22 March 2016 print
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Editorial
 
Call for interest for European Reference Networks launched
 

A call for highly specialised healthcare providers to establish European Reference Networks (ERNs) has opened today, and will run until 21 June 2016. All relevant information and documents are available on the dedicated web page.

DG SANTE is organising an info day on 7 April 2016 to help candidates with the technicalities of the call for interest for ERNs and call for grants. The event will take place in Brussels on 7 April 2016. As places are limited and priority will be given to potential candidates, interested stakeholders are invited to follow the event online. The web streaming link will be announced on the event’s web page at the beginning of April.

Read the FACT SHEET on ERNS
Read the leaflet on ERNS

Finally, the joint action RD-ACTION also offers additional information:
- A link to the official page of the European Commission on the ERN
- The list of national representatives of the Council of Member States for the ERN
- FAQs (Frequently Asked Questions) to the European Commission on the ERN
- Informal FAQ ERN compiled by RD-ACTION

 


 
Spotlight on...
 
2016 EURORDIS Awards for Excellence in the Field of Rare Diseases
 
The 2016 EURORDIS Awards at the EURORDIS Awards was awarded to outstanding contributors towards rare diseases on Rare Disease Day 2016 (29 February). The awards winners were:

Policy Maker Award
Cristian-Silviu Buşoi, Member of the European Parliament, Romania
Cristian-Silviu Buşoi, Member of the European Parliament since 2007, has consistently demonstrated a strong vision of patient centric, quality and accessible medical systems across Europe in this position. A physician by training and a former lecturer in Public Health and Health Management at the Victor Babes University of Medicine and Pharmacy, Buşoi has translated his expertise into concrete parliamentary action at the European Level.

Volunteer Award
Tsveta Schyns-Liharska, Belgium/Bulgaria
As a parent of a daughter affected with the rare disease alternating hemiplegia, Tsveta has dedicated a considerable amount of time to caring for her daughter and to volunteering for the rare disease community. Tsveta’s volunteer activities include being a patient representative on the Paediatric Committee (PDCO) of the European Medicines Agency since 2008 and for 8 years dedicating a massive amount of time and work as Scientific Coordinator of the European Register for Multiple Sclerosis Project. A true achievement has been the founding and running, as Secretary General, of ENRAH and the work Tsveta has done for the EU Public Health Programme.

Media Award
France Télévisions - AFM-Téléthon, France
The EURORDIS Media Award recognises the long-standing support, for the past 30 years, of France Télévisions in broadcasting live the French Telethon organized in partnership with the AFM-Téléthon. Millions of people have taken part and donated to the AFM-Téléthon cause and thanks to this it has been possible to support research and create the Institute of Biotherapies for Rare Diseases, with laboratories such as the Myology Institute, Généthon, I-Stem et Atlantic Gene Therapies, all leaders in research and development of biotherapies for rare genetic diseases.

Patient Organisation Award
UNIQUE - The Rare Chromosome Disorder Support Group, UK
UNIQUE has been a source of mutual support and self-help to families of children with a rare chromosome disorder since it was founded by Edna Knight MBE in the UK in 1984 as the Trisomy 9 Support Group. Starting with 1192 families, to now representing over 14,000 families world-wide in over 90 countries.

Scientific Award
Prof. Dr. Peter N. Robinson, Institute for Medical Genetics, Universitätsklinikum Charité, Germany
Professor Peter N. Robinson is a Professor for Medical Genomics at the Charité Universitätsmedizin Berlin in Germany, as well as Research Group leader at the Institute of Medical Genetics and Human Genetics of the Charité – Universitätsmedizin Berlin. Amongst other activities, Peter has developed the Human Phenotype Ontology (HPO), as well as a number of algorithms for disease gene prediction and next-generation sequencing data. Peter’s team’s output in recent years has included the development of a novel treatment strategy for Marfan syndrome in mice.

European Rare Disease Leadership Award
Joint winners: Antoni Montserrat Moliner, Jarek Waligóra and Michael Hübel, Directorate
EURORDIS decided to jointly present the European Leadership Award 2016 to three key pioneers from the Directorate General of Health and Food Safety (DG-SANTE) within the European Commission.
Antoni Montserrat Moliner’s role was pivotal in the development and adoption of the Commission Communication in 2008 and the Council Recommendation on Rare Diseases in 2009, which shaped the European Union rare disease policy landscape. Montserrat has championed patient engagement, particularly in his involvement in EUROPLAN and National Plans.
Jarek Waligóra has tirelessly brought his medical expertise to his position of Policy Officer for rare diseases at the European Commission (EC). Waligóra specifically worked on the EC report on the implementation of the Council Recommendation on Rare Diseases, and has been pioneering in setting the policy agenda for the first and the current Rare Disease Joint Actions.

Michael Hübel, Head of the Unit of Programme Management and Diseases at DG-SANTE within the European Commission, has demonstrated strong and visionary leadership within this role. He has been instrumental in initiating and supporting policies around rare diseases, notably in the establishment of the Commission Expert Group on Rare Diseases and the Commission Expert Group on Cancer Control.

Company Award
Actelion Pharmaceuticals Ltd., Switzerland
Established in 1997, Actelion focuses on the discovery, development and commercialization of innovative drugs for diseases with significant unmet medical needs. The Company has, in particular, made a difference for pulmonary arterial hypertension (PAH) in Europe and globally. Actelion’s pipeline reflects continued commitment to address unmet medical needs, including PAH as well as other rare disorders. Actelion has engaged with and supported patient organisations since its founding. This has especially helped raise awareness and understanding of PAH, including the importance of psycho-social support in disease management.

Lifetime Achievement Award
Renza Barbon Galuppi, Italy
In the past 10 years, as President of UNIAMO, Renza has contributed to stressing the importance for patients with Rare Diseases to share their experiences within associations and promote their integration into the community in every facet of life. In particular, she has advocated for patient representatives to be part of the expertise and decision making process, and has committed to the social innovation project, ‘Ristoro Fantasia’, overcoming mental and social barriers within young patients affected by rare diseases.
Read More

 


 
Irdirc
 
Recommendations for the development of patient-centered outcome measures for rare diseases
 
The IRDiRC Patient-Centered Outcome Measures (PCOM) Task Force has published its post-workshop report, which includes recommendations and guidelines for the development of PCOM. The report and its recommendations have resulted from the IRDiRC PCOM workshop that was organized on November 30, 2015 in Paris, France. The recommendations cover a large spectrum, and start with recommendations to respect core principles, e.g. clearly defining what, why, how and where to measure, and who is qualified to measure, before the actual measurement. Guidance is provided on the information of what to measure, based on qualitative interviews with stakeholder groups, informing both the benefits and the harms which patients experience. To read the post-workshop report, including the recommendations, click here. The annexes can be found here. More information about this Task Force can be found here.

 


 
EU Policy News
 
EMA
 
The European Medicines Agency collaboration with academia
 
The European Medicines Agency, in order to implement the strategic priority of establishing a greater collaboration with Academia, is initiating a consultation process with the following objectives:

1. explore opportunities to better support Academia in generating new medicines that meet regulatory standards;
2. channel Academia's advanced knowledge into the regulatory environment;
3. assess the degree of awareness among Academics of the existing activities and incentives provided by regulators to support medicine development;
4. refine regulators' understanding of Academia's needs and expectations and develop a methodology for collaboration.
You are invited to participate to this process by answering a brief questionnaire that also provides space for comments and suggestions.
Please click here to access the questionnaire. Read the background paper
The deadline for completing the on-line questionnaire is 15 April 2016.

