14 March 2012 print
Editorial
EUCERD update
Nat Pol News
ELS News
Orphanet News
New Syndromes
New Genes
Research in Action
Patient Man & Therapy
Orphan Drugs
Grants
Courses & Education
What's on?
Media, Press & Publications
Subscribe / Unsubscribe
Search the Orphanews Europe archives:
Loading

Archives


 
Editorial
 
International Rare Disease Day: It just keeps on getting better!
Participants around the world lift hands in an unprecedented show of solidarity

 
The fifth International Rare Disease Day saw a record number of activities from a ground-breaking number of countries moving forward awareness, resources and structures for rare disease patients around the world. First-time countries this year included Costa Rica, Chile, Macedonia, Malta, Pakistan, Uruguay, and Venezuela, bringing the total number of countries hosting activities to 64. This year over 300 "Friends of Rare Disease Day" signed up on the Rare Disease Day (RDD) website including the French Ministry of Health and other luminaries such as Harvard Medical School, the Slovenian Ministry of Health, members of the biopharmaceutical industry, numerous patient groups and individuals involved with patients, rare disease research entities, and others. Participants around the world were asked to raise their hands this year in a collective demonstration of solidarity Learn more.


The response to social media was strong: the RDD Facebook page received over 13 000 "likes" and thousands of "Tweets" were sent via Twitter. The official RDD website was visited more than 40 000 times in the weeks leading up to 29 February - more than double the number from the same period a year ago. Over 350 photo stories were uploaded to the site and the special Rare Disease Day video has been viewed over 100 000 times. The media played a key role as print, radio and television news sources around the world reported on the happenings, heightening exposure to the rare disease cause significantly.


Notable this year was the widespread participation from all the major strands of the rare disease community: not only the patients and patient groups; but also members of the biopharmaceutical industry; research organisations and academia; healthcare professionals; and government representatives. Such confederacy embodied the spirit of this year's theme: Solidarity and brought true meaning to the 2012 slogan: Rare but Strong Together.

Held on the last day in February each year, highlights of the 2012 event in Europe include a symposium in Brussels (learn more), the publishing of a consultation for a United Kingdom plan for rare diseases (learn more), the official launch of the French Foundation for Rare Diseases (learn more), and the creation of the Northern Ireland Rare Disease Partnership (learn more). Across the Atlantic, public and private entities in North America were out in force and a major highlight was the launch of the Genetic Testing Registry by the National Institutes of Health in the USA (learn more).





The European Union Committee of Experts on Rare Diseases and OrphaNews Europe express their appreciation for every single participant around the world who brought much needed visibility to the rare disease cause.
View all of the Raising Hands for Rare Diseases photographs

 


 
EUCERD update
 
Fourth meeting of the European Union Committee of Experts on Rare Diseases tackles some key issues
 

The fourth meeting of the European Union Committee of Experts on Rare Diseases (EUCERD) took place on 26-27 January 2012 in Luxembourg. The plenary was preceded by preparatory meetings by stakeholder groups, which resulted in fruitful discussions concerning the two main issues for discussion, the Clinical Added Value of Orphan Drugs (CAVOD) and European Reference Networks.

Clinical Added Value of Orphan Drugs (CAVOD)
The EUCERD has started the elaboration of recommendations for a policy framework around the results of the report of the call for tender study on a mechanism of knowledge exchange on Clinical Added Value of Orphan Drugs (CAVOD) led by Ernst & Young. An initial draft of the EUCERD recommendations was discussed at the preparatory meetings and plenary session. A representative of EUnetHTA, the European network of national health technology assessment agencies, was present to reinforce collaboration with the EUCERD during the plenary session. Following discussion, it was decided that a set of tools is necessary to improve, ease and speed up the assessment of the CAVOD. The EUCERD favours focusing on the sharing of data between Member States to generate evidence for health technology assessment agencies and decision makers and recommends to entrust this task to the EUnetHTA. In conclusion, the EUCERD will issue recommendations to serve as a basis for discussion between the principal stakeholders at the European level, including the relevant services of the European Commission. The final version will be submitted to the EUCERD for adoption at the next meeting in June 2012.

European Reference Networks (ERN) for rare diseases
European Reference Networks (ERN) for rare diseases were another priority topic at this meeting: the EUCERD has started the process of elaborating recommendations on ERN to serve in the development of the criteria for ERN to be established by the Committee on Cross-Border Healthcare. A workshop will take place on 19 June 2012 prior to the next meeting of the EUCERD, in the context of the EUCERD Joint Action, in order to discuss the draft recommendations. The adoption of these recommendations is scheduled for the sixth meeting of the EUCERD in November 2012. Member States were urged to work on the designation of centres of expertise at the national level using the “EUCERD Recommendations on Quality Criteria for Centres of Expertise for Rare Diseases in Member States” adopted in October 2011, as this must be done before ERNs are established. The ERNs will be financed in the context of the 3rd Health Programme of the European Union.

Newborn screening practices in the European Union
The EUCERD was presented the results of the tender on newborn screening practices in the European Union by the contractors. Members gave their feedback on this report and expressed the opinion that best-practices in the field should be disseminated to share expertise between countries, especially for diseases where there is international consensus as regards new born screening (i.e. phenylketonuria and hypothyroidism). It was recommended to set up a collaboration between Member States to share data and knowledge on diseases where screening is technically possible in order to help Member States carry out their benefit-risk assessment. A workshop on newborn screening with the participation of the EU network of experts consulted in the course of the tender on newborn screening is planned for the first trimester of 2013.

European Partnership for Action Against Cancer (EPAAC) and rare cancers
The European Partnership for Action Against Cancer (EPAAC) was presented to the EUCERD and discussion concerning the synergies between this initiative and actions in the field of rare diseases took place. It was decided that the members of the EUCERD implicated in the rare cancers activities of the EPAAC should explore the synergies between this initiative and the EUCERD Joint Action.

National plans and strategies for rare diseases
The Member State representatives of the EUCERD each reported on the progress in their country towards the elaboration of a national plan or strategy for rare diseases, as recommended by the Council Recommendation on an action in the field of rare diseases for 2013. The elaboration or implementation of these plans or strategies seems to be gaining momentum; Member State representatives were asked to identify the person in charge of the elaboration or implementation of their national plan/strategy in order to constitute a network in the context of the work package of the EUCERD Joint Action that continues the actions of the Europlan project.

EUCERD Joint Action and events in 2012
The events programmed for 2012 in the context of the EUCERD Joint Action (which started on 1 March 2012) were presented. A Kick Off meeting was held for associated partners on 12-13 March 2012 in Paris. A number of workshops have already been scheduled including: a workshop to elaborate ERNs on rare diseases on 19 June 2012; an expert workshop on the cross-referencing of terminologies planned for 27-28 September 2012 in Paris; and a workshop on social services in the field of rare diseases in November 2012. The European Union Joint Research Centre in Ispra, Italy has offered to host a EUCERD workshop in Autumn 2012 on the genetic testing offer in Europe.

