17 March 2015 print
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EURORDIS awards excellence in the rare disease community

To honour excellence in the field of rare diseases, EURORDIS awards key players at the Black Pearl Gala every year, as part of Rare Disease Day commemorations. This year the EURORDIS Awards were presented to distinguished individuals and organisations dedicated to the betterment of the rare disease community.

Lifetime Achievement Award
Ms Abbey Meyers

Ms. Meyers is the founding member of the National Organisation of Rare Diseases (NORD) which is celebrating its 32nd year this year. She was forced to start this organisation after the painful diagnosis of her sons Tourette Syndrome. Her activism led to the formation of NORD which plays an active role in advancing the cause of rare disease patients in United States, which has been an inspiration for many patient organisations over the world.

European Rare Disease Leadership Award
Professor Josep Torrent-Farnell

Prof. Torrent-Farnell was presented the leadership award for working as a tireless advocate for the patient voice. As the former Director General of the Fundació Doctor Robert, Advanced Centre of Services and Training for Health and Life Sciences, he was able to introduce a rare disease focus and impact the lives of many in Spain. Prof. Torrent-Farnell joined the newly established European Medicines Agency (EMA) as Principal Scientific Administrator in 1995 and as the first Chair of the Committee for Orphan Medicinal Products (COMP) introduced many aspects of patient involvement in the EMA that are relevant till date.

Policy Maker Award
Mrs Glenis Willmott

As a Labour Member of the European Parliament for the East Midlands and three-time re-elected leader of the European Parliamentary Labour Party, Mrs Willmotts work towards better policy for rare disease patients has been relentless. She played a vital role in the passing of key legislation through her work as Rapporteur for the Regulation on Clinical Trials on medicinal products for human use and as Shadow Rapporteur for the Regulation towards establishing the Health for Growth Programme. These two pieces of EU legislation continue to have a tremendous positive impact on the lives of people living with a rare disease in Europe.

Volunteer Award
Ms Rosa Sánchez de Vega

Even though Ms Sánchez de Vega has faced many challenges as a rare disease patient herself, she has channeled all her energy towards helping other rare disease patients. She founded the Spanish Aniridia Association in 1996, going on to co-found the Spanish Alliance for Rare Diseases (FEDER), and is currently serving as President of the European Federation of Aniridia, Aniridia Europe. She is an inspiration to many as she has put her needs second to the needs of the various voiceless rare disease patients and served the community enthusiastically.

Media Award
Mr Peter O'Donnell

Currently working as an Associate Editor of European Voice, Peter O’Donnell is a prominent writer and editor in the rare disease field. He is an influential voice as he provides information to the general public about the trials and tribulations of the rare disease patients. Mr. O’Donnell continues to be active in the rare disease community, demonstrating commitment and passion towards the cause of rare disease patients. Just recently he spoke at the Lunch Debate on Data Protection at the European Parliament.

Patient Organisation Award
Children with SMA accepted by Mr Vitaliy Matyushenko

Children with SMA is a non-profit foundation which has undertaken the incredibly difficult mission of supporting those affected by, or involved with, Spinal Muscular Atrophy (SMA) in Ukraine. Children with SMA endeavours to promote knowledge around the disease and encouraging dialogue between legislators, researchers and patients. They have also contributed to the adoption of the law for Rare Diseases in Ukraine and the foundation of the National Alliance.

Scientific Award
Professor Kate Bushby

The Scientific Award was presented to Professor Kate Bushby, the founding co-ordinator of the TREAT-NMD Network of Excellence and a key member of several European projects. She has played a leading role in the European and national rare disease policy area, acting as Vice Chair on the European Union Committee of Experts on Rare Diseases from 2010 to 2013 and still acts in the capacity of invited expert on the new Commission Expert Group on Rare Diseases. This award recognises her outstanding achievements in inherited neuromuscular diseases research and her commitment to patients.

Company Award
Pfizer's Rare Disease Research Unit

To recognise the role major pharmaceutical companies play in the development of, and ensuring access to, innovative treatments for rare disease patients, Pfizer has been presented the Company Award. In 2010, Pfizer established its own Rare Disease Research Unit, with the objective of taking an innovative and collaborative approach to the development of new medicines across the spectrum of rare diseases. The current pipeline includes clinical and pre-clinical programmes in several rare diseases. Pfizer has 22 approved products to treat rare diseases worldwide including 4 in Europe.
More information on the EURORDIS website
Photo Courtesy: EURORDIS

EU Policy News
Mitochondrial replacement therapy passes the vote of the House of Lords in the UK
After the Members of Parliament in the United Kingdom approved the legislation to licence certain clinics to perform mitochondrial replacement therapy (Read in OrphaNews), the House of Lords have also granted their consent. Clinics in UK can now apply for licences to provide this therapy.

Annual report on Small and Medium Enterprise reflect increased use of EMA resources
The European Medicines Agency (EMA) recently published an update on the activities of small and medium-sized enterprises (SMEs). The update analysed whether the initiatives provided by the EMA launched in 2005 have been utilised by the SMEs and if they have been fruitful. The report demonstrates that an increasing number of SMEs holders of marketing authorisations have started to register with the EMA in order to benefit from incentives, which will apply to micro, small and medium sized enterprises further to implementation of the pharmacovigilance fee regulation. The update recommends early dialogue with interactions at major milestones with the EMA to reduce the possibility of clinical failure at marketing authorisation review. The EMA points to compliance with advice as an important factor to increase chances of a positive review.

The EMA believes that "the uptake of scientific advice by SMEs is now significant and it is encouraging to note an increased number of SMEs utilising a broader range of regulatory scientific advice services such as biomarker qualification".
Read the SME 2014 report


National & International Policy Developments
Other European news
European Commission action on rare diseases fact sheet
The European commission has also released a fact sheet of EU action on rare diseases on the event of rare disease day. In recognition of the significant impact of such diseases on sufferers, their families and carers, the European Commission describe the integrated approach taken to improve access and equity towards prevention, diagnosis and treatment of these patients throughout the European Union. The factsheet illustrate EC actions in several areas important to rare disease patients such as:
• Supporting actions for an early diagnosis
• Supporting European research for better understanding and treatment of rare diseases
• Incentivising pharmaceutical companies
• Establishing a European platform on rare diseases registration
• Helping the organisations that support patients
• Assistance and support for member states’ efforts
• Gathering the best expert advice
• Supporting projects
Read EC fact sheet

Cost minimisation an important factor for reimbursement recommendation in Scotland
Value in Health has published a study that identifies the factors influencing the Scottish Medicines Consortium (SMC) to decide which pharmaceutical technologies will be acceptable for use within the Scottish healthcare system. The SMC provides a central reimbursement recommendation to NHS Scotland, based on the clinical and economic evidence provided by the manufacturer on the basis of the value for money it represents. The study investigated the weight that different pieces of evidence, submitted to the SMC for reimbursement assessment, have on the final recommendation decision by the SMC.

