinical endpoints, clinical trials, regulatory aspects, patient registries, patient initiatedresearch, ethical considerations, as well as what rare diseases may tell us about common diseases.
Further Information

 
Registration opens for joint EMA/FDA/MHLW-PMDA orphan medicinal product workshop
 
Registration is open for the third workshop on orphan product designation and grants jointly organised by the European Medicines Agency (EMA), the US Food and Drug Administration (FDA), the Japanese Ministry of Health, Labour and Welfare (MHLW) and Pharmaceuticals and Medical Devices Agency (PMDA).
The event will be held on Monday 10 March 2014 at the EMA, London, United Kingdom.

The aim of the workshop is to provide information to companies as well as academics on the EMA, FDA and MHLW-PMDA systems for orphan medicinedesignation and on the grant programmes available for the development of orphan medicines. These programmes aim to promote the development of new medicines for the treatment of rare diseases.
Further Information

 


 
What's on Where?
 

 
EUROPLAN National Conferences Croatia
 
Date: 27-28 February, 2014
Venue: Zagreb, Croatia

Organised by the Croatian Alliance for Rare Diseases

 
EUROPLAN National Conferences Belgium
 
Date: 28 February 2014
Venue: Brussels, Belgium

Organised by Belgian National Alliance for Rare Diseases
For further details go to RaDiOrg.be

 
RE(ACT) Congress: 2nd International congress on research of rare and orphan diseases
 
Date: 5-8 March 2014
Venue: Basel, Switzerland

The conference sessions will explore issues and cutting-edge technologies that affect many adult and paediatric conditions. The following topics are to be discussed include Stem cell and cell therapy approaches, mapping diseases and genome instability, pathophysiology and diagnostics, bringing treatments to the clinic, degenerative disorders and research and patients.
For further information

 
Genomic Disorders 2014: The Genomics of Rare Diseases
 
Date: 5-7 March 2014
Venue: Cambridge, UK

Genomic Disorders 2014 will discuss the latest findings on the genomic basis of rare disorders as these can provide such powerful insights into human biology. The meeting will focus on how human genome analysis can best assist future clinical practice and patient care. A particular emphasis of this year’s meeting will be on genomics in reproductive medicine, modelling rare disorders in animal models and cells, and interpreting genomic variants in rare diseases.
For further information

 
The 9th International Congress on Autoimmunity
 
Date: 26-30 March 2014
Venue: Nice, France

This is a prominent conference with experts in immunology, rheumatology and related fields participating. The congress will address the genetic, etiology, diagnostic, clinical aspects and novel therapies of 80 autoimmune diseases.
For further details

 
Gene, Cell and Molecular Therapies for Inherited Metabolic Disease
 
Date: 27 March 2014
Venue: London, UK

The aim of this meeting is to establish and encourage a closer interface between clinicians and scientists with the goal of translating gene therapy and novel technologies into clinical treatment of inherited metabolic disorders to UK patients at the earliest opportunity.
For further information

 
2014 Lymphangioleiomyomatosis International Research Conference
 
Date: 28-30 March 2014
Venue: Chicago, USA

The LAM Foundation will be holding its 17 Annual International Lymphangioleiomyomatosis Research Conference and Patient & Family Educational Symposium on March 28 - 30 in Chicago, IL, USA. Save the date for this informative conference
For further details

 
International Meeting on Fibrodysplasia Ossificans Progressiva, 2014
 
Date: 4-5 April 2014
Venue: Genova, Italy

The 8th International Meeting on Fibrodysplasia Ossificans Progressiva (FOP) organized by the FOP Italia Association will take place in Genova with the participation of scientists from European and American countries who will discuss pathogenic mechanisms of FOP as possible targets for treatments. Representatives of patients associations from several countries and individual patients and families will also participate.
For further information go to fopilatia.it or www.cisef.org

 
7th European Conference on Rare Diseases & Orphan Products (ECRD 2014)
 
Date: 8-10 May 2014
Venue: Berlin, Germany

The European Conference on Rare Diseases & Orphan Products (ECRD) promises to be an enlightening forum for rare disease stakeholders across various disciplines across in European countries. It aims to cover research, development of new treatments, healthcare, social care, information, public health and support. For further details

 
The changing spectrum of IMD: surviving longer and growing old with IMDs
 
Date: 7-9 May 2014
Venue: London; U.K

For further information

 
EUROPLAN National Conferences Spain
 
Date: 6 June 2014
Venue: Madrid, Spain

Organised by FEDER; the Spanish Alliance for Rare Diseases

 
LGDA Patient – Family Conference
 
Date: 13-14 June 2014
Venue: Texas, U.S.

The Lymphangiomatosis & Gorham's Disease Alliance (LGDA) will hold its inaugural Patient - Family Conference. This milestone event will bring patients, families, and experts in the field from around the world together for the very first time on June 13 & 14, 2014, at the Sheraton Suites Market Center in Dallas, Texas, U.S. For details about the conference visit the website.