Elaboration of the 2012 EUCERD report on the “State of the Art of Rare Diseases Activities in Europe”
The EUCERD was also updated on the schedule for the elaboration of the 2012 EUCERD report on the “State of the Art of Rare Diseases Activities in Europe” which will cover activities up to the end of 2011: Member States representatives received at the end of February 2012 their national data (up to December 2011) which they should update with the input of national stakeholders before 30 March 2012. The final publication of this report is scheduled for July 2012.
Consult the Executive Summary of the fourth EUCERD meeting

 


 
National & International Policy Developments
 
Consultation for UK rare disease plan launches on Rare Disease Day
 
29 February, 2012 was the occasion for the Department of Health, on behalf of all four health administrations in the United Kingdom, to launch a consultation for a Rare Disease Plan. Following the European Council Recommendation that each European Union Member State develop a national strategy for its rare disease patients, the plan is open for UK-wide consultation until 25 May 2012. Responses to the consultation will inform the final plan, due to be produced by the end of 2013. In a nutshell, the proposed plan recommends using specialist centres to make exact diagnosis; acknowledges that all doctors should have the right training to be aware of the possibility of a rare disease; and recommends that the care of patients with rare diseases be better coordinated. In a press release, Alastair Kent OBE, the Chair of the group Rare Disease UK stated: “Patients affected by rare diseases have often had to struggle to get effective help from the NHS. Difficulties, delays and mistakes in diagnosis have limited access to good quality care, treatment and support, and have restricted opportunities for research. The publication ... of the consultation on a national plan for rare diseases creates a golden opportunity for the NHS in all four nations of the UK to work together to create a strategic, sustainable response to the needs of the millions of people affected by rare diseases in Britain today. It also provides a basis for improving R&D and supporting the creation of innovative therapies. Rare Disease UK welcomes this consultation and would urge all those with an interest in the health and wellbeing of patients and families with rare diseases to respond and let the Government know their views.”
Learn more

 
French community fetes Rare Disease Day with the launch of a new Foundation devoted specifically to rare disease research
 
There was plenty of joie de vivre in the air on 29 February as the French Fondation de cooperation scientifique Maladies Rares officially launched with a press release in the morning followed by a special soiree in the evening. The creation of the Foundation is a measure delineated in the Research axe of the second French Rare Disease Plan (2011-2014). France was the first country to create a specific rare disease plan for its citizens and is considered a model by countries throughout the world. The Foundation groups France's rare disease research into one cooperative structure that will operate with a sustained source of funding to bring a new synergy to fundamental, clinical and translational research. Founding bodies include the French Association Against the Myopathies - a major-league player in France's rare disease field and organisers of the country's famously successful Telethon; national medical and health research organisation INSERM; the Conference of General Directors of the University Hospitals and the Conference of Presidents of the University. The Foundation will be administrated by a Council composed of representatives from each of the founding member strands and will include experienced researchers and members of academia. Furthermore, the Foundation will benefit from the guidance of a Scientific Committee composed of leading medical specialists and scientists in the field. The Foundation will announce the first call for proposals in 2012 and will collaborate both nationally and on an international scale.
Visit the Fondation maladies rares website

 
Rare Disease Day is the occasion for the launch of the Genetic Testing Registry in the USA
 
The National Institutes of Health (NIH) took the occasion of International Rare Disease Day to launch the Genetic Testing Registry (GTR), a public database of test information submitted voluntarily by genetic test providers. The registry, developed with the input of laboratory test developers, health care providers, and industry groups, is designed to enrich access to genetic testing data. In a press release, NIH Director Francis S. Collins, MD, qualified the registry as "…a tremendous resource for all who are struggling to make sense of the complex world of genetic testing. The GTR is intended for health care providers and researchers and it is hoped that the information will aid the decision-making process for clinicians, provide a boost to research, and also aid laboratories, policy-makers, regulatory agencies and others.
 
Other European news
 
Rare Disease Day symposium showcases progress made in EU-funded rare disease research
 

This year’s International Rare Disease Day included a symposium in Brussels organised between European rare disease patient umbrella organisation Eurordis and the European Commission. Some 120 participants attended the day-long event which featured the presence of the First Lady of Georgia Sandra Roelofs, as well as Ms. Ness Childers (MEP), Paola Testori Coggi (DG Sanco), Ruxandra Draghia Akli (DG Research), Dr. Ségolène Aymé (EUCERD Chair), Mr. Terkel Andersen (Eurordis president), and various EU-funded project leaders. The focus was on the rare disease and orphan drug research successes achieved over the last decade in the European Union. The event also provided an occasion to discuss the way forward. Indeed, DG Sanco leader Paola Testori Coggi supported the call to make rare diseases a priority in the next Public Health Programme. Mrs. Ruxandra Draghia Akli developed the work plan of the International Rare Disease Research Consortium (IRDiRC) in response to the need for more collaboration and resource sharing. The majority of the presentations from the symposium can be viewed online.

 
Northern Ireland Rare Disease Partnership launches on Rare Disease
 

The Northern Ireland Rare Disease Partnership (NIRDP) was formally launched on Rare Disease Day with support from patients, families, health professionals and government representatives. A non-profit organisation, the NIRDP seeks to bring together rare disease patients and organisations with clinicians and other health professionals, researchers and producers of specialist medicines and equipment, health policy makers and academics to find “…practical ways of improving the quality of life, treatment and care for those with rare diseases in Northern Ireland”. The new association will work closely with the Patient Client Council, with other Health and Social Care Agencies in Northern Ireland, with RDUK, IPOSSI, and GRDO in the Republic of Ireland.
Learn more

 
Guidance Documents and Recommendations
 
FDA issues draft guidance for responding to off-label prescription drug requests
 
In the USA, the Food and Drug Administration (FDA) has issued a draft Guidance for Industry entitled Responding to Unsolicited Requests for Off-Label Information About Prescription Drugs and Medical Devices. While not specific to rare diseases, the topic of off-label medicines is an important one as the majority of rare diseases lack a specific treatment and many are treated via off-label products. The USA is not the only country thinking through its policies for off-label product use. In the UK the National Institute for Health and Clinical Excellence recently decided to provide advice on off-label prescription (learn more) and France is revising its policies in the wake of a scandal involving the diabetic drug benfluorex prescribed off-label for weight loss that has rocked the pharmaceutical industry and regulatory agencies.
Consult the FDA draft document