This study demonstrated that the outcome of cost-effectiveness analyses is the most important factor to affect the SMC’s reimbursement recommendation decision. Thus the authors recommend that "the pricing of the product (including orphan-designated products) should be carefully considered by the manufacturer on the grounds of the implications that the price may have on the reimbursement recommendations of its product". The other variables included whether the submission was related to a product indicated for a nervous system disease, whether it was indicated for non chronic use, and whether the submission was performed by a big company. It was also found that an active-controlled trial is preferred over the placebo one and an application submitted by big pharmaceutical companies had a higher chance of acceptance for use.
Access the abstract

NHS England issues proposal to redesign of genomic laboratory services
The National Health Service England is seeking comment from stakeholders on a proposed redesign of genomic laboratory services in England, which are detailed in a document posted on NHS England's website.

NHS England is proposing a switch from the old model of provision of all genetics services via laboratories tied to specialist clinical genetics services, to a new and broader, tiered model comprising:
1. Genomics England Sequencing Centre (GESC)
2. Genomics Central Laboratory Hubs (GCLH)
3. Genomics Local Laboratory Hubs (GLLH)
The centres will provide testing for patients with rare inherited disorders, sporadic genetic disorders, and cancer, as well as genomic profiling for personalised medicine. Also included will be non invasive prenatal testing. They will interpret variants from whole-genome or exome sequencing, develop quality standards for genomic data used for clinical diagnostics, and validate new genomic diagnostic tests and technologies.

The 12-week consultation period on the proposal ends on April 14 inviting comments from stakeholders as well as the public at large.
Read the document posted on NHS England's website

Other International News
Ontario to provide 'interim' funding for Soliris
In Canada, the Ontario government will now provide patients with atypical Hemolytic Uremic Syndrome (aHUS) interim funding for the expensive drug treatment – Soliris. aHUS is a progressive disease that causes the formation of blood clots throughout the body, which can lead to stroke, heart attack and kidney failure. The disease can affect both adults and children, and is often linked to genetics.The Ontario government announced Wednesday it would begin "interim" funding for patients who meet the clinical criteria for the disease and require the drug Soliris. Soliris is the only available treatment for these patients but is unaffordable for many patients, as it could cost them an upwards of $500,000 peryear. In Canada, Quebec also funds Soliris.
Visit the Ontario Ministry of health and long term care

Institute of Medicine in the United States currently studying the ethical and social implications of mithochondrial replacement therapy
Following the approval of legislation to license clinics to perform mitochondrial replacement therapy in the United Kingdom, United States may now be following suit. The US Food and Drug Administration (FDA) requested the Institute of Medicine (IOM) to produce a “consensus report regarding the ethical and social policy issues related to genetic modification of eggs and zygotes to prevent transmission of mitochondrial disease”. Subsequently, IOM set up a committee which plans to meet approximately five times over the course of the study. The first committee met in January 2015, the second is expected to be in March 2015, which will include a 2 day public workshop in addition to a closed committee session. The third committee will meet in May 2015, which will include a public comment session with two closed committee meetings, during which the committee will draft and finalise the final report. OrphaNews will provide readers with information on the proceedings of these meeting as they become available. You can also receive updates from the IOM website .
NHGRI of the United States updates online resource on informed consent for genomics research
The online Informed Consent Resource (ICR) was introduced in 2009 by the National Human Genome Research Institute (NHGRI) with an aim to help researchers across the globe to navigate the informed consent process. An updated ICR is now available, which incorporates current advances in genomic technology. According to NHGRI, “the updated ICR explores a range of important topics for researchers, including the scope of consent, sample and data storage, return of results, research involving children, and privacy and confidentiality”. It also includes examples and information to guide researchers through the complex consent issues that arise in genetic and genomic research.
More information on the NHGRI website

Guidance Documents and Recommendations
Fanconi anemia: recommendations for screening and treatment for endocrine disorders
Consult the Pubmed abstract
To read more about "Fanconi anemia"

J Clin Endocrinol Metab. ; 100(3):803-11 ; March 2015
Bioinformatics, Registries and Data Management
GeneYenta: tinder for rare disease patients
When working with cases of rare genetic disorders, finding similar individuals can be extremely difficult. Inspired by online dating services, an article published in Human Mutation describes GeneYenta, a proof of concept website that allows clinicians to coordinate detailed comparisons for phenotypically similar cases thus facilitating the matchmaking process. Data is entered based on the Human Phenotype Ontology (HPO) with user specified weights for feature importance where each case is assigned a phenotypic match score to other entered cases for comparison. The user can view related matches who they can choose to collaborate with through interactions external to the system. This platform has been built with the aim to "facilitate the discovery of rare disease genes and the diagnosis of patients with similar genetic disease".

The authors also refer to another portal - Matchmaker Exchange, that tackles the problem of data exchange of genetic data of patients with rare diseases and includes many rare disease consortia around the world. The authors believe that exome data in this portal is often not available for ethical and confidentiality reasons, due to which cases may be stalled in genetics clinics. The author believes that “GeneYenta provides a lightweight solution to this problem by allowing researchers, who have limited time to share non-personally identifying phenotype patient information with other researchers worldwide”.

The prototype GeneYenta web tool is available at https://geneyenta.com

Uncovering disease-disease relationships through the incomplete interactome
An article published in Science presents a network-based framework to identify the location of disease modules within the interactome - a network integrating all interactions within a cell – to understand and predict disease modules relationships. According to the authors a complete and accurate map of the interactome, which could have tremendous impact on our ability to understand human disease at a molecular level, is at least a decade away.

The authors in this article show that the current data from an "incomplete interactome" may be able to map out some disease module relationships using network science. The authors demonstrate that the “network-based location of each disease module determines its pathobiological relationship to other diseases, where associated disease models segregate in the same neighbourhood of the human interactome”, whilst unrelated modules form in different neighbourhoods. The authors believe that the proposed network-based distance allows us to envisage the relationships between diseases even if they do not share genes. The authors believe that the study is significant as “the introduced network-based framework can be extended to address numerous questions at the forefront of network medicine, from interpreting genome-wide association study data to drug target identification and repurposing”
Access the abstract


Ethical, Legal & Social Issues
Cure Black Bone Disease: Donate generously!
Black Bone Disease is also known as alkaptonuria (AKU) is a genetic disease caused by a build-up of acid in the body which attacks bones and other tissue, turning it black and brittle. The AKU society is currently helping to fund a big clinical trial across Europe to test a promising drug for Black Bone Disease. This drug is called nitisinone, and, if it is given at the correct age, it could prevent all of the damage caused by the disease. For patients with Black Bone Disease, this would be life changing. This crowdfunding campaign is to help patients attend the clinical trial for a drug that they desperately need.