 
Euromit 2014 - International Meeting on Mitochondrial Pathology
 
Date: 15–19 June, 2014
Location: Tampere, Finland

Euromit 2014 will be the 9th in a series of international conferences dedicated to understanding mitochondrial disease. The conference will bring together leaders of the field as well as many young talents. The organisers expect that around 700 molecular scientists, clinicians and representatives of the healthcare industry to attend.
For further information

 
13th International Congress on Neuromuscular Diseases - ICNMD 2014
 
Date: 5-11 July 2014
Venue: Marseille, France

The XIII ICNMD experts will come together to share knowledge and experiences in the field of neuromuscular diseases. Physicians and scientists, involved in the diagnosis and care to the most updated research in basic mechanisms and therapeutic approaches in the theme will greatly benefit. For further details

 
16th International Conference on Behçet’s Disease
 
Date: 18–20 September, 2014
Venue: Paris, France

The conference will provide high quality contributions on a wide range of topics including clinical innovations, genetics and basic science. Update on new therapeutic strategies will be presented and challenging issues will be discussed. They have planned to invite distinguished lecturers notably in the field of innate immunity.
For further information

 
3rd International Conference on Immune Tolerance 2014
 
Date: 28th - 30th September 2014
Venue: Amsterdam, The Netherlands

The Third International Conference on Immune Tolerance will bring together international delegates to share their latest research and insights into the mechanisms and treatment of many conditions, most notably in transplantation, autoimmune diseases, inflammation and cancer.
For Further Information

 
The Translational Science of Rare Diseases: From Rare to Care II
 
Date: 8-10 October 2014
Venue: Herrenchiemsee, Germany

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. This conference will bring together a number of high profile speakers active in the field of rare disease research and translational medicine.
For further information

 
Dysmorphology and Radiology of Inborn Errors of Metabolism
 
Date: 16-17 October 2014
Venue: Manchester, U.K.

For further information

 
14th International Congress on Neuronal Ceroid Lipofuscinoses (Batten Disease)
 
Date: 22-25 October, 2014
Venue: Córdoba, Argentina

Batten disease is a common name for a group of rare, neurodegenerative genetic disorder affecting approximately 1 in 30,000 individuals. There is presently no known cure for Batten disease
For Further Information

 
2nd International Primary Immunodeficiencies Congress (IPIC)
 
Date: 5-6 November, 2015
Venue: Budapest, Hungary.

The International Patient Organisation for Primary Immunodeficiencies (IPOPI) announces the Second International Primary Immunodeficiencies Congress (IPIC). This event will build on the successful outcomes of the first IPIC which was attended by 400 participants. The congress will be a two-day programme and is opened to all stakeholders with an interest in the clinical management of primary immunodeficiencies (PIDs).
For Further Information

 
Commercial events

 
2nd Orphan Drugs Research & Commercialization Conference
 
Date: 20-21 February 2014
Venue: San Diego, U.S.

This meeting provides a forum for all stakeholders, from researchers, industry leaders, patient advocacy organizations, and regulatory experts to gather and share different perspectives on how to best guide the field forward. The program will include presentations on the latest scientific research, such as RNAi therapeutics and gene therapy; pricing and reimbursement challenges; clinical endpoints; and much more.
For Further Information

 
Cell & Gene Therapy Conference
 
Date: 20-21 February 2014
Venue: San Diego, U.S.

This meeting will discuss the evolving regulatory challenges and pre-clinical requirements, the development and applications of cell and gene therapy, immune responses, as well as business models and commercial milestones.
For further information

 
The Commercialisation of Orphan & Rare Disease Drugs 2014
 
Date: 20–21 March, 2014
Venue: London, UK

This forum provides a unique opportunity to meet, network and hear from acknowledged industry experts. Discover untapped revenue streams in the blockbuster market - increase your bottom line and ensure the commercial success of your organisation. Explore the latest trends in pricing and reimbursement, and more importantly what lies beyond – from optimal business models to improving your marketing and sales strategy.
For further information

 
World Orphan Drug Congress USA
 
Date: 23 – 25 April, 2014 Venue: Washington D.C., U.S. The 4th annual World Orphan Drug Congress USA is dedicated to fostering partnerships and collaboration. It is about expediting orphan drug development and articulating its value, from discovery to patient access, so that manufacturers are guaranteed full and speedy reimbursement.
For Further Information

 
Stem Cell Commercialization & Partnering Conference
 
Date: 23–25 April, 2014
Venue: Boston, U.S

This forum presents information regarding cutting-edge developments in all areas of stem cell research including the biology, medicine, applications, regulations and business of stem cells. This track focuses on the business opportunities, challenges and potential strategies for overcoming them.
For further information

 
9th World Stem Cells & Regenerative Medicine Congress
 
Date: 20–22 May, 2014 Location: London, UK In this event pharma, biotech, academia and investors join together and which is a medium for biotechs and academia to get their research noticed.
For further information