 


 
National & International Policy Developments
 
Other European news
 
OPEN for PUBLIC CONSULTATION: Principles for value assessment and funding processes for orphan medicinal products
 
The experts of the European Working Group for Value Assessment and Funding Processes in Rare Diseases have drafted eight Principles which aim to provide a qualitative toolkit for European decision-makers involved in the value assessment and funding processes of OMPs. Their ambition is to facilitate patient access to these products by fostering greater uniformity and consistency in the methods used to make reimbursement and funding decisions for OMPs.

The European Working Group is composed of 10 individuals drawn from different disciplines – physicians, patient advocates, academic health economists, regulators and politicians – and from different European countries. The unifying characteristic is an interest or expertise in issues relating to rare diseases, OMPs and value assessment. The group is led by Professor Lieven Annemans from Belgium.

To ensure that the Principles are relevant and applicable at country level systems, the group is seeking wider feedback on their draft document. Anyone with an interest or expertise in OMPs Value assessment is invited to comment on the document until 22nd of April 2016.

Please click on the following link to complete the survey and provide your feedback on the document: https://www.surveymonkey.com/r/G5YHR8W

 
The context for the thematic grouping of rare diseases to facilitate the establishment of European Reference Networks
 
A paper published in the Orphanet Journal of Rare Diseases, partners of EUCERD Joint Action (EJA), discuss the establishment of European Reference Networks (ERNs), while focusing on “how Rare Diseases could be efficiently grouped in order to constitute European Reference.” According to the authors, ERNs with a broad scope will allow the rare disease community the possibility of reaching a larger number of patients and a more diverse range of rare diseases. After the publication of the EUCERD Recommendations on Rare Diseases European Reference Networks (RD ERNS), and the Delegated and Implementing Acts in March 2014 the EJA conducted a mapping exercise to explore the areas where the previous recommendations needed further attention from the EC Expert Group on Rare Diseases. Of them included that the ERNs must be sufficiently broad and flexible in their scope to adjust to real life. The authors, by providing examples of how rare diseases can be grouped, ascertain that ERNs should aim to encompass all rare disease patients including those without a precise diagnosis and therefore should not be considered as static, nonflexible structures.
Read the Open Access article

 
Other International News
 
IOM report on the ethical, social, and policy considerations of mitochondrial replacement techniques
 
In 2015, the United Kingdom approved MRT for clinical use and remains, as of early 2016, the only country to have authorised the techniques (read this in OrphaNews). The Food and Drug Association (FDA) requested that the Institute of Medicine (IOM) convene an expert committee to address the potential clinical use of mitochondrial replacement techniques (MRT) clinical investigations and whether it could ethically be conducted in the Unites States (read this in OrphaNews).

The committee concluded that, from an ethical perspective, the desire of some women to pursue MRT in order to maintain an nDNA connection while significantly reducing the risk of passing on pathogenic mtDNA can justify proceeding with clinical investigations, subject to limits that focus on protecting the health and well-being of children who would be born as a result of MRT. The committee distinguishes between modification of mtDNA and nDNA, and in their view MRT involves genetic modification, but it is only heritable genetic modification. The committee considered a number of ethical, social, and policy concerns that have been raised about human genetic modification, whether heritable or not, and concluded that these concerns, in the context of MRT, warrant caution and the imposition of restrictions and proper regulation and oversight, rather than a blanket prohibition.

The Committee held a public discussion about this report yesterday at National Academy of Sciences to answer questions or concerns and issue clarifications if any.
Access the report

 
Argentinian rare disease stakeholders meet to discuss the way forward
 
On the International Day of rare diseases, provincial representatives of Argentina gathered through a call from the Ministry of Health of the Nation to agree on joint action and new lines of activities. The virtual meeting, organised by the National Program for rare diseases and congenital anomalies, was opened by Undersecretary of Primary Health Care in Argentina, Dora Vilar de Saráchaga, and Cristina Echegoyen, of the National Department of Community Medicine.

During the opening, Vilar de Saráchaga highlighted the joint work between all actors involved in the issue and encouraged to continue working with enthusiasm. The progress and management of the news to be shared, including a new lecture series to be issued through eHealth devoted to the training of pediatric residents was announced. Also, the openings for residency in medical genetics in the Children's Hospital Sor Maria Ludovica of the city of La Plata was also discussed. Finally, the technical teams mentioned the inclusion of Argentina in the Orphanet website to provide information on the experience of the National Network of Congenital Abnormalities. For further information

 
A rare disease strategy for Canada
 
Canadian Organisation of Rare Diseases has proposed a strategy for Canada which encompasses a five-point action plan that will address unnecessary delays in testing, wrong diagnoses and missed opportunities to treat. This strategy is the result of cross-Canada consultations and contributions from a wide range of stakeholders, including governments, researchers, individual patient organizations, policy experts and others.

First, in terms of timing and priority, the strategy recommends the implementation of the federal Orphan Drug Regulatory Framework.

Second, along with the regulatory framework the strategy emphasises the need for a tailored evaluation and funding approach to ensure timely and equitable patient access to orphan drugs.

Third, a key-integrating factor is the Centre of Excellence, to generate and support research and patient care, which could be linked through a new Canadian Partnership for Rare Diseases or reference network.

Fourth, provide dedicated and increased research funding for rare diseases, potential through Public Private Partnerships. At the same time, allocated resources for patient organizations and ORPHANET Canada is one of the few developed countries that do not provide some support for patient groups, to September 14, 2015 4 contribute to the health system, to support the work with their patient community, and to do outreach and awareness

And finally, adopt national program for Newborn Screening with clear guidelines for adding new diseases based on evidence and international best practices (USA) and implement state of the art DNA and genomic screening with “core sites” and national outreach.

CORD is working with stakeholders to take action immediately, and many are already doing so. They are also planning to take this on the road across the country in order to build awareness, gain feedback and earn the support of other health system stakeholders.
Read the strategy

 
The availability and affordability of orphan drugs in China
 
A study published in Orphanet Journal of Rare Diseases provides an assessment of the availability of orphan drugs in China in comparison to orphan drugs in international markets, such as the U.S., EU and Japan. They also analysed the affordability in China and make suggestions to improve patient access to orphan drugs. According to the authors “orphan drugs approved in the U.S., EU and Japan had 37.8 %, 24.6 % and 52.4 % market availability in China, respectively.” The authors have provided evidence many of the drugs were not reimbursed and that the 22 orphan drugs for 14 rare diseases available in China were unaffordable for the most of residents in China.
Read the Open Access article

 
Guidance Documents and Recommendations
 
Beckwith-Wiedemann syndrome: recommendations on the diagnosis, management and follow-up
 
Consult the Pubmed abstract
 
To read more about "Beckwith-Wiedemann syndrome"

 
Eur J Med Genet. ; 59(1):52-64 ; January, 2016
 
Pulmonary hypertension: guidelines for the diagnosis and treatment
 
Consult the Pubmed abstract
 
To read more about "Pulmonary arterial hypertension"
To read more about "Chronic thromboembolic pulmonary hypertension"

 
Rev Esp Cardiol (Engl Ed). ; 69(2):177 ; February 2016
 
Paediatric pulmonary hypertension: guidelines
 
Consult the Pubmed abstract
 
To read more about "Pulmonary arterial hypertension"

 
Circulation ; 132(21):2037-99 ; November 2015
 
Arrhythmogenic right ventricular cardiomyopathy: an international task force consensus statement for the treatment
 
Consult the Pubmed abstract
 
To read more about "Arrhythmogenic right ventricular cardiomyopathy"

 
Eur Heart J. ; 36(46):3227-37 ; December 2015
 
Eligibility and disqualification recommendations for competitive athletes with cardiovascular abnormalities
 