The first crowdfunding campaign launched in 2013 by the AKU society was an incredible success, as the money collected helped pay for patient travel and accommodation, and it provided consistent support to patients before, throughout, and after each visit.They have just finished recruitment for a big trial, with over 135 patients taking part - a fantastic achievement for such a rare disease! The next step of the clinical trial, is to determine the best age to give this drug. Given too early the drug could potentially cause side effects harmful to children. Given too late, and the debilitating damage caused by Black Bone Disease will have already set in. The current crowdfunding campaign will allow the AKU society to fully support about 15 patients to attend the trial.
Please donate generously as AKU patients all over the world are counting on you!

The labyrinth of patenting human embryonic stem cells
Until recently, both the European Patent Office (EPO) and the Court of Justice of the European Union (CJEU) had separately ruled on cases restricting the patentability of inventions based on human embryonic stem cells (hESCs). An editorial published in Nature Biotechnology describes the cases brought forth by Brüstle (to CJEU), Wisconsin Alumni Research Foundation and Technion (to EPO) on patenting hESCs. All of which were different in nature, but ultimately they decided that any invention based on destroying hESCs, no matter how, when or where the destruction took place, were not subject to patentability.

Although a previous patent applied by WARF on hESCs was quashed by the EPO in 2008, there was still the possibility of patenting hESCs derived from cell lines. However, in the Brüstle v. Greenpeace case, the CJEU decided that patent applications that require prior destruction of the human embryos or their use as a base material would also be refused. This broad refusal to patent hESCs was solidified by the decision of the Technical Board of Appeal of the EPO in 2014 to deny Technion Research and Development the patent for a "cell culture comprising both human foreskin cells and hESCs as well as on methods of maintaining hESCs in an undifferentiated state". Thus the authors note that the rulings in these cases ultimately do not favour patentability of inventions based on destroying hESCs, no matter how, when or where the destruction took place.

The article also illustrates the positive and negative aspects of hESC patent exclusions on hESC research as well as suggestions for companies invested in hESC research.
Access the article through the Nature Biotechnology website

Europe amends its decision on patenting hESCs

However in December last year, the CJEU has overturned its decision to forbid the patenting of ES cells made from 'parthenote' eggs (chemically fertilised eggs). The International Stem Cell Corporation has been granted patents for methods to generate corneal tissue from ES cells that had been made from egg cells, or ova, through parthenogenesis. By ruling favourably on patenting parthenote cells, CJEU has reversed its view on the general ban on obtaining patents for human embryonic stem (ES) cells, mentioned in the article above. The United Kingdom, who initially refused to patent these parthenote cells are yet to overturn their judgement.
Read the CJEU press release on this judgement

The battle to patent the genome editing technology CRISPR-Cas9
The clustered, regularly interspaced, short palindromic repeat (CRISPR) technology guided by the RNA nuclease- Cas9 - an emerging genome editing technology - has shown therapeutic potential in cell lines and animal models for monogenic diseases and cancer. Researchers and pharmaceutical companies have been keen on pursuing this versatile and effective technology to uncover its potential to develop common and orphan medicines.

Two articles published in the patent section of Nature Biotechnology, describe the current patenting intellectual property situation surrounding the CRISPR-Cas9 technology.

The article titled Who owns CRISPR-Cas9 in Europe, highlights that while Broad Institute and the Massachusetts Institute of Technology (called the Zhang patent) have received patenting rights for CRISPR-Cas9 in the US, the European Patent Office (EPO) has not yet reached a substantive outcome in this matter. After the filing of the Zhang patent application, the EPO has received third parties letters disputing the novelty and inventive step of this patent. Among other arguments, the third parties peg Jennifer Doudna and Emmanuelle Charpentier as inventers of the CRISPR-Cas9 technology and their publication Jinek et al. as the closest state of the art. The author believes that it will take about 3 to 5 years for EPO to deliver their judgement and it is likely that there will be more than one relevant patent in Europe, leading to a commercially unattractive patent thicket. The author advices careful assessment of legal and commercial options before employing this promising technology.

Could precedents provide a solution?

The article titled Law, history and lessons in the CRISPR patent conflict, describes how precedent and law will affect how the CRISPR-Cas9 technology will be allowed to proceed. The author describes how currently, apart from the Zhang and Doudna/Charpentier patent, more than a dozen new patents and 100 patent applications have claimed or described applications for the CRISPR-Cas9 system. The author expresses concern over these challenges as they may be potentially damaging to the progression of this science. However, the author also provides instances, such as the Stanford University’s management of the Cohen-Boyer patents on recombinant DNA, Massachusetts Institute of Technology’s ‘Tuschl patents’ on siRNA technology and the PCR patents, where appropriate and user-specific combination of enforcement and licensing lead to advancement of technology that could have been hindered.


Orphanet News

Orphanet Reports Series update on Registries and Research Infrastructures useful to Rare Diseases in Europe
Patient registries and databases constitute key instruments to develop clinical research in the field of rare diseases, to improve patient care and healthcare planning. Additionally, registries of patients treated with orphan drugs are relevant as they allow post marketing authorisation monitoring. An updated report of the Rare Disease Registries in Europe on the information collected by Orphanet so far, on registries collecting data for a specific disease or a group of diseases is now available online.
Rare Disease Registries
Also updated is the List of research infrastructures useful to rare diseases in Europe. This includes a description of 39 centres across 10 European countries.
Research Infrastructures useful to Rare Diseases in Europe


New Syndromes

New syndrome of 20q11.2 microdeletion described in six patients
To date, only six patients carrying a proximal 20q11.2 deletion have been reported. Intellectual disability, craniofacial dysmorphism, anomalies of the extremities and feeding difficulties are recurrent clinical features in these patients, suggesting a recognizable microdeletion syndrome. The authors studied six new patients harbouring a de novo 20q11.21-q11.23 microdeletion and presenting with a suggestive phenotype. GDF5, EPB41L1, and SAMHD1 are strong candidates for different aspects of the phenotype.
Consult the Pubmed abstract

Am J Med Genet A. ; 167(3):504-11 ; March 2014
Microduplication of chromosome Xq25 encompassing STAG2 gene in a boy with intellectual disability
Recently, small duplications involving the Xq25 region have been reported. The authors reported a 4-year-old boy with a duplication at Xq25 encompassing STAG2. The patient presented with intellectual disability, speech delay, dysmorphic features and a small ear deformity, features partially consistent with published cases.
Consult the Pubmed abstract