 
Obtaining funding for rare cancer research: tips offered
 
An article appearing in the Journal of the National Cancer Institute reflects upon the challenges of obtaining funding for rare cancers. Similarities can be found in all rare disease funding. In a tight economy, in which everyone is trying to squeeze the most out of their currency, it is easy to see how the logic of awarding funding to higher prevalence conditions could make sense. But as numerous studies have shown, rare disease research often provides vital information for more common diseases. In this article, the authors provide ten tips for obtaining grants in order to study rare malignancies. These include being proactive in approaching and engaging patient groups, foundations, and industry; networking and developing strategic partnerships; taking advantage of existing resources (such as newsletters and websites); capitalising on the reputation of the centre to which the researcher is affiliated, if applicable; contacting federal agencies; and trying to develop a centre of excellence in the field.
Consult the PubMed abstract

 
Bioinformatics, Registries and Data Management
 
The rise of Collective Innovation and its promise for single-gene and complex diseases
 
An article appearing in the revue Current Pharmacogenomics and Personalized Medicine entitled Towards an Ecology of Collective Innovation: Human Variome Project (HVP), Rare Disease Consortium for Autosomal Loci (RaDiCAL) and Data-Enabled Life Sciences Alliance (DELSA) provides a compelling overview of the rise of “Collective Innovation” and its “promise of novel diagnostics for complex diseases and single gene disorders, as well as customized drug therapies, vaccines, cell-based therapies and nutrition” and its application to personalised medicine in the areas of common, neglected and rare diseases. Providing “… insights and expectations from the leading experts in global regions where disease burdens stand to benefit from the HVP, RaDiCAL and DELSA”, the authors note that “Developing countries, in particular, have a significant role to play in the elucidation of the genetic basis of both common and rare disorders, providing an invaluable resource of cases due to large family sizes, consanguinity, and potential founder effects”. The article emphasises that the HVP, RaDiCAL and DELSA “… attest to the ever increasing diversity in the “ecology of collective innovation”, which is essential for discovery of truly novel diagnostics that can benefit global personalized medicine and public health” and concludes on a note of optimism, speculating that the “Fourth Paradigm of data-enabled science” such as open-source genomics analysis, data release and crowdsourcing approaches, “will benefit global society in both developed and developing countries”.
Consult the abstract

 
Which cluster detection method(s) perform best for rare diseases?
 
A free-access text appearing in the International Journal of Health Geographics entitled Detection of Clusters of a Rare Disease over a Large Territory: Performance of Cluster Detection Methods takes childhood leukaemia in France and applies several methods in order to evaluate their performance in realistic hot-spot cluster situations. This study found “... the elliptic scan method and flexible scan method, both of which are easy to use thanks to the SaTScan and FleXScan public software, seem the most able to detect clusters" and the authors contend that “…the results [of their study] hold for any situation in which a systematic search for a localized cluster of a rare disease is conducted over a large territory”.
Consult the abstract

 
Rare disease registries provide an abundance of critical data and resources
 
An article in Contemporary Clinical Trials asks the pertinent question: If you build a rare disease registry, will they enroll and will they use it? The authors, from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD) answer the question affirmatively and go on to underscore the overwhelming value of rare disease registries to gather patient populations for clinical studies and for many other uses: to develop collaborative investigations, learn more about the natural history and pathophysiology of the disease(s), gather and compare genetic data; assess the impact of existing treatments; study the economic impact of the disease and treatment; and capture data on quality of life and psychosocial issues. The authors discuss their strategies for enrolling patients.
Consult the PubMed abstract

 


 
Ethical, Legal & Social Issues
 

 
Recognising rare dental and oral diseases: the responsibility of the dental practitioner
 
The topic for an Editorial article appearing in the revue Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology was spurred by a recent experience of the author during a dental school seminar devoted to the rare condition pemphigus vulgaris. A student asked whether, considering the rarity of the condition (1 or 2 cases per million), as future dentists, would they truly be expected to recognise it? The presentation on the disease included a description by a patient of the long route to diagnosis and the failure of treating dentists and physicians to recognise the condition. The author asserts that "similar to our medical colleagues, this does not imply that the general dentist or dental specialist in the community should be expected to recognize, diagnose, and treat every imaginable condition that may present in the oral cavity. However, as the 'gatekeeper' for general oral health, dentists must be proficient at thoroughly assessing these patients, performing or ordering any additional studies that are needed to arrive at a definitive diagnosis". The next question is how to best impart knowledge of the growing number of rare diseases to medical students in a way that will not overwhelm them and will enable them to recognise a rare disease when it presents and orient patients toward the proper diagnostic and specialised care needed.
Consult the PubMed abstract

 


 
Orphanet News
 
New rare disease emergency guidelines in French and Spanish
 
Orphanet provides rare disease emergency care guidelines to be distributed to emergency and intensive care hospital units and also made available on the Orphanet website. New guidelines are now available in French for:
Interstitial cystitis (Cystite interstitielle)
Toxic epidermal necrolysis (Nécrolyse épidermique toxique)

New emergency guidelines are also available in Spanish, translated via funding from Shire AG, for:
Classical homocystinuria (Homocistinuria clásica)

 


 
New Syndromes
 

 
Transient infantile hypertriglyceridaemia, fatty liver and hepatic fibrosis: GPD1 mutation at cause
 
The authors present a study of 10 patients – from a highly consanguinous population – of 1 to 9 months of age at first examination: vomiting (n=3), failure to thrive (n=1), moderate to severe hepatomegaly and mild to moderate splenomegaly. Among the 10 cases, 6 were asymptomatic, and one only presented an increase of liver enzymes. The analysis showed that they all had a moderate to severe hypertriglyceridaemia and elevated transaminases and gamma glutamyl transferase. The follow-up of these patients – during several years – showed a normalisation of these values. However, fatty liver, initially observed in 8 patients, was present in all after 1 year, progressing to fibrosis. A genetic analysis showed a causal role for a splicing mutation in the GPD1 gene, coding for the glycerol-3-phosphate dehydrogenase.
Read the PubMed abstract

 
Am J Hum Genet ; 49-60 ; 13 January 2012
 
A severe hypochromic anaemia associated with the STEAP3 level of expression
 
The clinical follow-up of three siblings suffering from anaemia is reported in this article: the three patients (two boys and a girl) presented from infancy poorly regenerative anaemia, with negative aetiologic investigation, and iron overload. All needed regular transfusions, from age 19 years for the older brother, 15 years for the sister, and 7 years for the younger brother. Biochemical data suggested that iron overload, which persisted despite regular treatment with deferasirox, occurred before any transfusions had been given. Follow-up until late adolescence or young adulthood showed hypogonadism, with azoospermia in the brothers, and atrophy of the gonads in the sister (who had transient menstruation in her fifteenth year). The younger brother displayed definite growth retardation, massive hepatosplenomegaly, and café au lait blotches. The father had no anaemia and normal iron data. The mother had mild microcytic anaemia with a low serum ferritin, which responded to iron supplementation. By sequencing STEAP3 (which encodes an iron reductase involved in iron acquisition by erythroblasts), the authors found a nonsense causal mutation in the three patients. As both parents were healthy, a recessive mode of transmission was suspected. Investigations showed that the father was a heterozygous carrier of the mutation, with a null allele and a highly expressed allele, while the mother had two weakly expressed alleles. Each of the children inherited the null allele from the father and a weakly expressed allele from the mother.
Read the PubMed abstract