Consult the Pubmed abstracts
 
To read more about "Hypertrophic cardiomyopathy"
To read more about "Arrhythmogenic right ventricular cardiomyopathy"
To read more about "Marfan syndrome"
To read more about "Loeys-Dietz syndrome"
To read more about "Familial thoracic aortic aneurysm and aortic dissection"
To read more about "Familial long QT syndrome"
To read more about "Catecholaminergic polymorphic ventricular tachycardia"
To read more about "Brugada syndrome"
To read more about "Sickle cell anemia"
To read more about "Familial short QT syndrome"

 
Circulation ; 132(22):e273-80; e303-9; e326-9; e343-5 ; December 2015
 
Chronic lymphocytic leukaemia: current recommendations on management and first-line treatment
 
Consult the Pubmed abstract
 
To read more about "B-cell chronic lymphocytic leukemia"

 
Eur J Haematol. ; 96(1):9-18 ; January 2016
 
Guidelines for diagnostic next-generation sequencing
 
Guidelines for the evaluation and validation of next-generation sequencing (NGS) applications for the diagnosis of genetic disorders has been published in . The work was done on behalf of EuroGentest and the European Society of Human Genetics, with input from relevant stakholders. They include many examples to assist the laboratories in the implementation of NGS and accreditation of this service. According to the publication “the guidelines and statements have been applauded by the genetic diagnostic community, and thus seem to be valuable for the harmonisation and quality assurance of NGS diagnostics in Europe.”
Read the Open Access article

 


 
Ethical, Legal & Social Issues
 
Patenting next generation sequencing technologies: questions and concerns
 
Changes in gene patent laws have led to many questions among the organisations who want to patent next generation sequencing technologies. In a report published in Nature Biotechnology the current understanding of patent laws in this area of NGS industry leaders is expressed. They found that even the industry leaders were confused or troubled by four important points of patent law which are detailed in the report. There is confusion regarding innovations that can be patented. They misjudged the validity and enforceability of competitors’ and one’s own patents and when they can be enforced and the actions constituting patent infringement and penalties associated with it. The authors clarify these issues in this report and inform the readers on these topics.
Access the article

 
Winners of the student essay competition on rare diseases
 
Earlier this year, Findacure, in conjunction with Orphanet Journal of Rare Diseases, announced the winner of its student essay competition on rare diseases (The Student Voice). European medical and biological undergraduate students gave their rare disease opinions, experience, and knowledge, in response to one of three topic choices. The overall winning essay was by Roberta Garau and other top choices are published in the Biomedcentral blog.

The winning essay titled - The medical experience of a patient with a rare disease and her family - is on the difficulties experienced by a patient with rare diseases which are different from one suffering from common diseases. This essay highlights challenges faced by these patients especially to receive a diagnosis which timely as well as accurate.

The other outstanding essays published in the biomedcentral blog are mentioned below
I’m a teenager – do I care if my disease is rare?
Using rare genetic diseases to understand medicine
Rare disease research helps us understand medicine for all diseases

 


 
Orphanet News
 
New Research Projects open for Recruitment
 
Recruiting for a clinical trial in Acromegaly
 
A Phase IIa, Open Label, Dose Ascending Study to Determine the Maximum Tolerated Dose, Safety and Tolerability, Pharmacokinetics and Pharmacodynamics of a Single Dose of Lanreotide PRF in Subjects With Acromegaly Previously Treated and Controlled With Octreotide LAR is being conducted. Patients interested in participating should contact the participating centres listed on the Clinicaltrials.org website or click on these links for country specific centres in Europe: France, Italy, Germany United Kingdom, Belgium, The Netherlands.
 


 
New Syndromes
 



 
1q21.1 triplication with macrocephaly, increased weight and facial dysmorphism in five patients
 
The authors described five patients, including monozygotic twins, with a triplication of the 1q21.1 chromosomal segment. Facial features common to all patients included a high, broad forehead, a flat and broad nasal bridge, long, downslanted palpebral fissures and dysplastic, low-set ears. Likely associated features included macrocephaly and increased weight.
Consult the Pubmed abstract

 
Eur J Med Genet. ; 58(10):503-8 ; October 2015
 
Congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A
 
A consanguineous Bedouin Israeli kindred presented with a novel autosomal recessive intellectual disability syndrome of congenital microcephaly, low anterior hairline, bitemporal narrowing, low-set protruding ears, strabismus and tented thick eyebrows with sparse hair in their medial segment. Brain imaging demonstrated various degrees of agenesis of corpus callosum and hypoplasia of the vermis and cerebellum. A single non-synonymous homozygous duplication frameshift mutation within the coding region of FRMD4A that was common to all affected individuals and not found in 180 non-related Bedouin controls was identified. Three of 50 remotely related healthy controls of the same tribe were heterozygous for the mutation.
Consult the Pubmed abstract

 
Eur J Hum Genet. ; 23(12):1729-34 ; December 2015
 
Syndromic X-linked intellectual disability with facial dysmorphism, autism and severe feeding problems segregating with a missense variant in RLIM
 

The authors describes a three-generation Norwegian family with a novel X-linked intellectual disability syndrome characterised by subtle facial dysmorphism, autism and severe feeding problems. By exome sequencing, a rare missense variant was detected in the RLIM gene, in two affected male second cousins. Sanger sequencing confirmed the presence of the variant in the four affected males (none of whom were siblings) and in three mothers available for testing.
Consult the Pubmed abstract
 
Eur J Hum Genet. ; 23(12):1652-6 ; December 2015
 
Mild intellectual disability and behavioural problems associated with TRIO loss of function
 
Routine clinical diagnostic testing identified an intragenic de novo deletion of TRIO in a boy with intellectual disability. Targeted sequencing of this gene in over 2300 individuals with intellectual disability, identified three additional truncating mutations. All index cases had mild to borderline intellectual disability combined with behavioural problems consisting of autistic, hyperactive and/or aggressive behaviour.
Consult the Pubmed abstract

 
Hum Mol Genet. ; 25(5):892-902 ; March 2016
 
Autosomal-dominant hereditary connective tissue disease linked to a heterozygous missense alteration of EMILIN1
 
By performing trio-exome sequencing of a 55-year-old male proband presenting with multiple symptoms indicative of a connective disorder, the authors identified a heterozygous missense alteration in EMILIN1 gene. The proband presented with ascending and descending aortic aneurysms, bilateral lower leg and foot sensorimotor peripheral neuropathy, arthropathy, and increased skin elasticity. Sanger sequencing confirmed that the EMILIN1 alteration segregated with disease in the affected proband, mother, and son.
Consult the Pubmed abstract

 
Hum Mutat. ; 37(1):84-97 ; January, 2016
 
Autosomal dominant preaxial polydactyly-hypertrichosis associated with the disruption of SHH
 
The authors reported a family affected with a novel condition associating preaxial polydactyly and hypertrichosis of the upper back, following an autosomal dominant mode of inheritance. In affected members, a deletion of SHH was identified.
Consult the Pubmed abstract

 
Eur J Hum Genet. ; 24(1):37-43 ; January, 2016
 


 
New Genes
 



 
Autosomal recessive intellectual disability without neurodegeneration caused by missense variants in AIMP1 in two consanguineous families
 
Consult the Pubmed abstract
 
To read more about "Autosomal recessive non-syndromic intellectual disability"

 
Eur J Hum Genet. ; 24(3):392-9 ; March 2016
 
Cerebral visual impairment due to PGAP1 variants in a boy
 
Consult the Pubmed abstract
 
To read more about "Cerebral visual impairment"

 
Eur J Hum Genet. ; 23(12):1689-93 ; December 2015
 
Early infantile epileptic encephalopathy linked to a de novo variant in ZEB2 in one patient
 