Eur J Med Genet. ; 58(2):116-21 ; February 2015
Autosomal recessive infantile neurodegenerative mitochondrial disorder due to ISCA2 mutation in six patients from five unrelated consanguineous families
The authors studied six patients from five unrelated consanguineous families presenting an autosomal recessive syndrome causing leukodystrophy and neuroregression. They identified a homoallelic missense founder mutation in ISCA2.
Consult the Pubmed abstract

J Med Genet. ; 52(3):186-94 ; March 2014
Novel congenital microcephaly malformation syndrome caused by CENPF mutations
The authors identified a non-consanguineous Caucasian kindred with four affected foetuses exhibiting mid-gestation lethality and dysmorphic craniofacial features. Autopsy findings revealed ciliopathy features, such as cerebellar vermis hypoplasia, corpus callosum agenesis, cleft palate, duodenal atresia and bilateral renal hypoplasia. Two novel variants in CENPF were identified. Two CENPF mutations were also found in another unrelated patient exhibiting microcephaly.
Consult the Pubmed abstract

J Med Genet. ; 52(3):147-56 ; March 2014

New Genes

Infantile achalasia is associated with truncating homozygous mutation in NOS1 in two siblings
Consult the Pubmed abstract
Gastroenterology ; 148(3):533-536 ; March 2015
Bartsocas-Papas syndrome caused by mutations of IRF6 and CHUK
Consult the Pubmed abstract
To read more about "Bartsocas-Papas syndrome"

Am J Med Genet A. ; 167(3):545-52 ; March 2015
Nodular sclerosis classical Hodgkin lymphoma associated with B2M deficiency
Consult the Pubmed abstract
To read more about "Nodular sclerosis classical Hodgkin lymphoma"

Blood ; 125(7):1061-72 ; February 2015
Cole-Carpenter syndrome might be caused by a homozygous pathogenic mutation in CRTAP
Consult the Pubmed abstract
To read more about "Cole-Carpenter syndrome"

Am J Med Genet A. ; 167(3):587-91 ; March 2015
Association between susceptibility to Kawasaki disease and genomic hypomethylation of FCGR2A
Consult the Pubmed abstract
To read more about "Kawasaki disease"

Arthritis Rheumatol. ; 67(3):828-36 ; March 2015

Research in Action

Clinical Research
Huntington disease: peripheral blood is a useful source to identify biomarkers and monitor disease progression
Consult the Pubmed abstract
To read more about "Huntington disease"

Eur J Hum Genet. ; [Epub ahead of print] ; January, 2015
Sandhoff disease: treatment with miglustat and a ketogenic diet improves patient’s seizure control and cardiac function
Consult the Pubmed abstract
To read more about "Sandhoff disease"

Eur J Med Genet. ; 58(3):180-3 ; March 2015
Gaucher disease type 1: treatment with eliglustat results in significant improvements in spleen and liver volume, hemoglobin level, and platelet count
Consult the Pubmed abstract
To read more about "Gaucher disease type 1"

JAMA ; 313(7):695-706 ; February 2015
Niemann-Pick disease type C: miglustat treatment improves or stabilizes neurological manifestations, at least for a period of time
Consult the abstract
Consult this study on Orphanet

To read more about "Niemann-Pick disease type C"

Orphanet Journal of Rare Diseases ; [Epub ahead of print] ; February 2015
Relapsed or refractory Hodgkin lymphoma: durable remissions in a phase 2 study of brentuximab vedotin
Consult the Pubmed abstract
To read more about "Hodgkin lymphoma"

Blood ; 125(8):1236-43 ; February 2015
Relapsed or refractory diffuse large B-cell lymphoma: brentuximab vedotin demonstrates objective responses in a phase 2 study
Consult the Pubmed abstract
To read more about "Diffuse large B-cell lymphoma"

Blood ; 125(9):1394-402 ; February 2015
Mantle cell lymphoma: replacing vincristine by bortezomib in frontline therapy is more effective but increases hematologic toxicity
Consult the Pubmed abstract
To read more about "Mantle cell lymphoma"

N Engl J Med. ; 372(10):944-53 ; March 2015
Congenital hypothyroidism may result in adverse pregnancy outcomes
Consult the Pubmed abstract
To read more about "Congenital hypothyroidism"

J Clin Endocrinol Metab. ; 100(3):860-9 ; March 2015
Association of achondroplasia with scaphocephaly and other craniosynostoses may be under recognised
Consult the Pubmed abstract
To read more about "Achondroplasia"

Am J Med Genet A. ; 167(3):646-52 ; March 2015
15q11q13 microduplication syndrome: gastrointestinal problems are common and may have an atypical presentation
Consult the Pubmed abstract
To read more about "15q11q13 microduplication syndrome"

Eur J Med Genet. ; 58(3):191-3 ; March 2015
Therapeutic Approaches

Cornelia de Lange syndrome: L-leucine partially rescues translational and developmental defects in zebrafish models
Consult the Pubmed abstract
To read more about "Cornelia de Lange syndrome"

Hum Mol Genet. ; 24(6):1540-55 ; March 2015
Leber congenital amaurosis: genetic deletion of S-opsin prevents rapid cone degeneration in a mouse model
Consult the Pubmed abstract
To read more about "Leber congenital amaurosis"

Hum Mol Genet. ; 24(6):1755-63 ; March 2015
Long-term correction of Sandhoff disease following intravenous delivery of recombinant adeno-associated virus 9 to mouse neonates
Consult the Pubmed abstract
To read more about "Sandhoff disease"

Mol Ther. ; 23(3):414-22 ; March 2015
Angelman syndrome: partial restoration of UBE3A protein in mouse model ameliorates some cognitive deficits
Consult the Pubmed abstract
To read more about "Angelman syndrome"

Nature ; 518(7539):409-12 ; February 2015
Novel pig model of spinal muscular atrophy
Consult the Pubmed abstract
To read more about "Proximal spinal muscular atrophy type 1"
To read more about "Proximal spinal muscular atrophy type 2"
To read more about "Proximal spinal muscular atrophy type 2"
To read more about "Proximal spinal muscular atrophy type 4"

Ann Neurol. ; 77(3):399-414 ; March 2015
Diagnostic Approaches

Kleine-Levin syndrome: differential diagnoses are mostly psychiatric, and less frequently sleep and neurological disorders
Consult the Pubmed abstract
To read more about "Kleine-Levin syndrome"

Ann Neurol. ; 77(3):529-40 ; March 2014

Patient Management and Therapy
Hemophilia A: review on next-generation treatment
Consult the abstract
To read more about "Hemophilia A"