 
Blood ; 6660-6666 ; 15 December 2011
 
3q13.31 microdeletion: developmental delay, overgrowth, hypoplastic male genitals and characteristic facial features
 
The authors report the physical examination and genetic analysis of 24 patients with deletions in the 3q11q23 zone, the shortest region of overlapping being at the 3q13.31 locus (580 kb). Patients have facial features characterised by short philtrum and protruding lips, high arched palate, muscular hypotonia, developmental delay, postnatal overgrowth and, in the majority of males, abnormal genitalia. The authors suggest that DRD3 and ZBTB20, included in this deletion, might be responsible for this new syndrome.
Read the PubMed abstract

 
J Med Genet ; 104-109 ; February 2012
 
Dysmorphic features, intellectual deficit and obesity: 11p15.4 microduplication
 
The authors report a young boy with facial dysmorphic features, mild intellectual deficit, psychomotor developmental delay, overgrowth and obesity. Aggressive behaviour episodes have been noted since 4 years of age. Several clinical signs described in this patient have also been found in his father, brother and paternal grandmother, such as the 11p15.4 microduplication identified in the young boy. This microduplication is located in a 2.29 Mb region that includes 29 genes, of which ZNF214, considered a likely candidate by the authors.
Read the PubMed abstract

 
Am J Med Genet A ; 50-58 ; 13 January 2012
 
Congenital cataracts, hearing loss and developmental delay: a lethal syndrome caused by SLC33A1 mutations
 
Five patients from four families are reported in this article, one of whom had already been described in 2005. All patients presented a severe psychomotor delay, hearing loss and congenital cataracts. Magnetic resonance imaging revealed a cerebro-cerebellar atrophy with hypomyelination. In these patients, serum rates of copper and ceruloplasmin were abnormally low, possibly due to a ceruloplasmin secretion defect of hepatocytes. Death occurred between 2 to 6 years, caused by multiple organ failure.
Read the PubMed abstract

 
Am J Hum Genet. ; 61-68 ; 13 January 2012
 


 
New Genes
 

 
Generalised arterial calcification of infancy and pseudoxanthoma elasticum: ABCC6 at cause
 
Read the PubMed abstract
 
To read more about "Generalized arterial calcification of infancy"
To read more about "Familial thrombomodulin anomalies"

 
Am J Hum Genet ; 25-39 ; 13 January 2012
 
Ocular coloboma and colobomatous microphthalmia: two ABCB6 mutations identified
 
Read the PubMed abstract
 
To read more about "Ocular coloboma"
To read more about "Colobomatous microphthalmia"

 
Am J Hum Genet ; 40-48 ; 13 January 2012
 
Bartsocas-Papas syndrome: identification of the RIPK4 gene via multiple approaches
 
Read the PubMed abstracts
 
To read more about "Bartsocas-Papas syndrome"

 
Am J Hum Genet ; 69-75; 76-85 ; 13 January 2012
 
Porencephaly: COL4A2 mutations pinpointed, following previously identified COL4A1
 
Read the PubMed abstract
 
To read more about "Familial porencephaly"
To read more about "Porencephaly"

 
Am J Hum Genet ; 86-90 ; 13 January 2012
 
Cone-rod dystrophy and retinitis pigmentosa: involvement of C8orf37, a new ciliary gene
 
Read the PubMed abstract
 
To read more about "Retinitis pigmentosa"
To read more about "Beemer-Ertbruggen syndrome"

 
Am J Hum Genet ; 102-109 ; 13 January 2012
 
Weaver syndrome: EZH2 mutations identified
 
Read the PubMed abstract
 
To read more about "Weaver syndrome"

 
Am J Hum Genet ; 110-118 ; 13 January 2012
 
Kabuki syndrome: partial or complete deletions of the KDM6A gene in 3 patients
 
Read the PubMed abstract
 
To read more about "Kabuki syndrome"

 
Am J Hum Genet ; 119-124 ; 13 January 2012
 
Primary hypertrophic osteoarthropathy: SLCO2A1 mutations inactivate the PGE2 transport
 
Read the PubMed abstract
 
To read more about "Primary hypertrophic osteoarthropathy"

 
Am J Hum Genet ; 125-132 ; 13 January 2012
 
Isolated cytochrome C oxidase deficiency: a severe phenotype associated with C12orf62 mutation
 
Read the PubMed abstract
 
To read more about "Isolated cytochrome C oxidase deficiency"

 
Am J Hum Genet ; 142-151 ; 13 January 2012
 
Myhre syndrome: SMAD4, involved in TGFbeta and BMP pathways, at cause
 
Read the PubMed abstracts
 
To read more about "Myhre syndrome"

 
Am J Hum Genet ; 161-169 ; 13 January 2012
Nat Genet ; 85-88 ; January 2012
 
Pancreatic hypoplasia - diabetes - heart disease: dominant effect of mutations in the GATA6 gene
 
Read the PubMed abstract
 
To read more about "Pancreatic hypoplasia - diabetes - heart disease"

 
Nat Genet ; 20-22 ; January 2012
 
Charcot-Marie-Tooth disease with nephropathy: INF2 involved
 
Read the PubMed abstract
 
To read more about "Charcot-Marie-Tooth disease - nephropathy"

 
N Engl J Med ; 2377-2388 ; 22 December 2011
 
Paediatric systemic lupus erythematosus: a recessive mutation of DNASE1L3 at cause
 
Read the PubMed abstract
 
To read more about "Pediatric systemic lupus erythematosus"

 
Nat Genet ; 1186-1188 ; December 2011
 
Isolated NADH-CoQ reductase deficiency: NDUFB9 as a new causal gene
 
Read the PubMed abstract
 
To read more about "Isolated NADH-CoQ reductase deficiency"

 
J Med Genet ; 83-89 ; February 2012
 
Cataract-Cardiomyopthy: complete loss of expression of ANT1 in a patient
 
Read the PubMed abstract
 
To read more about "Cataract - cardiomyopathy"

 
J Med Genet ; 146-150 ; February 2012
 
Ectrodactyly and tibial aplasia: susceptibility due to BHLHA9 duplications
 
Read the PubMed abstract
 
To read more about "Tibial aplasia - ectrodactyly"

 
J Med Genet ; 119-125 ; February 2012
 
BRESEK syndrome: identification of MBTPS2 as the causal gene in a patient
 
Read the PubMed abstract
 
To read more about "Intellectual deficit, X-linked, Reish type"