Consult the Pubmed abstract
 
To read more about "Early infantile epileptic encephalopathy"

 
Eur J Med Genet. ; 59(2):70-4 ; February 2016
 
Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9 in two unrelated families
 
Consult the Pubmed abstract
 
Eur J Hum Genet. ; 24(2):198-207 ; February 2016
 
Autosomal recessive spastic paraplegia associated with a missense mutation in FARS2
 
Consult the Pubmed abstract
 
To read more about "Pure hereditary spastic paraplegia"

 
Hum Mutat. ; 37(2):165-9 ; February 2016
 
Brachydactyly type A1 linked to two novel variants in BMPR1B in two individuals
 
Consult the Pubmed abstract
 
To read more about "Brachydactyly type A1"

 
Eur J Hum Genet. ; 23(12):1640-5 ; December 2015
 
Autosomal dominant nystagmus caused by heterozygous mutations of MANBA
 
Consult the Pubmed abstract
 
To read more about "Idiopathic infantile nystagmus"

 
Genet Med. ; 17(12):971-9 ; December 2015
 
Familial restrictive cardiomyopathy linked to missense variants in FLNC in two families
 
Consult the Pubmed abstract
 
To read more about "Familial restrictive cardiomyopathy"

 
Hum Mutat. ; 37(3):269-79 ; March 2016
 
Martinique crinkled retinal pigment epitheliopathy caused by a dominant mutation in MAPKAPK3
 
Consult the Pubmed abstract
 
Hum Mol Genet. ; 25(5):916-26 ; March 2016
 
Syndromic retinitis pigmentosa associated with a homozygous frameshift mutation of ADIPOR1
 
Consult the Pubmed abstract
 
To read more about "Syndromic retinitis pigmentosa"

 
Hum Mutat. ; 37(3):246-9 ; March 2016
 
Fibrolamellar hepatocellular carcinoma linked to the translocation between CLPTM1L and GLIS3 genes
 
Consult the Pubmed abstract
 
To read more about "Fibrolamellar hepatocellular carcinoma"

 
Hum Mol Genet. ; 24(1):50-63 ; January, 2016
 
Brugada syndrome: SCN4A as a candidate gene
 
Consult the Pubmed abstract
 
To read more about "Brugada syndrome"

 
Eur J Hum Genet. ; 24(3):400-7 ; March 2016
 
Atrioventricular septal defect: NIPBL, CHD7, CEP152, BMPR1a, ZFPM2, and MDM4 as candidate genes
 
Consult the Pubmed abstract
 
To read more about "Atrioventricular canal defect"

 
Genet Med. ; 18(2):189-98 ; February 2016
 


 
Research in Action
 



 
Clinical Research
 
Beta-thalassemia major: vitamin C possibly potentiates the efficacy of deferoxamine more than deferiprone and deferasirox
 
Consult the Pubmed abstract
 
To read more about "Beta-thalassemia major"

 
Eur J Haematol. ; 96(3):318-26 ; March 2016
 
Pulmonary arterial hypertension: warfarin does not increase survival
 
Consult the Pubmed abstract
 
To read more about "Pulmonary arterial hypertension"
To read more about "Idiopathic pulmonary arterial hypertension"
To read more about "Systemic sclerosis"

 
Circulation ; 132(25):2403-11 ; December 2015
 
Pulmonary arterial hypertension and chronic thromboembolic pulmonary hypertension: exercise training improves peak oxygen consumption
 
Consult the Pubmed abstract
 
To read more about "Pulmonary arterial hypertension"
To read more about "Chronic thromboembolic pulmonary hypertension"

 
Eur Heart J. ; 37(1):35-44 ; January, 2016
 
Non-ischaemic dilated cardiomyopathy: granulocyte colony-stimulating factor and intracoronary cell therapy improve cardiac function
 
Consult the Pubmed abstract
 
Eur Heart J. ; 36(44):3061-9 ; November 2015
 
Collagenous colitis: low-dose budesonide maintains clinical remission for at least one year
 
Consult the Pubmed abstract
 
To read more about "Collagenous colitis"

 
Gut ; 65(1):47-56 ; January, 2016
 
Paediatric oncology: review on innovative phase I clinical trials
 
Consult the Pubmed abstract
 
Contemp Clin Trials. ; 47:217-227 ; January, 2016
 
Philadelphia chromosome-negative acute lymphoblastic leukaemia: almost same tolerance between children and adults with NOPHO ALL2008 protocol
 
Consult the Pubmed abstract
 
Eur J Haematol. ; 96(2):160-9 ; February 2016
 
Hodgkin lymphoma: mitigated results with umbilical cord blood transplantation
 
Consult the Pubmed abstract
 
To read more about "Hodgkin lymphoma"

 
Eur J Haematol. ; 96(2):128-35 ; February 2016
 
Myelofibrosis with myeloid metaplasia: allogeneic stem cell transplantation may prolong survival, provide disease regression and improve quality of life
 
Consult the Pubmed abstract
 
To read more about "Myelofibrosis with myeloid metaplasia"

 
Eur J Haematol. ; 96(3):222-8 ; March 2016
 
Severe aplastic anemia: porcine antithymocyte globulin (ATG) therapy combined with cyclosporine A has long-term efficacy and is similar or even better than rabbit ATG
 
Consult the Pubmed abstracts
 
To read more about "Idiopathic aplastic anemia"

 
Eur J Haematol. ; 96(3):260-8; 291-6 ; March 2016
 
AL amyloidosis: first-line bortezomib treatment results in favourable response and survival
 
Consult the Pubmed abstract
 
To read more about "AL amyloidosis"

 
Eur J Haematol. ; 96(2):136-43 ; February 2016
 
Immune thrombocytopenic purpura: vincristine therapy is efficient
 
Consult the Pubmed abstract
 
To read more about "Immune thrombocytopenic purpura"

 
Eur J Haematol. ; 96(3):269-75 ; March 2016
 
Mounier-Kühn syndrome: systematic analysis of 128 cases published within last 25 years
 
Consult the Pubmed abstract
 
To read more about "Mounier-Kühn syndrome"

 
Clin Respir J. ; 10(1):3-10 ; January, 2016
 
Therapeutic Approaches
 

 
Mucopolysaccharidosis type 1: bone marrow transplantation and enzyme replacement therapy normalise all histomorphometric parameters of bone remodeling in mice
 
Consult the Pubmed abstract
 
To read more about "Mucopolysaccharidosis type 1"

 
Hum Mol Genet. ; 24(24):7075-86 ; December 2015
 
Primary hyperoxaluria type 1: mice injected with helper-dependent adenoviral vectors for liver-directed gene therapy show a reduction of hyperoxaluria
 
Consult the Pubmed abstract
 
To read more about "Primary hyperoxaluria type 1"

 
Gene Ther. ; 23(2):129-34 ; February 2016
 
Sclerosing cholangitis: inhibition of apical sodium-dependent bile acid transporter changes bile composition and blocks progression of the disease in mice
 
Consult the Pubmed abstract
 
To read more about "Sclerosing cholangitis"

 
Hepatology ; 63(2):512-23 ; February 2016
 
Leber hereditary optic neuropathy: estrogen-like molecules may be useful in prophylactic therapy
 
Consult the Pubmed abstract
 
To read more about "Leber hereditary optic neuropathy"

 
Hum Mol Genet. ; 24(24):6921-31 ; December 2015
 
Spinal muscular atrophy: genetic inhibition of JNK3 ameliorates the disease in mice
 
Consult the Pubmed abstract
 
Hum Mol Genet. ; 24(24):6986-7004 ; December 2015
 
Spinal muscular atrophy: gene-targeting methods as an alternative for restoration of survival motor neuron expression in fibroblast cell lines
 