Expert Opinion on Orphan Drugs ; 3(3):245-251 ; March 2015
Hepatocellular carcinoma: review on tivantinib for the treatment
Consult the abstract
To read more about "Hepatocellular carcinoma"

Expert Opinion on Orphan Drugs ; 3(3):343-351 ; March 2015
Amniotic bands: a review
Consult the Pubmed abstract
To read more about "Amniotic bands"

Am J Med Genet A. ; 167(3):478-503 ; March 2015
Smith-Lemli-Opitz syndrome: review on pathogenesis, epidemiology, diagnosis and clinical aspects
Consult the Pubmed abstract
To read more about "Smith-Lemli-Opitz syndrome"

Expert Opin Orphan Drugs ; 3(3):267-280 ; March 2015
Phenylketonuria: review on bone health
Consult the abstract
To read more about "Phenylketonuria"

Orphanet Journal of Rare Diseases ; [Epub ahead of print] ; February 2015
Peripartum cardiomyopathy: review on current management and future perspectives
Consult the Pubmed abstract
To read more about "Peripartum cardiomyopathy"

Eur Heart J. ; [Epub ahead of print] ; January, 2015
Cardiac sarcoidosis: review on epidemiology, characteristics and outcomes
Consult the Pubmed abstract
To read more about "Sarcoidosis"

Circulation ; 131(7):624-32 ; February 2015
Three 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. Three new GeneReviews have been published for:
16p12.2 microdeletion
Fibrous dysplasia/McCune-Albright syndrome
TBC1D24-related disorders

Nine updated GeneReviews have been published for:
Dystrophic epidermolysis bullosa
Autosomal dominant nocturnal frontal lobe epilepsy
Hereditary sensory and autonomic neuropathy type II
ATP6V0A2-related cutis laxa
Incontinentia pigmenti
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
Multiple endocrine neoplasia type 1


Orphan Drugs
Combating the high prices of orphan drugs
A comment published in The Lancet by some members of the rare disease community addresses the rising cost of orphan drugs. The authors state that the incentives provided by the government for developing orphan drugs have backfired to some extent as they are now charging high prices to make up for the small patient base. To remedy the situation, the authors propose rigorous adherence to a diagnosis and the new and expensive drugs to be validated by a designated centre. They also propose a high quality updated registry that constantly monitors the patients as well as a systematic negotiation of the drug price over a period of time.
Access the article through the Lancet

Regulatory News
FDA approves Farydak for treatment of multiple myeloma

The U.S. Food and Drug Administration has approved Farydak (panobinostat) for the treatment of patients with multiple myeloma. Multiple myeloma is a form of blood cancer that arises from plasma cells, a type of white blood cell, found in bone marrow. Farydak works by inhibiting the activity of enzymes, known as histonedeacetylases (HDACs), thus leading to a slowdown of the overdevelopment of plasma cells or cell death. Farydak is intended for patients who have received at least two prior standard therapies, including bortezomib and an immunomodulatory agent. It can be used in combination with bortezomib, a type of chemotherapy, and dexamethasone, an anti-inflammatory medication. Farydak was granted priority review and was also taken under the agency’s accelerated approval program.
Read more

Direct to consumer genetic carrier test gets marketing authorisation and Class II designation by the FDA
The United States Food and Drug Administration (US FDA) has provided marketing authorisation for a direct to consumer screening test for cancer-predisposing disease - Bloom Syndrome, developed by 23andMe. This test will screen for a variant in a single autosomal recessive gene called BLM. If the altered gene is carried by both parents, there’s a 25% chance of their offspring will have Bloom Syndrome. A child must inherit two abnormal alleles, one copy from each parent, in order for symptoms to appear.

Additionally, the agency also announced that this test, and other carrier screening test, will be designated as Class II diagnostics, which is equivalent to pregnancy tests or over the counter cough medicine. Furthermore, the FDA has announced its intent to exempt home-use genetic testing for other carrier genes from premarket review. The agency plans to issue a notice that announces the intent to exempt these tests and that provides a 30 day period for public comment. The FDA statement said, “This action creates the least burdensome regulatory path for autosomal recessive carrier screening tests with similar uses to enter the market”.
Read the FDA press release

ASHG Public Comments on FDA’s Draft Guidance of Framework for Regulatory Oversight of Laboratory Developed Tests
FDA is still actively evaluating the nature of genetic and genomic tests and the regulatory issues they present. ASHG has published its concerns and recommendation for laboratory developed tests (LDTs), next generation sequencing and paediatric genetic tests. They question whether “the scheme for regulation that FDA has proposed is premature insofar as it affects genomic testing”. They point that the meaning of clinical use and intent are unclear in the draft when applied to genomics, recommending a more precise definition of “clinical use”. They argue that the interpretation of clinical significance of gene sequencing does not fall under the regulatory purview of FDA. Finally, ASHG express appreciation of the “agency’s effort to clarify impacts on research, but appropriate policy on genomic research requires a more nuanced and deliberate analysis than is possible as an afterthought to FDA’s general LDT guidance”.
Read the Public Comments of ASHG

Twenty Two Positive opinions recommending orphan designation at the February 2015 COMP meeting
The European Medicines Agency Committee for Orphan Medicinal Products (COMP) adopted twenty two positive opinions issued at the February 2015 COMP meeting for the treatment of:

- the treatment of Alport syndrome
- treatment of Netherton syndrome
- treatment of graft-versus-host disease
- prevention of bronchopulmonary dysplasia
- treatment of fragile X syndrome
- treatment of tenosynovial giant cell tumour
- treatment of biliary tract cancer
- 2 treatments for Gaucher disease
- 2 treatments for systemic sclerosis
- 2 treatments for Huntington’s disease
- treatment of amyotrophic lateral sclerosis
- 5 treatments for epidermolysis bullosa
- treatment of amyotrophic lateral sclerosis
- diagnosis of gastro-entero-pancreatic neuroendocrine tumours
- 2 treatments for ovarian cancer
- treatment of hepatocellular carcinoma
- treatment of plasma cell myeloma
- treatment of primary sclerosing cholangitis
- treatment of retinitis pigmentosa
- treatment of Wilson's disease
- treatment of adenovirus infection following haematopoietic stem cell transplantation
- treatment of Epstein-Barr virus infection following haematopoietic stem cell transplantation

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

Jinarc recommended for approval in rare kidney Disease by the EMA
The European Medicines Agency (EMA) has recommended granting marketing authorisation to Jinarc (tolvaptan), indicated to slow the progression of cyst development and failing kidney function in adult patients with autosomal dominant polycystic kidney disease (ADPKD). The active ingredient tolvaptan blocks receptors in the kidneys thus ensuring the proper regulation of the level of water and sodium in the body in ADPKD patients. According to the EMA website “the CHMP has recommended additional monitoring of the risk of liver damage with Jinarc, as this study found a greater number of people with serious liver adverse effects when taking Jinarc compared with placebo”. The CHMP recommends monitoring the patients through a period of 18 months along with additional safety profiling to evaluate further the risk of liver injury in a post authorisation safety study.
Read the EMA press release

Political and Scientific News
The megafund model to finance development of orphan drugs: analysing the NCATS portfolio
A paper published in Science Translational Medicine, demonstrates the potential of financing program employed by the National Center for Advancing Translational Sciences (NCATS) – the megafund model - to reduce the risk associated with investing in the development of orphan drugs.