 
The World Orphan Drug Congress Asia 2014
 
Date: 10-11 June 2014
Venue: Singapore

The World Orphan Drug Congress Asia 2014 focuses on fostering partnerships and relationships between industry, governments, payers, investors and patients as well as to expedite orphan drug development and articulating its value, from discovery to clinical development, to license, to manufacturing, to launch and to sustainability of supply, so that manufacturers are guaranteed full and speedy reimbursement.
For Further Information

 


 
OrphaNews, newsletter of the rare disease community
Orphanews is supported by the European Commission's DG SANCO (EUCERD Joint Action N° 2011-22-01)
and the French Muscular Dystrophy Association (AFM)
Editor-in-chief: Ségolène Aymé
Editor: Divya Unni
Editors for Scientific Content: Catherine Pouzat, Sophie Höhn
Contact Us
Editorial Board: Ségolène Aymé, Kate Bushby, Catherine Berens, Barbara Cagniard, Virginie Hivert, Helena Kaariainen, Odile Kremp, Yann Le Cam, Jordi Llinares-Garcia, Antoni Montserrat, Charlotte Rodwell, Jaroslaw Waligora

INTERNATIONAL CORRESPONDENTS
EUCERD Country Representatives: Helmut Hintner (Austria), Pol Gerits (Belgium), Rumen Stefanov (Bulgaria), Ivo Baric (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek Jr. (Czech Republic), Marianne Jespersen (Denmark), Inna Vabamae (Estonia), Helena Kaariainen (Finland), Alain Garcia (France), Birgit Schnieders (Germany), Christos Katamis (Greece), Janos Sandor (Hungary), Thor Thorarinsson (Iceland) , John Devlin (Ireland), Bruno Dallapiccola (Italy), Antra Valdmane (Latvia), Romalda Baranauskiene (Lithuania) , Yolande Wagener (Luxembourg), Miriam Dalmas (Malta), Jolande Huizer (Netherlands), Stein Are Aksnes (Norway), To be nominated (Poland), Alexandre Diniz (Portugal), Emilia Severin (Romania), Borut Peterlin (Slovenia), Frantisek Cisareik (Slovak Republic), Isabel Pena-Rey (Spain), To be nominated (Sweden) , Sabina Gallati (Switzerland), Edmund Jessop (UK)
EUCERD ECDC Representative: Andrew Amato
EUCERD Patient Organisation Representatives: Dorica Dan, Yann Le Cam, Christel Nourissier, Bianca Pizzera
EUCERD Pharmaceutical Industry Representatives: Wills Hughes-Wilson, Kevin William Loth, Samantha Parker, Barbara Valenta
EUCERD Rare Disease Projects under Health Programmes Representatives: Ségolène Aymé, Jean Donadieu, Ester Garne, Domenica Taruscio, Joan Luis Vives Corrons, Thomas Wagner, Susan Webb
EUCERD Rare Diseases Research Projects under Framework Programmes for Research and Technological Development Representatives: Jean-Yves Blay, Kate Bushby, Marc de Baets, Olaf Hiort, Gerard Wagemaker
EUCERD European Commission Participants: Catherine Berens, Iiro Eerola, Jordi Llinares-Garcia (EMA), Georgios Margetidis, Jaroslaw Waligora, Antoni Montserrat Moliner, Michael Huebel, Bruno Sepodes (EMA-COMP)

Orphanet Partner Country Representatives: Kristine Hovhannesyan (Armenia), Hugh Dawkins (Australia), Till Voigtlander (Austria), Rumen Stefanov (Bulgaria), Ana Stavljenic-Rukavina (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek (Czech Republic), John Rosendahl Ostergaard (Denmark), Vallo Tillmann (Estonia), Riitta Salonen (Finland), Joerg Schmidtke (Germany), Helen Michelakakis (Greece), Zsuzsanna Lengyel (Hungary), Andrew Green (Ireland), Annick Raas-Rothschild (Israel), Bruno Dallapiccola (Italy), Tomoko Kodama (Japan), Jana Lepiksone (Latvia), André Mégarbané (Lebanon), Vaidutis Kucinskas (Lithuania), Yolande Wagener (Luxembourg), Abdelaziz Sefiani (Morocco), Gert-Jan van Ommen (Netherlands), Stein Are Aksnes (Norway), Malgorzata Krajewska-Walasek (Poland), Jorge Sequeiros (Portugal), Cristina Rusu (Romania), Dragica Radojkovic (Serbia), Laszlo Kovacs (Slovakia), Borut Peterlin (Slovenia), Francesc Palau (Spain), Désirée Gavhed (Sweden), Loredana D'Amato Sizonenko (Switzerland), Ugur Ozbek (Turkey), Dian Donnai (UK)
For more information on the European Union Committee of Experts on Rare Diseases
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