Consult the Pubmed abstract
 
Gene Ther. ; 23(1):10-7 ; January, 2016
 
Spinal muscular atrophy: hypothermia improves disease manifestation in mice
 
Consult the Pubmed abstract
 
Hum Mol Genet. ; 25(4):631-41 ; February 2016
 
Duchenne muscular dystrophy: dasatinib improves physical appearance of zebrafish musculature and increases swimming ability
 
Consult the Pubmed abstract
 
To read more about "Duchenne muscular dystrophy"

 
Hum Mol Genet. ; 25(2):266-74 ; January, 2016
 
Autosomal recessive limb-girdle muscular dystrophy type 2E: β-Sarcoglycan gene transfer decreases fibrosis and restores force in mice
 
Consult the Pubmed abstract
 
To read more about "Autosomal recessive limb-girdle muscular dystrophy type 2E"

 
Gene Ther. ; 23(1):57-66 ; January, 2016
 
AAV1.NT-3 gene therapy attenuates spontaneous autoimmune peripheral polyneuropathy in mice
 
Consult the Pubmed abstract
 
Gene Ther. ; 23(1):95-102 ; January, 2016
 
Hepatocellular carcinoma: Anti-tumoural gene-based strategy involving nitric oxide synthase type III overexpression reduces cell proliferation of tumours in mice
 
Consult the Pubmed abstract
 
To read more about "Hepatocellular carcinoma"

 
Gene Ther. ; 23(1):67-77 ; January, 2016
 
Familial isolated dilated cardiomyopathy: novel human induced pluripotent stem cells model
 
Consult the Pubmed abstract
 
To read more about "Familial isolated dilated cardiomyopathy"

 
Hum Mol Genet. ; 25(2):254-65 ; January, 2016
 
Neurofibromatosis type 2: new murine model that accurately phenocopies human schwannoma formation
 
Consult the Pubmed abstract
 
To read more about "Neurofibromatosis type 2"

 
Hum Mol Genet. ; 24(1):1-8 ; January, 2016
 
Infantile neuronal ceroid lipofuscinosis: novel mouse model for testing nonsense suppression therapy
 
Consult the Pubmed abstract
 
To read more about "Infantile neuronal ceroid lipofuscinosis"

 
Hum Mol Genet. ; 24(1):185-96 ; January, 2016
 
Diagnostic Approaches
 

 
Fabry disease diagnosis fluorometric assay with zinc sulphate protein precipitation has similar sensitivity, reduces false positive results compared to α–galactosidase A assay
 
Consult the Pubmed abstract
 
To read more about "Fabry disease"

 
Eur J Med Genet. ; 58(12):681-4 ; December 2015
 
Bartter and Gitelman syndromes: differential diagnosis based on clinical characteristics
 
Consult the Pubmed abstract
 
To read more about "Bartter syndrome"
To read more about "Gitelman syndrome"

 
Genet Med. ; 18(2):180-8 ; February 2016
 
Duchenne muscular dystrophy: haplotype-based approach for non-invasive prenatal tests using cell-free foetal DNA in maternal plasma
 
Consult the Pubmed abstract
 
To read more about "Duchenne muscular dystrophy"

 
Genet Med. ; 17(11):889-96 ; November 2015
 


 
Patient Management and Therapy
 
Cystic fibrosis: review on symptomatic treatment strategies
 
Consult the abstract
 
To read more about "Cystic fibrosis"

 
Expert Opinion on Orphan Drugs ; 4(1):5-19 ; January, 2016
 
Cystic fibrosis: review on lumacaftor and ivacaftor for the treatment
 
Consult the abstract
 
To read more about "Cystic fibrosis"

 
Expert Opinion on Orphan Drugs ; 4(2):233-242 ; February 2016
 
Mitochondrial diseases: review on drug development
 
Consult the abstract
 
Expert Opinion on Orphan Drugs ; 4(1):83-92 ; January, 2016
 
Mitochondrial diseases: review on seizures management
 
Consult the abstract
 
Expert Opinion on Orphan Drugs ; 4(2):197-204 ; February 2016
 
Mucopolysaccharidoses: review on treatments
 
Consult the abstract
 
Expert Opinion on Orphan Drugs ; 3(11):1241-1253 ; November 2015
 
Mucopolysaccharidosis type 4A: review on enzyme replacement therapy
 
Consult the abstract
 
To read more about "Mucopolysaccharidosis type 4A"

 
Expert Opinion on Orphan Drugs ; 3(11):1279-1290 ; November 2015
 
Fabry disease: review on current enzyme replacement strategies
 
Consult the abstract
 
To read more about "Fabry disease"

 
Expert Opinion on Orphan Drugs ; 3(11):1319-1330 ; November 2015
 
Pelizaeus-Merzbacher disease: review on pathophysiology and therapeutic strategies
 
Consult the abstract
 
To read more about "Pelizaeus-Merzbacher disease"

 
Expert Opinion on Orphan Drugs ; 3(12):1447-1459 ; December 2015
 
Crigler-Najjar syndrome: review on gene therapy
 
Consult the abstract
 
To read more about "Crigler-Najjar syndrome"

 
Expert Opinion on Orphan Drugs ; 3(12):1387-1396 ; December 2015
 
West syndrome: review on current and future treatments
 
Consult the abstract
 
To read more about "West syndrome"

 
Expert Opinion on Orphan Drugs ; 3(11):1291-1297 ; November 2015
 
Narcolepsy: review on pathogenesis and treatments
 
Consult the abstract
 
To read more about "Narcolepsy-cataplexy"

 
Expert Opinion on Orphan Drugs ; 4(1):63-82 ; January, 2016
 
Rare congenital coagulation disorders: review on factor concentrates
 
Consult the abstract
 
Expert Opinion on Orphan Drugs ; 4(1):49-62 ; January, 2016
 
Autoimmune pulmonary alveolar proteinosis: review on the treatment
 
Consult the abstract
 
To read more about "Autoimmune pulmonary alveolar proteinosis"

 
Expert Opinion on Orphan Drugs ; 4(1):115-123 ; January, 2016
 
Duchenne muscular dystrophy: two reviews on the treatment
 
Consult the first abstract
Consult the second abstract

 
To read more about "Duchenne muscular dystrophy"

 
Expert Opinion on Orphan Drugs ; 4(2):139-152 ; February 2016
Expert Opinion on Orphan Drugs ; 3(11): 1255-1266 ; November 2015
 
Hereditary muscular dystrophy: review on gene therapy for cardiomyopathy
 
Consult the abstract
 
Expert Opinion on Orphan Drugs ; 4(2):169-183 ; February 2016
 
Facioscapulohumeral dystrophy: review on antisense therapy
 
Consult the abstract
 
To read more about "Facioscapulohumeral dystrophy"

 
Expert Opinion on Orphan Drugs ; 3(12):1365-1374 ; December 2015
 
Membranous nephropathy: review on pharmacotherapy options
 
Consult the abstract
 
Expert Opinion on Orphan Drugs ; 4(2):185-196 ; February 2016
 
Systemic sclerosis: review on the treatment
 
Consult the abstract
 
To read more about "Systemic sclerosis"

 
Expert Opinion on Orphan Drugs ; 4(1):31-47 ; January, 2016
 
Leber hereditary optic neuropathy: review on advances in therapeutic strategies
 
Consult the abstract
 
To read more about "Leber hereditary optic neuropathy"

 
Expert Opinion on Orphan Drugs ; 3(12):1439-1446 ; December 2015
 
Acyl-CoA dehydrogenase deficiency: review on novel treatment strategies
 
Consult the abstract
 
To read more about "Acyl-CoA dehydrogenase deficiency"