 
Am J Med Genet A ; 97-102 ; January 2012
 
Autosomal dominant Charcot-Marie-Tooth disease type 2: frameshift mutation in LRSAM1
 
Read the PubMed abstract
 
To read more about "Autosomal dominant Charcot-Marie-Tooth disease type 2"

 
Hum Mol Genet ; 358-370 ; 15 January 2012
 
Familial prostate cancer: germline mutations in HOXB13 identified as a significant risk factor
 
Read the PubMed abstract
 
To read more about "Familial prostate cancer"

 
N Engl J Med ; 141-149 ; 12 January 2012
 
Familial ovarian cancer: mutations in 6 new genes identified by massively parallel sequencing
 
Read the PubMed abstract
 
To read more about "Familial ovarian cancer"

 
PNAS ; 18032-18037 ; 1 November 2011
 
Chronic B-cell lymphocytic leukaemia: identification of novel cancer genes including SF3B1, highlighting splicing role in pathogenesis
 
Read the Pubmed abstracts
 
To read more about "Chronic B-cell lymphocytic leukemia"

 
N Engl J Med ; 2497-2506 ; 29 December 2011
Nat Genet ; 47-52 ; January 2012
Blood ; 6904-6908 ; 22 December 2011
 
Acute myeloid leukaemia: identification of BCOR somatic mutations by whole-exome sequencing
 
Read the Pubmed abstract
 
To read more about "Acute myeloid leukemia"

 
Blood ; 6153-6163 ; 1 December 2011
 


 
Research in Action
 

 
Fundamental Research
 
Cystic fibrosis: disruption of the cytokeratin-8 F580del-CFTR interaction as a novel therapeutic approach
 
Read the Pubmed abstract
 
To read more about "Cystic fibrosis"

 
Hum Mol Genet ; 623-634 ; February 2012
 
Spinocerebellar ataxia type 1: mice phenotype ameliorated by vascular endothelial growth factor (VEGF) treatment
 
Read the Pubmed abstract
 
To read more about "Spinocerebellar ataxia type 1"

 
Nat Med ; 1445-1447 ; November 2011
 
Huntington disease: neuroprotective role of Sirt1 in mammalian models through TORC1 and CREB activation
 
Read the Pubmed abstracts
 
To read more about "Huntington disease"

 
Nat Med ; 153-158; 159-165 ; January 2012
 
Primary amyloidosis: doxycycline reduces fibril formation in a transgenic mouse model
 
Read the Pubmed abstract
 
To read more about "Primary amyloidosis"

 
Blood ; 6610-6617 ; 15 December 2011
 
Renal cell carcinoma: frequent involvement of ubiquitin-mediated proteolysis genes mutations
 
Read the Pubmed abstract
 
To read more about "Renal cell carcinoma"

 
Nat Genet ; 17-19 ; January 2012
 
Neuromyelitis optica: immunopathogenic mechanisms revealed by a new model of ex-vivo spinal cord slice
 
Read the Pubmed abstract
 
To read more about "Neuromyelitis optica"

 
Ann Neurol ; 943-954 ; December 2011
 
Diamond-Blackfan disease: mice with ribosomal protein S19 deficiency as a new model
 
Read the Pubmed abstract
 
To read more about "Blackfan-Diamond disease"

 
Blood ; 6087-6096 ; December 2011
 
Amyotrophic lateral sclerosis: identification of an astrocyte population with clear proliferative and neurotoxic capacity
 
Read the Pubmed abstract
 
To read more about "Amyotrophic lateral sclerosis"

 
PNAS ; 18126-18131 ; 1 November 2011
 
Diffuse large B-cell lymphoma: pathogenicity of FBXO11 inactivation through BCL6 stabilisation
 
Read the Pubmed abstract
 
To read more about "Diffuse large B-cell lymphoma"

 
Nature ; 90-93 ; 15 January 2012
 
Clinical Research
 
Amyotrophic lateral sclerosis: a promising safety and tolerability study of dexpramipexole
 
Read the Pubmed abstract
 
To read more about "Amyotrophic lateral sclerosis"

 
Nat Med ; 1652-1656 ; December 2011
 
Takayasu arteritis: remission in 3 patients with rituximab-mediated B cell depletion therapy
 
Read the Pubmed abstract
 
To read more about "Takayasu arteritis"

 
Ann Rheum Dis ; 75-79 ; January 2012
 
Rett syndrome: delineation of main clinical features and health state of adolescent and adult patients in Italy
 
Read the Pubmed abstract
 
To read more about "Rett syndrome"

 
Am J Med Genet A ; 13-18 ; January 2012
 
Hodgkin lymphoma: security and feasibility of PVAG (prednisone, vinblastine, doxorubicin, gemcitabine) treatment in elderly patients
 
Read the Pubmed abstract
 
To read more about "Hodgkin lymphoma"

 
Blood ; 6292-6298 ; 8 December 2011
 
Gene Therapy
 
Haemophilia B: success of a single-dose infusion of an AAV-mediated factor IX transgene in 6 patients
 
Read the Pubmed abstract
 
To read more about "Hemophilia B"

 
N Engl J Med ; 2357-2365 ; 22 December 2011
 
Neuroblastoma: long-term antitumour activity of chimeric antigen receptor-positive T cells
 
Read the Pubmed abstract
 
To read more about "Neuroblastoma"

 
Blood ; 6050-6056 ; 1 December 2011
 
Therapeutic Approaches
 
Angelman syndrome: unsilencing Ube3a in mice thanks to topotecan, a topoisomerase inhibitor
 
Read the Pubmed abstract
 
To read more about "Angelman syndrome"

 
Nature ; 185-189 ; 21 December 2011
 
Congenital disorder of glycolysation 1a: a success for prenatal mannose treatment in a mouse model
 
Read the Pubmed abstract
 
To read more about "CDG syndrome type Ia"

 
Nat Med ; 71-73 ; January 2012
 
Autosomal dominant progressive external ophthalmoplegia: effect of bezafibrate in a mouse model
 
Read the Pubmed abstract
 
To read more about "Autosomal dominant progressive external ophthalmoplegia"

 
Hum Mol Genet ; 526-535 ; 12 February 2012
 
Fragile X syndrome: improvement of hippocampus-dependent learning and neurogenesis rescue with GSK3beta inhibition in mice
 
Read the Pubmed abstract
 
To read more about "Fragile X syndrome"

 
Hum Mol Genet ; 681-691 ; 1 February 2012
 
Neurodegenerative diseases: identification - by an aggregation sensing reporter - of leflunomide and teriflunomide as polyglutamine aggregate inhibitors
 
Read the Pubmed abstract
 
To read more about "Huntington disease"
To read more about "Amyotrophic lateral sclerosis"

 
Hum Mol Genet ; 664-680 ; 1 February 2012
 


 
Patient Management and Therapy
 

 
Neurofibromatosis type 2: consensus recommendations for current treatments and accelerating clinical trials
 