A megafund is a “financial investment fund in which investors commit capital to develop a portfolio of orphan drugs and receive the proceeds of these investigational drugs or intellectual property rights as they are sold to venture capitalists or licensed by pharmaceutical companies”.

The authors apply this concept to evaluate the risks and rewards of a simulated portfolio using a real-life rare-disease portfolio from NCATs. The authors calibrated the pooled data from the portfolio of research projects (to develop orphan drugs) funded by NCATs on key model parameters, and sought the opinion valuation panel of experts active in the biotech industry on these. The authors estimated that after a period of 11 years the annualised returns of this hypothetical megafund were 5% and 8% for senior and junior bondholders, respectively. They also predicted a 14.7% return for equity holders which is equivalent to an internal rate of return of 21.6% using typical venture-capital metrics. The authors state that this study illustrates that a rare-disease megafund based on the NCATS business and operation model provides a live example with which to calibrate megafund simulations for orphan drug portfolios.
Read the abstract



NBIA Disorders Association Grant for Neurodegeneration with Brain Iron Accumulation (NBIA)
The purpose of the NBIA Disorders Association Research Grant Program is to encourage meritorious research studies designed to improve the diagnosis or treatment of NBIA. The research can be conducted in countries where adequate supervision of grant administration is possible. The NBIA Disorders Association is accepting applications for one-year grants for clinical and translational research studies related to the early detection, diagnosis, or treatment of patients with NBIA. Application Deadline: April 1, 2015
For further information

DEBRA International : Call for research proposals 2015
DEBRA International is now inviting expressions of interest for funding support of clinical research and clinical trials targeting therapy development and symptom relief for epidermolysis bullosa (EB). There is a two stage application process, with a submission deadline for stage 1 proposals (expressions of interest) on 1 April 2015. Proposals are invited which make a breakthrough in developing therapies that address the underlying causes or the life limiting consequences of EB (e.g. EB related squamous cell carcinoma), or in developing symptom relief treatments that address clinical consequences of EB that impact upon quality of life.
For further information

The ECD Global Alliance is soliciting Letters of Intent for funding of research projects focused on the study of Erdheim-Chester Disease
All investigation proposals will be considered and all qualified and interested investigators are encouraged to submit. As appropriate, submitted studies should consider inclusion of the following: Collaboration among investigators from different institutions as well as translation of findings into the clinical setting.
Maximum Amount of Monies to be Awarded: Up to $100,000 USD (total)
Duration of Grant: 1 Year
LOI Deadline: April 2, 2015

For further information

The Ataxia of Charlevoix-Saguenay Foundation
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. Application Deadline: May 22, 2015
For further information

ERARE: Joint Transnational Call 2015
On the 15th of December 2014 ERare opened the seventh ERare joint call for funding multilateral research projects on rare diseases (JTC 2015) together with the European Commission (EC) under the ERANet cofund mechanism. The call is expected to be opened simultaneously by the parties in their respective countries. The following 17 countries (23 funding agencies) intend to participate in this call: Austria, Belgium (Flanders and French speaking community), Canada (including Québec), France, Germany, Greece, Hungary, Israel, Italy, Latvia, Poland,Portugal, Romania, Spain, Switzerland, The Netherlands and Turkey.
The aim of the call is to enable scientists in different countries to build an effective collaboration on a common interdisciplinary research project based on complementarities and sharing of expertise, with a clear translational research approach. Projects shall involve a group of rare diseases or a single rare disease following the European definition. For more information, details of the topic, eligibility criteria and timeline go to www.erare.eu

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


Courses & Educational Initiatives

The 3rd Edition of Orphan Drug & Rare Disease Seminar
Date: 27 March, 2015
Venue: Lyon, France

This training seminar, organised by FCRIN and Eudipharm aims at raising awareness among clinical research actors on the drug development specificities for rare diseases. This third edition will attempt to answer that very “hot” topic by providing clinical research professionals and project carriers with tools and solutions, thanks to the participation of clinical research experts and authorities.
For further information

Date: 1-5 June, 2015
Venue: Barcelona, Spain

ExPRESS 2015 is the name of the exciting new programme for the upcoming annual EURORDIS Summer School. ExPRESS, which stands for Expert Patients and Researchers EURORDIS Summer School, will gather for the first time both researchers and patient representatives who will be trained together. The trainers are from patient organisations, research institutes and the European Medicines Agency. The four-day training programme develops the capacity of patients' advocates to act as experts in regulatory processes and further their implication in medicines development and advocacy actions both at the national and European levels.
For further information contact Nancy Hamilton
Visit the EURORDIS website for more information.

3rd radiz Rare Diseases Summer School
Date: 1-3 July, 2015
Venue: Zurich, Switzerland

The 3rd 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 summer school will contain lectures by national and international rare disease experts, workshops, and poster presentations by participants.
Visit the EURORDIS website for more 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@rrd-foundation.org/www.rrd-foundation.org.
Advanced metabolic course: Controversies in management
Date: 11-13 March, 2015
Venue: Manchester, UK

in partnership with Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust.
For Further Information

The changing spectrum of IMD: surviving longer and growing old with IMDs
Date: 21-23 May, 2015
Venue: Washington DC, US

Children’s Hospital of Pittsburgh, the Division of Medical Genetics and Children’s National, Department of Genetics and Metabolism.
Registration deadline: 8th April

Classification and diagnostic approach of IMD affecting the synthesis and remodelling of complex lipids
Date: 24-26 June 2015
Venue: Paris, France

in partnership with the Pitié-Salpêtrière Hospital Pierre et Marie Curie University Paris VI; the Academic Medical Center, University of Amsterdam and the University Children’s Hospital of Zurich.
Registration deadline: 13th May

Genetic congenital heart diseases
Date: 7-9 October 2015
Venue: Rome, Italy

in partnership with Bambino Gesù Children’s Hospital, Rome
Registration deadline: 27th August

Neurotransmitter focus course
Date: 9-10 November 2015
Venue: Venice, Italy

in partnership with University Hospital for Child and Adolescent Medicine of Heidelberg and University Hospital of Padua. Registration deadline: 26th September


What's on Where?