 
Expert Opinion on Orphan Drugs ; 3(12):1375-1386 ; December 2015
 
Hepatic veno-occlusive disease: review on defibrotide for the treatment
 
Consult the abstract
 
To read more about "Hepatic veno-occlusive disease"

 
Expert Opinion on Orphan Drugs ; 3(12):1491-1501 ; December 2015
 
Propionic acidemia: review on therapeutic strategies
 
Consult the abstract
 
To read more about "Propionic acidemia"

 
Expert Opinion on Orphan Drugs ; 3(12):1427-1438 ; December 2015
 
Osteogenesis imperfecta: review on advances in the classification and treatments
 
Consult the Pubmed abstract
 
To read more about "Osteogenesis imperfecta"

 
Curr Osteoporos Rep. ; [Epub ahead of print] ; February 2016
 
Peripheral nerve sheath tumour: review on the treatment
 
Consult the abstract
 
Expert Opinion on Orphan Drugs ; 4(2):129-138 ; February 2016
 
Childhood medulloblastoma: review on current and future treatment
 
Consult the abstract
 
To read more about "Medulloblastoma"

 
Expert Opinion on Orphan Drugs ; 3(11):1299-1317 ; November 2015
 
Multiple myeloma: two reviews on ixazomib and elotuzumab for the treatment
 
Consult the first abstract
Consult the second abstract

 
To read more about "Multiple myeloma"

 
Expert Opinion on Orphan Drugs ; 4(1):105-113; 215-222 ; January, 2016
 
Acute myeloid leukemia: review on sapacitabine for the treatment
 
Consult the abstract
 
To read more about "Acute myeloid leukemia"

 
Expert Opinion on Orphan Drugs ; 3(12):1461-1468 ; December 2015
 
Acute lymphoblastic leukemia: review on dasatinib for the treatment
 
Consult the abstract
 
To read more about "Acute lymphoblastic leukemia"

 
Expert Opinion on Orphan Drugs ; 3(11):1339-1356 ; November 2015
 
Thyroid carcinoma: review on cabozantinib for the treatment
 
Consult the abstract
 
To read more about "Thyroid carcinoma"

 
Expert Opinion on Orphan Drugs ; 3(12):1469-1477 ; December 2015
 
Pancreatic ductal adenocarcinoma: review on genetic diversity
 
Consult the Pubmed abstract
 
Gastroenterology ; 150(1):48-63 ; January, 2016
 
Brugada syndrome: review on clinical and genetic findings
 
Consult the Pubmed abstract
 
To read more about "Brugada syndrome"

 
Genet Med. ; 18(1):3-12 ; January, 2016
 
Charcot-Marie-Tooth disease: review on the management
 
Consult the Pubmed abstract
 
To read more about "Charcot-Marie-Tooth disease"

 
J Multidiscip Healthc. ; 9:7-19 ; January, 2016
 
Proton-pump inhibitor-responsive esophageal eosinophilia: an entity challenging current diagnostic criteria for eosinophilic esophagitis
 
Consult the Pubmed abstract
 
To read more about "Proton-pump inhibitor-responsive esophageal eosinophilia"
To read more about "Eosinophilic esophagitis"

 
Gut ; 65(3):524-31 ; March 2016
 
Familial medullary thyroid carcinoma: review on management
 
Consult the Pubmed abstract
 
To read more about "Familial medullary thyroid carcinoma"

 
Endocrine ; [Epub ahead of print] ; February 2016
 
Paediatric differentiated thyroid carcinoma: two reviews on the management
 
Consult the Pubmed abstracts
 
To read more about "Differentiated thyroid carcinoma"

 
Semin Nucl Med. ; 46(2):147-64 ; March 2016
Curr Opin Oncol. ; 28(1):37-42 ; January, 2016
 
Squamous cell carcinoma of esophagus: a review
 
Consult the Pubmed abstract
 
To read more about "Squamous cell carcinoma of esophagus"

 
Gastroenterology ; 149(7):1700-15 ; December 2015
 
Three new Clinical Utility Gene Card published in the European Journal of Human Genetics
 
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 three new Clinical Utility Gene Cards for:
Hereditary thoracic aortic aneurysm and dissection
DPAGT1 defective congenital disorder of glycosylation
Autosomal recessive cone-rod dystrophy

 
One new and nine updated GeneReviews published
 
GeneReviews are expert-authored, peer-reviewed disease descriptions ("chapters") presented in a standardized format and focused on clinically relevant and medically actionable information on the diagnosis, management, and genetic counseling of patients and families with specific inherited conditions. One new GeneReviews has been published for:
LTBP4-related cutis laxa

Nine updated GeneReviews have been published for:
Chronic granulomatous disease
Mucopolysaccharidosis type I
Schimke immunoosseous dysplasia
21-hydroxylase-deficient congenital adrenal hyperplasia
Hypophosphatasia
Prader-Willi syndrome
ALS2-related disorders
Cornelia de Lange syndrome
Hyperkalemic periodic paralysis

 


 
Orphan Drugs
 
Political and Scientific News
 
Value-based reimbursement decisions for orphan drugs
 
An article published in PharmacoEconomics endeavors to understand the social value arguments relating to the reimbursement of orphan drugs and provide a “decision-making framework to aid reimbursement decisions in the presence of limited healthcare resources.”According to the authors “the framework may be used to structure policy discussions and to aid transparency about the values underlying reimbursement decisions for orphan drugs.”
Consult the Pubmed abstract

 


 
Grants
 

 
SWISS BRIDGE AWARD 2016
 
Swiss Bridge is a private foundation associated with the Swiss Cancer League, the Swiss Cancer Research foundation and the Union for International Cancer Control (UICC), and supports high-quality cancer research in Europe. This year, on the occasion of the 20th anniversary of the Swiss Bridge foundation, funding is provided for investigators who have made outstanding contributions in the field of rare cancers* (preference will be given to young investigators**). Investigators from academic and cancer research institutions in Europe are invited to submit a note of intent for a new cancer research project before 30 April 2016.
For further information

 
Medical Research Grant Application Guidelines : Progeria Research Foundation
 
The foundation is proving several grants such as Innovator Awards, Established Innovator Award, and Specialty Award. Details are provided on their website
 
AFM Telethon: Call for proposals
 
Several call for proposals are being made available by AFM Telethon. They have published a call for proposals for Spinal Muscular Atrophy and Collagen VI Call for Projects.
For further information

 
Kindness for Kids Health Care Award
 
Kindness for kids will award a maximum of 40,000 euros for the implementation of a project that aims to directly improve the situation of children living with a rare disease through structural changes or with a new therapeutic approach in the area of physiotherapy and psychological care.
For further information

 
The Jerome Lejeune Foundation
 
If you are a researcher investigating intellectual disability from genetic origin appearing in early childhood, the Scientific Advisory Board of the Jerome Lejeune Foundation invites you to submit your research project aiming at deciphering the pathophysiology of the cognitive deficits of patients, especially those with trisomy 21 (Down syndrome) and other rare abnormalities such as fragile X, cri du chat, Rett, Williams-Beuren, Prader-Willi, Angelman, and other syndromes, excluding autism. Grants are offered for one or two year(s) within the range of EUR 20 000 per year. Clinical projects could benefit from more funding. Deadline: 7 March, 2016
For further information

 
DEBRA Research project grants
 
DEBRA has announced a call for research project grant proposals to improve our understanding of the biology and genetics of all forms of Epidermolysis Bullosa (EB), as better understanding can lead to new approaches to diagnose and treat EB. DEBRA International welcomes proposals for co-funding with other organisations, including government, academia, industry or other charities. Please send an electronic copy by e-mail to the DEBRA International Office and one signed hardcopy posted to the address on the website. The deadline for submission is 1 April 2016.
For further information