Read the Pubmed abstract
 
To read more about "Neurofibromatosis type 2"

 
Am J Med Genet A ; 24-41 ; January 2012
 
Six new Clinical Utility Gene Cards available
 
EuroGentest, the EU-funded Network of Excellence for genetic testing, has developed disease-specific points to consider regarding clinical indications for genetic testing - the Clinical Utility Gene Cards (CUGCs). These documents provide clinicians and clinical geneticists with guidance on genetic testing for specific conditions in real settings of clinical genetic services. Published in the European Journal of Human Genetics and also available on the Orphanet website, the CUGCs focus on Mendelian diseases. The European Journal of Human Genetics has published six new Clinical Utility Gene Cards for:

Multi-minicore disease
Mayer-Rokitansky-Küster-Hauser syndrome
Central core disease
Cystinuria
Phenylketonuria
Fabry disease

 


 
Orphan Drugs
 
Regulatory News
 
Seven positive opinions for orphan designation from the COMP in February
 
The European Medicines Agency Committee for Orphan Medicinal Products (COMP) adopted seven positive opinions recommending orphan designation at the February 2012 COMP meeting for the treatment of:

- respiratory distress syndrome in premature neonates of less than 37 weeks of gestational age
- mucopolysaccharidosis type III (Sanfilippo syndrome)
- perinatal asphyxia
- Leber congenital amaurosis
- 5q spinal muscular atrophy
- adrenal cortical carcinoma
- calciphylaxis

Consult the European Register of Designated Orphan Medicinal Products
Consult the Orphanet list of orphan drugs authorised for marketing in Europe

 
Three rare disease drug approvals from the FDA
 
The U.S. Food and Drug Administration (FDA) last month approved Korlym (mifepristone) to control hyperglycemia in adults with endogenous Cushing syndrome. The FDA also recently granted regular approval to Gleevec (imatinib) for expanded use in patients with rare gastrointestinal cancer. The FDA also recently approved Kalydeco (ivacaftor) for the treatment cystic fibrosis in patients ages 6 years and older and who have the specific G551D mutation in the Cystic Fibrosis Transmembrane Regulator (CFTR) gene.

 


 
Grants
 

 
National Niemann-Pick Disease Foundation announces a request for applications for the Peter G. Pentchev Research Fellowship
 
The National Niemann-Pick Disease Foundation has announced a request for applications for the Peter G. Pentchev Research Fellowship, examining the biology of Niemann-Pick Disease Type C, a lethal neurodegenerative disease. International M.D., Ph.D. and D.V.M. postdoctoral researchers are eligible to apply for funding to improve the understanding of the biology and pathogenesis of NPC disease. Preference will be given to research projects developing new therapies and identifying biomarkers of disease activity for diagnosis and clinical trials. Application due date: 1 May 2012.
Learn more

 


 
Courses & Educational Initiatives
 

 
The European School of Genetic Medicine celebrates its 25th anniversary with special courses
 
The European School of Genetic Medicine will celebrate its 25th anniversary. For the occasion, a renewed edition of the Genetic Counselling Course and a special 25th Anniversary edition of the Medical Genetics Course are being organised. Registration for the upcoming ESGM 2012 Spring Courses is already open, including: Basic and Advanced Course in Genetic Counselling in Practice (14-20 April 2012); Course on Molecular and Statistical Genetics of Consanguinity (13-16 May 2012); 25th Course in Medical Genetics (20-25 May 2012). All ESGM courses can be followed live on the Internet through webcasting.
For further details

 
OroDysmorphology Course
 
The first OroDysmorphology course is being held on 24 May 2012 within the context of the 11th Congress of the European Academy of Paediatric Dentistry. Taking place in Strasbourg, France, this pre-congress course will gather European and world experts in the field of syndrome diagnosis and dysmorphology focusing on the oral cavity. The paediatric dentist can contribute to the dysmorphology approach and analysis of a patient/family affected by a syndrome or a rare disease by analysing carefully dental/orofacial malformations, liaising and interacting with the genetic and other health professionals team managing the patient. This hands-on course will allow participants to present and discuss their own cases in front of the expert panel and to benefit from brainstorming and collegial expertise in syndrome and orodental anomalies diagnosis. Therapeutic management of selected cases will be also discussed.
For further details

 
Epidermolysis Bullosa – An Introduction and Advanced Management courses
 
Two training days devoted to Epidermolysis Bullosa are being held at the Great Ormond Street Hospital (London in September 2012. The first, an Introductory Day, will be delivered by the EB Specialist Nurses at Great Ormond Street Hospital, and colleagues from St Thomas's Hospital. The programme will offer an overview of the different types of epidermolysis bullosa, (EB) multi disciplinary management and expected outcomes. It is suitable for community children’s nurses ; nurses working in palliative care; and dermatology nurses. Learn more
The second day-long course, Advanced Management, will offer a greater understanding of the complexities and complications of EB and their management. It is geared towards medical practitioners working with adults and children with EB and will allow attendees to discuss the current research and current / potential therapies; recognise complications pertaining to the different types of EB; explain principles of general care of the patient with EB; describe current treatments and symptom management; and more. Learn more

 
Goldrain Courses in Clinical Cytogenetics and Prenatal Genetic Diagnosis
 
The Goldrain Prenatal Genetic Diagnosis course, tentatively scheduled from 6-12 October 2012 at the Goldrain Castle in South Tyrol (Italy), is aimed at both obstetricians and clinical and laboratory geneticists who have strong mutual interests in each other’s field. In order to have the maximum profit from the lectures and exercises, participants should have at least one year of practical experience in prenatal obstetric diagnosis and/or clinical genetics. Besides the lectures, there is room for discussions, student presentations, and at the end a non-compulsory multiple-choice examination. The Sixth Clinical Cytogenetics course will be held from 15-21 September 2012. The lectures are aimed at both clinicians and cytogeneticists who have strong mutual interests in both fields. To best profit from the lectures and exercises, participants should have at least one year of practical experience in laboratory and/or clinical cytogenetics. .
For further details

 
Master of Science in Haemoglobinopathy
 
A unique opportunity for health professionals to specialise in the field of haemoglobinopathies online with minimum disruption to professional and personal lives. The course has been designed to meet the needs of a wide range of medical professionals, including medical graduates interested in haemoglobinopathy (general physicians, specialists such as paediatricians, haematologists, clinical geneticists, obstetricians/gynaecologists, behavioural scientists); science graduates interested in medical research related to haemoglobinopathy and genetics; and other healthcare professionals interested in haemoglobinopathy – such as counsellors, clinical psychologists, nurse specialists and midwives.
For further details

 
Orphan Academy 2012 Programme
 
The Orphan Europe Academy provides healthcare professionals with the opportunity to increase knowledge, develop new ideas and strengthen scientific collaboration by offering training and educational activities for healthcare professionals involved in the diagnosis and management of patients affected by rare diseases.
For further details

 
EuroGentest Quality Management and Accreditation/Certification of Genetic Testing Workshops
 
The European network of excellence for all aspects of genetic testing, EuroGentest, under its Quality Management and Accreditation/Certification of Genetic testing Workgroup, has several training workshops available around Europe in coming months that focus on accreditation and quality assurance.
For further details

 


 
What's on Where?
 