The ACMG Annual Clinical Genetics Meeting
Date: 24–28 March, 2015
Venue: Utah, United States

The ACMG Meeting is the preeminent annual gathering of the leaders in the field of genetic and genomics and will provide genetics professionals with the opportunity to learn how genetics and clinical practice. The ACMG Annual Meeting Program Committee has developed present the latest developments and research in clinical genetics and genomics.
For further information

International Ataxia Research Conference
Date: 24–28 March, 2015
Venue: Utah, United States

ARC 2015 is a 4-day international research conference for academics and industry scientists interested in basic and translational research in the ataxias. It is hosted by Ataxia UK,Ataxia Ireland, US-based FARA (Friedreich’s Ataxia Research Alliance) and Italy's GoFAR. The conference will include the following sessions, to cover a wide range of progressive ataxias, including Friedreich’s ataxia and the spinocerebellar ataxias.
For further information

Rare Diseases Summit Australia
Date: 27–28 March, 2015
Venue: Melbourne, Australia

The Rare Disease Summit will brings together opinion leaders from patient, healthcare, research, government and industry organisations to share knowledge and insights for to progress a National Plan for Rare Diseases for Australia
For further information

3rd Asia-Pacific Prader-Willi Syndrome Conference 2015: From Better Start to Better Living
Date: 11-12 April, 2015
Venue: Melbourne, Australia

The theme of this conference is “From better start to better living” and will provide an opportunity for scientists, professionals, parents and caregivers to join together, providing a forum to share expertise.
For further information

Genetic insider: 1st International congress on Clinical Genetics and Genetic Counselling
Date: 16-17 April, 2015
Venue: Seville, Spain

Genetic Insider The connection platform among European and American clinical professionals and industry, to promote the necessary partnership networks for rare diseases.
For further information

3Gb-TEST course on NGS: Next-generation sequencing in a diagnostic setting
Date: 20-23 April, 2015
Venue: Prague, Czech Republic

A 4-day course on Next Generation Sequencing in Prague - Czech Republic in the period of 20-23th April 2015. The focus of the course is on clinical diagnostics using exome/genome sequences, variant identification and analysis including afternoon practicals (limited places). The course will also include an evening symposium co-organised by Milan Macek; “Genotranslation: Interpretation of genome data in diagnostics”.
For further information

13th International Symposium on Mutation in the Genome: detection, genome sequencing & interpretation
Date: 27 APRIL, 2015
Venue: Leiden, Netherlands

The meeting aims to present the latest developments in the field, the best methodologies for scanning, sequencing, bioinformatic, analysis and functional testing.
For further information

2nd International GENCODYS Conference on Integrative Networks in Intellectual Disabilities
Date: 27-29 April, 2015
Venue: Crete, Greece

European funded research consortium GENCODYS exploits a multilevel approach to resolve the integrative networks in intellectual disabilities. The conference will bring together about 150 top researchers, medical doctors and patient representatives in the field of Cognitive Research and related activities.
Talks and submissions for talks have to be related to studies of cognitive dysfunction but can include other fields, namely genetics, cellular, molecular and physiological studies, genomics and epigenomics and bioinformatics.
For further information

6th International conferences on ectodermal dysplasia
Date: 27-30 May, 2015
Venue: Oslo, Norway

The conference will attract medical and dental clinicians and researchers from many countries in addition to patient organisation leaders from all over the world.
For further information

Trisomy 21 Research Society (T21RS) International Conference
Date: 4-6 June, 2015
Venue: Paris, France

T21RS promotes research on Down syndrome and stimulates collaboration between researchers worldwide. The first edition of the T21RS International Conference will be held at the site of the Hôpital de la Pitié-Salpêtrière in Paris. More details will be announced in due course.
For further information

The European Human Genetics Conference 2015
Date: 6-9 June, 2015
Venue: Scotland, United Kingdom

The European Human Genetics Conference is a forum for all workers in human and medical genetics to review advances and develop research collaborations.
For further information

34th Annual European Malignant Hyperthermia Group (EMHG) Meeting
Date: 11-13 June, 2015
Venue: Lille, France

The topics will cover all the fields of interest in malignant hyperthermia, such as invitrocontracturetesting, genetics, clinical and experimental issues, updates and forthcoming projects. The scientific program of the European Malignant Hyperthermia Group (EMHG) will be on state-of-the-art presentations in our field as well as new insights into basic science, clinical research and therapeutic interventions.
For further information

22nd International Meeting of the Pediatric Colorectal Club 2015
Date: 13-15 June, 2015
Venue: Milan, Italy

This meeting aims to provide up to date clinical and scientific information on all aspects of paediatric colorectal disease to practicing paediatric surgeons, nurses and parents’ Associations.
For further information

International Myotonic Dystrophy Consortium Meeting (IDMC)
Date: 8-12 June, 2015
Venue: Paris, France

This consortium will bring together not only scientists and clinicians but also family associations and patients.
For further information

Tourette Syndrome Congress 2015
Date: 24-26 June, 2015
Venue: London, UK

The 1st World Congress on Tourette Syndrome and Tic Disorders is designed for linicians, researchers , post-doctoral fellows, medical residents and allied healthcare professionslas with an interest in current research, diagnosis and treatment of these and related conditions.
For further information

7th International Conference on Children’s Bone Health
Date: 27-30 June, 2015
Venue: Salzburg, Austria

The International Conference on Children’s Bone Health (ICCBH) meetings provide an international forum for the presentation and discussion of current basic and clinical science in the field of bone metabolism and bone mass in children, adolescents and young adults.
The call for abstracts opens in September 2014.
Abstract deadline: 6 February 2015.
For further information

The First Russian Congenital Aniridia Conference
Date: 3-4 July, 2015
Venue: Salzburg, Austria

The conference will aim at sharing knowledge and experience about Congenital Aniridia by increasing the dialogue between patients and doctors about the problems of congenital aniridia.
For further information

10th European Cytogenetics Conference
Date: 4-7 July, 2015
Venue: Strasbourg, France

The 10th European Cytogenetics Conference allows all cytogeneticists from Europe and further afield to come together to hear about and discuss the most exciting developments ranging from applications in prenatal or cancer diagnosis to chromosome biology in epigenetics and evolution.
For further information

10th International Conference: One Carbon Metabolism, vitamins B and Homocysteine
Date: 7-11 July, 2015
Venue: Nancy, France