 
Offer for financing research on Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)
 
The Ataxia of Charlevoix-Saguenay Foundation offers annual research fellowships that will lead to a treatment for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). A maximum of $100,000 could be awarded for a period of one year and could be renewed for a second year by way of a new application. Applicants must e-mail the completed form (including annexes) at the latest the day of the competition deadline to the following address: sgobeil@ctf.ca. Application deadline: May 20, 2016
For further information

 


 
Courses & Educational Initiatives
 

 
European Cytogenetesists Association
 
Date: February/March of each year
Venue: Nimes, France

This course 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. The students will be trained to identify genetic abnormalities for diagnosis and prognosis, and for fundamental and applied research using both classical and molecular cytogenetic techniques. The course is co-organized by E.C.A. and two French Universities, either as a stand-alone course with only the theoretical part or as a University Diploma including both theoretical and practical training. An application for CME points will also be made for 2016.
For further information

 
Courses offered by Recordati Rare Diseases Foundation
 
The Recordati Rare Diseases Foundation is offering five courses planned for next year. For further information, please contact Cecilia Kellquist, Coordinator and member of the board, ckellquist@rrdfoundation.org/www.rrdfoundation.org.

2nd Asia Pacific course: paediatric neurometabolic and movement Disorders Date: 10- 12 June, 2016
Venue: Taipei, Taiwan

Metabolic myopathies course Date: 3-5 November, 2016
Venue: Paris, France

 
Genomics of Rare Diseases: Beyond the Exome
 
Date: 13-15 April, 2016
Venue: Cambridge, United Kingdom

Genomics of Rare Disease: Beyond the Exome will present an exciting blend of genomic science and clinical medicine. This conference provides an excellent forum for clinicians and scientists interested in human genomic variation and the mechanisms by which it exerts its phenotypic effects.
For further information

 
ExPRESS 2016 Expert Patient and Researcher EURORDIS Summer School
 
Date: 6-10 June, 2016
Venue: Barcelona, Spain

Patients are taking on ever increasing roles in advocating for medicines development, equal access to treatments across Europe and ensuring that medical information is clear, accurate and comprehensible. In order to help preparing them for these roles and as part of its commitment to empowering people living with rare diseases, EURORDIS launched its own training programme for expert patients in 2008.

The programme has online and face-to face components. The face-to-face portion trains 40 expert patients annually as part of an intensive 4.5 day course.
For further information

 
4th Rare Diseases Summer School
 
Date: 13–15 July, 2016
Venue: Zurich, Switzerland

The 4 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 initiated research, ethical considerations, as well as what rare diseases may tell us about common diseases. The application deadline is March 31 2016.
For further information

 


 
What's on Where?
 

 
13th International Congress of Human Genetics (ICHG) 2016
 
Date: 3-7 April, 2016
Venue: Kyoto, Japan

Hosted by the East-Asian Union of Human Genetic Societies (EAUHGS) and the Japan Society of Human Genetics, the 13th ICHG will focus on progress in genome analysis technologies and big data in order to explore disease mechanisms and treatment opportunities. Registrations open in 2015.
For further information

 
Lysogene to Host First–Ever Research Symposium Dedicated to GM1 Gangliosidosis
 
Date: 9 April, 2016
Venue: Florida, United States

Lysogene nnounced its sponsorship of the first-ever scientific workshop focused solely on GM-1 gangliosidosis (GM1) research for families and others with an interest in the disorder. GM-1 is a severe rare lysosomal storage disorder with a birth prevalence estimated at 1 per 200,000. A live broadcast will be openly available on NTSAD’s YouTube channel and will be accessible through the NTSAD, Cure GM1 Foundation and Lysogene websites.
For further information

 
5th International Conference on Myelodysplastic Syndromes
 
Date: 14-16 April, 2016
Venue: Estoril, Portugal

For further information

 
8th Alstrom Syndrome International Conference
 
Date: 12-16 May, 2016
Venue: Massachusetts, USA

This international conference will have a scientific symposium for clinicians and researchers as well as sessions for parents, caretakers and patient organisations.
For further information

 
H2020 European Health/Rare Diseases Brokerage Event
 
Date: 12-13 May, 2016
Venue: Oslo, Norway

Here you can get information on the new Horizon 2020 « Health, Demographic change and Wellbeing » 2016-2017 calls dedicated to rare diseases. You can also get the chance to present your innovative project to the participants Meet potential partners from Europe and beyond and start building your consortium.
For further information

 
17th EMSOS Nurse and Allied professional Group Meeting
 
Date: 12-16 May, 2016
Venue: Massachusetts, USA

The meeting will be focussing on Ewing sarcoma, margins, pelvic tumours, targeted therapy; open sessions will offer the opportunity to report and discuss the latest results in all fields.
For further information

 
ECRD 2016 : The European Conference on Rare Diseases & Orphan Products
 
Date: 26-28 May, 2016
Venue: Edinburgh, United Kingdom

The ECRD is the only event which, from its small beginnings, has united all rare disease stakeholders from all European nations- patients and patient representatives, healthcare professionals and researchers, industry, payers, regulators and policy makers alike- in the fight against rare diseases. The ECRD now brings together over 80 speakers and more than 800 participants, covering six themes of content over two days: from the latest research, to developments in new treatments, to innovations in healthcare, social care and support at the European, national and regional levels.
For further information

 
39th European Cystic Fibrosis Conference
 
Date: 8-11 June, 2016
Venue: Basel, Switzerland

The European Cystic Fibrosis Society is an international community of scientific and clinical professionals committed to improving survival and quality of life for people with CF by promoting high quality research, education and care.
For further information

 
21st International Waldenstroms Macroglobulemia Foundation Ed Forum
 
Date: 10-12 June, 2016
Venue: Rhode Island, United States

The theme this year is Imagine a Cure: Pathways to Progress to highlight the exciting Strategic Research Roadmap Initiative recently begun by the IWMF and the Leukemia & Lymphoma Society. The Ed Forum presents an excellent opportunity to hear about the latest in research and treatments.
For further information

 
International Meeting on Spastic Paraparesis and Ataxias
 
Date: 23-25 June, 2016
Venue: Paris, France

The fifth international meeting on spastic paraparesis and ataxias includes plenary talks from leaders in the field of spinocerebellar diseases (dominant and recessive forms of cerebellar ataxias and spastic paraplegias) and short talks or poster presentations from junior researchers.
For further information

 
12th European Working Group on Gaucher Disease 2016 meeting
 
Date: 29 June-2 July, 2016
Venue: Zaragoza, Spain

This conference will be attended by international stakeholders in Gaucher disease and is an excellent opportunity to get information on advances towards better research and treatment.
For further information

 
FEPS 2016
 
Date: 13-14 July, 2016
Venue: Bonn, Germany

The symposium will be a privileged moment to demonstrate through various examples and discuss the pivotal role of Physiological sciences in the discoveries related to rare inherited diseases.
For further information

 
14th MPS Symposium
 
Date: 13-14 July, 2016
Venue: Bonn, Germany

In this symposium you get informed about the latest developments in research on the metabolic disease MPS and related lysosomal storage diseases. It is a great forum for discovering what is new in the field of metabolic diseases research.
For further information

 
3rd European Aniridia Conference
 
Date: 27-28 August, 2016
Venue: Duisurg, Germany

Goal of the scientifical conference is an increase in knowledge about aniridia and broadening of network between researcher, doctor and scientists on a european scale to enhance the exchange between each other as well as developing future scientific research projects on aniridia as a joint effort.
For further information