 
Genomic Disorders 2012
 
21-24 March 2012
Cambridge, UK

Genomic Disorders 2012 presents an exciting blend of genomic science and clinical medicine. The event aims to bring together scientists and clinicians interested in genomic variation in humans and the mechanisms by which it exerts its phenotypic effects. This year’s meeting will discuss the latest findings relating to the genomic basis of rare disorders, and the role of rare variants in common disease, as these can provide such powerful insights into human biology. Genome wide analyses, including most recently Whole Exome Sequencing, are proving to be of great value in discovering the genetic basis of rare disorders and illustrate the power of humans as a model organism to study. As sequencing technology advances apace, other key aspects of genome science need to develop and grow in parallel.
For further details

 
The Fourth BHD Symposium for Birt-Hogg-Dubé syndrome
 
28-30 March 2012
Cincinnati, USA

Addressing topics relating to the understanding, diagnostics and treatment of Birt-Hogg-Dubé syndrome. Programme to be available soon.
For further details

 
13th International Conference on Neuronal Ceroid Lipofuscinosis and 1st Worldwide Meeting of Batten Disease Int'l Alliance
 
Date: 28-31 March 2012
Venue: London, England

This is the only forum that brings together those with interests in basic science and clinical care for this group of devastating diseases. A new dimension is added this year by bringing together the newly formed Batten Disease International Alliance (BDIA) for its first worldwide meeting.
For further details

 
International Symposium on Hepatic Glycogen Storage Diseases
 
Date: 4-6 April 2012
Venue: Lyon, France

International experts will review the following topics: Glucose metabolism in neonates; A global overview of glycogen metabolism; Liver pathology: steatosis, fibrosis, hepatocellular adenomas and carcinomas and the role of dietary treatment on pathophysiology; Review of kidney, intestinal and muscle complications; and New advances in gene therapy.
For further details

 
Fourth International Meeting on Primary Central Hypoventilation Syndromes
 
Date: 13-14 April 2012
Venue: Warsaw, Poland

The fourth international CHS meeting will be organized by the European CHS Consortium and will address physicians, researchers, families and all persons involved or interested in Central Hypoventilation Diseases.
For further details

 
Myomatrix 2012 Conference
 
Date: 22-24 April 2012
Venue: Nevada, USA

Myomatrix 2012 is a unique conference dedicated to exploring the junction between muscle and extracellular matrix, the myomatrix, the central starting point of inquiry into underlying disease pathogenesis in the CMDs and muscular dystrophies.
For further details

 
8th International Congress on Autoimmunity
 
Date: 9-13 May 2012
Venue: Granada, Spain

Updating physicians, immunologists, rheumatologists, researchers and clinicians interested in autoimmune diseases with the latest available diagnostic tools and new therapeutic avenues. Autoimmunity 2012 provides a key platform for those in search of cures to these diseases, to collaborate, exchange information and to network.
For further details

 
CILIA 2012 - Cilia in Development and Disease
 
Date: 16-18 May 2012
Venue: London, UK

Sessions will cover: Clinical aspects of ciliopathies and genotype/phenotype prediction; Structure and function of cilia; Role of cilia in development and ciliary signalling modules; Role of cilia in disease – human genetics and animal models; Translational therapy and current and future ciliotherapeutics; and more.
For further details

 
Sixth International Alkaline Phosphatases Symposium
 
Date: 16-19 May 2012
Venue: Huningue, France

This upcoming symposium will highlight the wealth of clinical data that has been obtained on the management of hypophosphatasia patients, while also discussing new information about other pathophysiological conditions related to alterations in alkaline phosphatases structure and function.
For further details

 
6th European Conference on Rare Diseases & Orphan Products
 
Date: 23-25 May 2012
Venue: Brussels, Belgium

The conference is structured in such a way as to demonstrate the importance of EU actions in the field of rare diseases and review progress to date. With its plenary and parallel sessions addressing specific issues, knowledge-sharing is encouraged, the exchange of real experiences and best practices are integrated into the programme, cooperation and networking are stimulated and awareness is increased while ensuring continuity of action and prevention of duplication of efforts. Less advanced regions in this field will benefit from experience sharing with other areas in Europe. The Opening & Plenary Sessions will be interpreted into six languages: English, French, Spanish, German, Dutch and Russian.
For further details

 
5th International Conference on Ectodermal Dysplasia (ED2012)
 
Date: 1-3 June 2012
Venue: Erlanger, Germany

The ectodermal dysplasias are a large, heterogeneous group of hereditary disorders characterized by defective formation of tissues derived from embryonic ectoderm. ED2012 will provide a forum for multidisciplinary discussions on treatment paradigms as well as innovative approaches to improving the lives of patients with ectodermal dysplasia.
For further details

 
1st European Conference on Aniridia
 
Date: 8-10 June 2012
Venue: Oslo, Norway

The Norwegian Association of Aniridia is hosting the first international, medical conference on the rare eye disease Aniridia. International experts within the fields of ophthalmology, genetics and paediatrics will present their latest findings. Deadline for abstract submission : 1 April 2012.
For further details

 
10th International Primary Hyperoxaluria Workshop
 
Date: 22-23 June 2012
Venue: Bonn, Germany

A venue for exploring advances in the diagnostics, molecular biology, pathophysiology and treatment in the field of hyperoxaluria.
For further details

 
European Human Genetics Conference 2012
 
Date: 23-26 June 2012
Venue: Nurnberg, Germany

A rich programme awaits participants. Symposia include: The molecular basis of facial malformations; Mechanisms and consequences of chromosomal/genetic mosaicism; Primary microcephaly; and much more. Educational sessions include Next-generation sequencing diagnostics; Trinucleotid repeat disorders and more. Plenary sessions include: Targeted pharmacological therapies in genetic disorders (with presentations on Marfan, tuberous sclerosis complex and fragile X); and more.
For further details

 
11th Conference of the International Association of Bioethics: Bioethics and the Future, and the Future of Bioethics
 
Date: 26-29 June 2012
Venue: Rotterdam, Netherlands

Featuring the session Rare Diseases and Orphan Drugs: ethical aspects. Key themes include: Public health ethics ; Clinical ethics ; Biobanks ; Ethics and research and much more.
For further details