The conference will deal with a very interdisciplinary program joining leading scientists from biochemical, experimental and clinical medical area. It will cover the most advanced research on One Carbon Metabolism, Homocysteine and related coenzymes and vitamins, including folate, vitamin B12 (cobalamins), vitamin B6 (pyridoxine) and choline in the fields of biochemistry, metabolism, nutrition, epidemiology and experimental and clinical medicine.
For further information

4th International RASopathies Symposium
Date: 17-19 July, 2015
Venue: Washington, US

This conference will bring together caregivers, clinicians, patients, researchers and pharmas with an aim to expedite treatments and cures for the RASopathies.
For further information

Glycoproteinoses: Fourth International Conference on Advances in Pathogenesis and Therapy
Date: 23-26 July, 2015
Venue: Missoouri, US

The Fourth International Conference on the Glycoproteinoses will bring together leading investigators from around the world to discuss the latest advances in understanding the pathophysiology of these rare disorders and the status of the development of new therapies.
For further information

SSIEM Official Satellite Symposia Second World Conference on Congenital Disorders of Glycosylation (CDG)
Date: 28-30 August, 2015
Venue: Lyon, France

This conference aims to raise awareness about Congenital Disorders of Glycosylation (CDG) around the world and to foster an exceptional collaborative model involving patients, family members, researchers and physicians.
For further information

Tyrosinemia 2015
Date: 24-26 September, 2015
Venue: Quebec, Canada

The Quebec parent association (GAETQ) is organizing an international conference on Tyrosinemia. The objective is to share and update our knowledge regarding this disease and its impacts on the medical world. Tyrosinemia was identified fifty years ago and used to greatly diminish the life expectancy of children affected. Now the disease is well controlled, thanks to NTBC.
For further information

The PANDAS 2015 Lake Como Conference
Date: 26 September, 2015
Venue: Lake Como, Italy

Presentations of the latest scientific advances in the diagnosis and treament of PANS/PANDAS shall include topics touching immunology, rheumatology, neurology, child psychiatry, psychology and more.
For further information

8 International Congress of Familial Mediterranean Fever and Systemic Autoinflammatory Diseases
Date: 30 September – 3 October, 2015
Venue: Dresden, Germany

This meeting will offer numerous opportunities to convene with experts on FMF and other auto-inflammatory diseases. This meeting hopes to welcome more than 400 participants from all over the world to discuss the latest scientific and clinical developments, including new treatment options.
For further information

First European Congress on Hereditary ATTR amyloidosis ECATTR
Date: 2-3 November, 2015
Venue: Paris, France

The European Congress for HATTR will allow the meeting of the specialists of all European countries and the sharing of experience. The effort will be to further improve the early diagnosis of sporadic cases and genetic carriers, to review anti-amyloid treatments and clinical trials, to improve genetic counselling.
For further information

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

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

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

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


Commercial events

Pharma Pricing and Market Access Congress 2015
Date: 24-26 February, 2015
Venue: London, UK

The conference provides information on the latest policies affecting market access from payers, HTA authorities and leading industry experts.
For further information

World Orphan Drug Congress USA 2015
Date: 3-7 April, 2015
Venue: Maryland, USA

World Orphan Drug Congress is the premier commercial event for the global rare disease industry. Differentiate yourself from the competition by discovering the latest strategies for sustainability, pricing and reimbursement, commercialization and global market access.
For further information

10th annual World Stem Cells & Regenerative Medicine Congress
Date: 20-22 May, 2015
Venue: Maryland, USA

Discover and understand how industry leaders view the clinical and commercial futures of stem cells and regenerative medicine and the effect it will have on business.
For further information

Pan-Omics Summit
Date: 21-22 May, 2015
Venue: Massachusetts , US

Representatives from big pharma, academic institutions, and government research labs will present data on advances in new technology and case studies on therapeutic targets, molecular diagnostics, and integration of complex data.
For further information

2nd Metabolomics - Advances & Applications in Human Disease Conference
Date: May 21-22, 2015
Venue: Massachusetts, US

This event will present new research and offers networking opportunities with the researchers and scientists who are working on developing clinical assays, connecting the metabolome and the genome, and establishing common quality standards for experimental data.
For further information

World Orphan Drug Congress Asia 2015
Date: 3-4 June, 2015
Venue: Singapore

This event will bring together specialised biotechs/pharmas, government, payers, investors & patient groups in one platform, this event offers a unique opportunity to increase brand visibility amongst the rare disease industry in Asia.
For further information

Date: 17-18 September, 2015
Venue: Copenhagen, Denmark

This conference will bring together different groups of stakeholders on specifically selected topics to help them build relationships and reach their goals.


Media, Press & Publications
Introducing Genetically Speaking, a Joint Initiative of ASHG and ReachMD
Sponsored by the American Society of Human Genetics (ASHG), Genetically Speaking series addresses the lack of access to quality education on genetics for practitioners who are not experts in the field genetic experts. The videos series featuring peer-to-peer interviews provide information on the latest advances in genetic risk assessment, testing, and management. Through these series and the CME Program Cancer Genetics Management in the Primary Care Setting, ASHG seeks to educate these health professionals.
Access the Genetically speaking series


OrphaNews, The Newsletter of the Rare Diseases Community.
OrphaNews is supported by the European Commission's DG SANCO (EUCERD Joint Action N° 2011-22-01)
and the French Muscular Dystrophy Association (AFM)
Editor-in-chief: Ségolène Aymé
Editor: Divya Unni
Editors for Scientific Content: Sophie Höhn
Contact Us
Editorial Board: Ségolène Aymé, Paul Boom, Anna Bucsics, Kate Bushby, Lorenzo Dagna, Adam Heathfield, Lilian Lau, Yann Le Cam, Jordi Llinares-Garcia, Antonia Mills, Antoni Monserrat, Ana Rath, Charlotte Rodwell, Gerhard Steffes, Till Voigtländer, Jaroslaw Waligora

Orphanet Partner Country Representatives: Kristine Hovhannesyan (Armenia), Hugh Dawkins (Australia), Till Voigtlander (Austria), Rumen Stefanov (Bulgaria), Ana Stavljenic-Rukavina (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek (Czech Republic), John Rosendahl Ostergaard (Denmark), Vallo Tillmann (Estonia), Riitta Salonen (Finland), Joerg Schmidtke (Germany), Helen Michelakakis (Greece), 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), Jorge Sequeiros (Portugal), Cristina Rusu (Romania), Dragica Radojkovic (Serbia), Laszlo Kovacs (Slovakia), Borut Peterlin (Slovenia), Francesc Palau (Spain), Désirée Gavhed (Sweden), Loredana D'Amato Sizonenko (Switzerland), Ugur Ozbek (Turkey), Dian Donnai (UK)
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Photo credit : Serimedis http://www.serimedis.inserm.fr/ (unless otherwise stated)