 
27th European Dysmorphology Meeting
 
Date: 8 -9 September, 2016
Venue: Le Bischenberg

The meeting offers ample opportunities for exchanges and discussion. This is facilitated by the unique setting of the Workshop and the friendly atmosphere. The workshop program includes 88 platform presentations.
For further information

 
European Association of Centres of Medical Ethics Conference
 
Date: 8 -10 September, 2016
Venue: Leuven, Belgium

The focus of this year’s conference is on a variety of highly relevant ethical issues in health care:
 Organizational Ethics in Health Care: Principles, Cases and Practical Solutions
 Ethical Issues in Care for Older Persons
 Ethical, Legal and Social Developments in Human Genomics
 Ethics and Integrity in Research
For further information

 
2nd International Conference on New Concepts in B Cell Malignancies
 
Date: 9-11 September, 2016
Venue: Estoril, Portugal

This conference aims at improving the understanding of the:
• principles and current developments of molecular pathogenesis of Bcell disorders
• the range of prognostic markers and their impact in specific clinical situations
• evolution of treatment principles in Bcell malignancies
• development of promising new agents targeting disease biology
• to improve understanding of key pathways driving expansion of normal vs. neoplastic Bcells
For further information

 
55th ESPE Annual Meeting
 
Date: 10-11 September, 2016
Venue: Paris, France

The theme of the meeting will be “Horizons in Paediatric Endocrinology” to capture the evolutionary and self-renewing nature of our specialty. The theme will also help evaluate the new challenges for paediatric endocrinology and discuss new and old medical, scientific and organisational paths.
For further information

 
9th ISNS International meeting/10th ISNS European Regional meeting
 
Date: 11-14 September, 2016
Venue: The Hague, the Netherlands

The conference will aid the sharing of neonatal screening experiences for congenital metabolic disorders, its clinical diagnostics and follow-up, and will facilitate learning from other experiences. The programme will consist of plenary lectures, oral presentations and poster sessions and will be attractive for professionals, patient/advocacy groups, policy makers and industrial partners. The programme will include evaluation of performance of neonatal screening systems and strategies for improvement.
For further information

 
The 50th anniversary of the first publication on Rett Syndrome
 
Date: 15-17 September, 2016
Venue: Vienna, Austria

This conference is open to patients, clinicians, scientists, researchers and other healthcare professionals. Keynote lectures, oral presentations and posters aim at outlining History, (R)Evolution in Rett Syndrome, State of the Art, future trends and developments.
For further information

 
Rare metabolic disorders: detection, research, management and treatment
 
Date: 20-22 September, 2016
Venue: London, United Kingdom

This conference will discuss rare metabolic disorders, their detection, current research, disease management and treatment.
For further information

 
European Paediatric Stroke Symposium 2016
 
Date: 21-22 September, 2016
Venue: Lyon, France

The aim of this symposium is to address challenges of these conditions from a plural point of view, and to bring together multilateral experts in the field to reach high-level scientific discussions.
For further information

 
5th World Congress of Clinical Safety
 
Date: 21-23 September, 2016
Venue: Massachusetts, USA

The Boston Congress is organized by IARMM to improve and promote high advanced safe and clean science and technology. The congress covers a wide range of safety topics, such as clinical safety (patient safety, medication safety, medical device safety), infectious disease outbreak, disaster healthcare, clinical crisis governance, environmental helth & safety, food safety, and other related safety subjects.
For further information

 
ESID European Society for Immunodeficiencies: Biennial meeting
 
Date: 21-24 September, 2016
Venue: Barcelona, Spain

Sessions at this meeting will be devoted to understanding primary immunodeficiencies and their clinical aspects.
For further information

 
Alstrom Syndrome Europe (AS EU) ‐ 4th European Conference
 
Date: 10 October 2016
Venue: Vigo, Spain

Alstrom Syndrome Europe (AS EU) ‐ 4th European Conference aimed at medical and scientific professionals. Hosted by Professor Diana Valverde, in Vigo, Spain, Monday 10th October 2016. Contact AS EU Managing Director kay.parkinson@alstromsyndrome.eu

 
RareX featuring ICORD 2016
 
Date: 19-22 October 2016
Venue: Cape Town, South Africa

ICORD, Rare Disease International and the Rare Disease Society of South Africa invite you to ICORD 2016 in Cape Town, South Africa. Taking place in the context of Rare Diseases Week 2016, this is the first time that ICORD will be held in Africa. Join us and contribute to a legacy of prevention, treatment and study of rare diseases in Africa and around the world.
For further information

 
Cambridge Rare Disease Network (CRDN) 2nd annual International Rare Disease summit
 
Date: 25 October 2016
Venue: Cambridge, England

This event is aimed at key stakeholders from the International rare disease community, also hosting in parallel a "Round Table of Companies" meeting to initiate a rare disease joint funding strategy. Contact CRDN Events Director jo@camraredisease.org


 
Commercial events


 
6th Annual World Orphan Drug Congress
 
Date: 21-22 April, 2016
Venue: Barcelona, Spain

Workshops range in topic from market forecasting to pricing & reimbursement, R&D, commercialization, marketing and treatment. You can choose from 8 half day workshops or 2 full-day seminars.
For further information

 
The Orphan Drugs Summit
 
Date: 21-23 September, 2016
Venue: Amsterdam, The Netherlands

Highlights include fast changing national and regional regulations, clinical trial design, patient registries & stakeholder engagement, partnering and establishing financing for future development, establishing a balanced and sustainable pricing and reimbursement foundation, achieving an efficient and timely access to market with equal access for patients around the world.
For further information

 


 
OrphaNews, The Newsletter of the Rare Diseases Community.
OrphaNews is supported by the European Commission's DG SANTE ( RD-ACTION Joint Action N° 677024) and the French Muscular Dystrophy Association (AFM)
Editor-in-chief: Kate Bushby, Ana Rath
Editor: Divya Unni
Editors for Scientific Content: Sophie Höhn
Contact Us
Editorial Board: Valentina Bottarelli, Victoria Hedley, Yann Le Cam, Stephen Lynn, Charlotte Rodwell, Domenica Taruscio, Ariane Weinmann

Advisory Editorial Board: Ségolène Aymé, Anna Bucsics, Paul Boom, Bruno Dallapiccola, Jordi Llinares-Garcia, Adam Heathfield, Alastair Kent, Dominique Péton-Klein, Milan Macek, Till Voigtländer

INTERNATIONAL CORRESPONDENTS
Orphanet Partner Country Representatives: Romi Armando (Argentina), Kristine Hovhannesyan (Armenia), Hugh Dawkins (Australia), Till Voigtlander (Austria), Rumen Stefanov (Bulgaria), Micheil Innes (Canada), Ingeborg Barisic (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek (Czech Republic), John Rosendahl Ostergaard (Denmark), Vallo Tillmann (Estonia), Sirpa Ala-Mello (Finland), Joerg Schmidtke (Germany), Eileen Treacy (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), Paul Nogueira (Portugal), Cristina Rusu (Romania), Dragica Radojkovic (Serbia), Laszlo Kovacs (Slovakia), Luca Lovrecic (Slovenia), Francesc Palau (Spain), Désirée Gavhed (Sweden), Loredana D'Amato Sizonenko (Switzerland), Dorra H'mida (Tunisia), Ugur Ozbek (Turkey), Sarah Stevens (UK)
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The content of newsletter represents the views of the Editorial Board only and is his/her sole responsibility; it cannot be considered to reflect the views of the European Commission and/or the Consumers, Health, Agriculture and Food Executive Agency or any other body of the European Union. The European Commission and the Agency do not accept any responsibility for use that may be made of the information it contains.

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