 
European Working Group on Gaucher Disease Meeting
 
Date: 28-30 June 2012
Venue: Paris, France

The quality of the scientific content at the EWGGD meetings attracts an increasing number of participants with each edition. Participants are recognized experts in their fields, committed to both clinical and basic science in Gaucher disease. New results from basic science, clinical trials and registries will be announced during the meeting. Updated guidelines for the management of Gaucher disease will be released, taking into account the experience of different teams in various countries. A practical session and workshop, dedicated to nurses and paramedics with the objective of better integrating their crucial role in patient management through medical education, based on new practices such as home therapy, will be held.
For further details

 
World Federation of Hemophilia World Congress
 
Date: 8-12 July 2012
Venue: Paris, France

The WFH World Congress is the single largest event in the WFH calendar, and is very important to the global bleeding disorders community. Every second year doctors, scientists, healthcare workers, people with bleeding disorders and haemophilia organisations gather to learn about the latest developments in bleeding disorders treatment, to discuss, to debate and to contribute to a strong global organization and community. This year’s Congress will feature presentations, workshops, and exhibits on cutting-edge trends in research and treatment for haemophilia and other inherited bleeding disorders.
For further details

 
Retina International World Congress
 
Date: 14-15 July 2012
Venue: Hamburg, Germany

This congress, held every two years, includes: the latest information on diagnostics, therapy and disease management in diseases such as retinitis pigmentosa, AMD, Usher syndrome, Bardet-Biedl syndrome, Stargardt’s disease, Cone-rod dystrophy, and more; the latest in international research, and much more.
For further details

 
7th European Elastin Meeting
 
Date: 1-4 September 2012
Venue: Ghent, Belgium

Topics include mechanisms of microfibrils and elastic fibres, heritable and acquired diseases, therapeutic advances and more.
For further details

 
First International Symposium on the Ehlers-Danlos Syndrome
 
Date: 8-11 September 2012
Venue: Ghent, Belgium

Topics include natural history; clinical aspects; updated nosology; diagnostics guidelines; therapeutic and management strategies; animal models, and more.
For further details

 
Mechanisms of Intellectual Disability: From Genes to Treatment
 
Date: 3-7 October 2012
Venue: Roscoff, France

The conference will cover the following topics: Genetics and Epigenetics of cognition and intellectual disorders; Cloning and characterization of genes; RNA metabolism and ID; Structures and plasticity of synapses and ID; Neurogenesis and synaptogenesis; Migration, interneurons and ID; Neuronal circuit development and ID; and Towards a cure: lessons from animal models.
For further details

 
3rd Pan-European Conference on Haemglobinopathies and Rare Anaemias: Towards the Future
 
Date: 25–26 October 2012
Venue: Limassol, Cyprus

The Thalassaemia International Federation is delighted to announce the organisation of the 3rd Pan-European Conference, held under the auspices of the Cyprus Presidency and in close collaboration with the Cyprus Ministry of Health. The conference will bring together stakeholders to discuss avenues of action to tackle the growing public health burden of chronic and rare diseases in Member States and the EU.
For further details

 
The Second Joint International Symposium on Neuroacanthocytosis and Neurodegeneration with Brain Iron Accumulation
 
Date: 26–27 October 2012
Venue: Ede, Netherlands

Topics will include autophagy; clinical studies; erythropoiesis; new genes; pathophysiology; protein-misfolding; treatment strategies and round table discussions with patient organisations and basic and clinical researchers.
For further details

 
10th Asia-Pacific Conference on Human Genetics
 
Date: 5-8 December 2012
Venue: Kuala Lumpur, Malaysia

The APCHG2012 will examine various themes on personalised medicine, human variations in the Asia-Pacific region as well the latest advances on genetic diagnostics and technology and their implications to healthcare in the region. In addition, the APCHG2012 will also discuss issues pertaining to bioethics, genetics education and counselling as well as preventative strategies for birth defects and inborn errors of metabolism, and to provide a platform for patients and families to discuss emerging issues in individuals with inherited conditions and chronic disabilities..
For further details

 
8th International Prader-Willi Syndrome Conference
 
Date: 17-21 July 2013
Venue: Cambridge, UK

An opportunity for all involved worldwide in research, working or living with people with PWS to present current research and explore best practice in clinical and day to day management of PWS.
For further details

 


 
Media, Press & Publications
 

 
Conference report of the 8th International Research Symposium on the Marfan Syndrome and Related Conditions
 
Read the PubMed abstract
 
Publication of a general review on mucolipidosis type 4
 
Read the PubMed abstract
 


 
Orphanews Europe, the newsletter of the European Union Committee of Experts on Rare Diseases
Orphanews Europe is supported by the European Commission's DG SANCO
and the French Muscular Dystrophy Association (AFM)
Editor-in-chief: Ségolène Aymé
Editor: Louise Taylor
Contact Us
Editorial Board: Ségolène Aymé, Kate Bushby, Catherine Berens, Helena Kaariainen, Odile Kremp, Yann Le Cam, Jordi Llinares-Garcia, Antoni Montserrat, Catherine Pouzat, Charlotte Rodwell

INTERNATIONAL CORRESPONDENTS
EUCERD Country Representatives: Helmut Hintner (Austria), Pol Gerits (Belgium), Radka Tincheva (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), Maria-Louise Borg (Malta), Harry Seeverens (Netherlands), Stein Are Aksnes (Norway), Jakub Adamski (Poland), Luis Nunes (Portugal), Ana Maria Vladareanu (Romania), Borut Peterlin (Slovenia), Frantisek Cisareik (Slovak Republic), Isabel Pena-Rey (Spain), Andor Wagner (Sweden) , Sabina Gallati (Switzerland), Edmund Jessop (UK)
EUCERD ECDC Representative: Andrew Amato
EUCERD Patient Organisation Representatives: Dorica Dan, Torben Gronnebaek, Yann Le Cam, Christel Nourissier
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, Dian Donnai, Laura Fregonese, 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, Sophie Koutouzov, Gerard Wagemaker
EUCERD European Commission Participants: Catherine Berens, Jordi Llinares-Garcia (EMA), Georgios Margetidis, Antoni Montserrat Moliner, Stefan Schreck, Kerstin Westermark (EMA-COMP)

Orphanet Partner Country Representatives: Tamara F. Sarkisian (Armenia), Hugh Dawkins (Australia) , Till Voigtlander (Austria), Herwig Jansen (Belgium), Rumen Stefanov (Bulgaria), Ana Stavljenic-Rukavina (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek (Czech Republic), John Rosendahl Ostergaard (Denmark), Vallo Tillmann (Estonia), Riitta Salonen (Finland), Manfred Stuhrmann-Spangenberg (Germany), Michael Petersen (Greece), Sandor Janos (Hungary), Andrew Green (Ireland) Lina Basel (Israel), Bruno Dallapiccola (Italy), Tomoko Kodama (Japan), Jana Lepiksone (Latvia), André Mégarbane (Lebanon), Viadutis 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), Desirée 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
Orphanet - All rights reserved