27 February 2016 print
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This Rare Disease Day join hands with the community worldwide to make the patient voice heard

On 29 February patients around the world will celebrate the ninth annual Rare Disease Day. People living with a rare disease and their families, patient organisations, politicians, carers, medical professionals, researchers and industry will come together in solidarity to raise awareness of rare diseases. It will also be a day of reflection to acknowledge how much more can be achieved if we work collectively.

This is a patient-led campaign which was started in 2008 by patient organisations which included mostly European countries. It has now expanded cumulatively, with over 80 countries and regions participating in Rare Disease Day 2016. This year Uganda and Indonesia are making their debut among others, by holding their own local events.

This year's official video for Rare Disease Day (above) has been received enthusiastically, with more than 13,000 views on youtube! This video, now available in 33 languages, celebrates the special moments in the lives of people living with a rare disease.

This years’ theme ‘Patient Voice” recognises the crucial role that patients play in voicing their needs and in instigating change that improves their lives and the lives of their families and carers. This years’ slogan ‘Join us in making the voice of rare diseases heard’ appeals to a wider audience, those that are not living with or directly affected by a rare disease, to join the rare disease community in making known the impact of rare diseases. stage.

It’s not too late. Participate in the Rare Disease Day events. Make your voice heard. Help amplify the voice of the patients.
More on Rare Disease Day

Spotlight on...
European Conference on Rare Diseases & Orphan Products: plan for an invigorating and educational event
The biennial European Conference on Rare Diseases & Orphan Products (ECRD) will be held this year in Edinburgh, Scotland. In its 8th year, this conference presents a unique opportunity to come together and exchange ideas. The ECRD 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. The focus in 2016 will be on Game Changers in Rare Diseases – the aspects which will bring a dramatic change to the worldview of rare diseases and how it will change the landscape of rare diseases.

Pre-conference tutorials will be focused on Orphan Drug Designation, and Health Technology Assessment adaptive designs and innovative approaches for rare diseases. These pre-conference tutorials will prove to be vital to prepare you for what will be a stimulating and exciting conference.

Theme 1: Game Changers in Research
The sessions in this theme will address the move from research to diagnosis of these new technologies and consider the patient at the centre of new developments.

Theme 2: Game Changers in Diagnosis
The technological capabilities for diagnosis and other diagnostic tools are developing at a rapid pace, however, experience of the consequences of implementing these developments is still very low. This theme will allow participants on the best ways of adopting these new developments.

Theme 3: Game Changers in Drug Development & Authorisation: Medicines & Adaptive Pathways
Drug development, authorisation and access is no longer a linear path, but more of a cycle of evidence generation and review. This theme will aim to identify what needs our attention most and how we can smooth the path from research through to real treatments with real access for real patients.

Theme 4: Game Changers in Care Provision
This theme will analyse how care will change in the local hospitals of Europe from the creation of European Reference Networks and mapping the evolution of practices and treatments through a common currency that enables experts to share knowledge and practices, driving improvements for all.

Theme 5: Game Changers in Social Policy
Integrated care provision in coordination between medical, social and local support services, via multidisciplinary care pathways and innovative care solutions, is a crucial game changer to tackle the unmet social needs of people living with rare diseases. This theme will delve deeply into improving our understanding of social policy in rare diseases.

Theme 6: Game Changers in Global Society
This theme aims to drive home the message that rare diseases are truly global. By connecting globally, we can accelerate advances in knowledge, public awareness, and drug discovery and development but most important we can connect patients to professionals, the public, and each other.
Register for this important event early and be part of the game changers.


National & International Policy Developments
Other European news
Utility of MAST in European patient-centred telemedicine pilots
A study published in International Journal of Technology Assessment in Health Care describes how Model for ASsessment of Telemedicine Applications (MAST), a health technology assessment (HTA) inspired framework, has been utilised. MAST assesses the effectiveness and contribution to quality of telemedicine applications, based on rigorous, scientific data. In this study, the authors elucidate how MAST was used in the 23 pilot study of the European project RENEWING HEALTH (RH) – which implements a “large-scale, real-life test beds for the validation and subsequent evaluation of innovative patient-centered telemedicine services.”

Notwithstanding the usefulneness of MAST for these pilot studies, there were several challenges for which many recommendations were posed by the authors. The recommendations include producing “process studies and adding domains of technological usability, responsible innovation, health literacy, behavior change, caregiver perspectives and motivational issues of professionals.”
Read the PubMed abstract

Development of a registration system for genetic counsellors and nurses in health-care services in Europe
An article published in European Journal of Human Genetics summarises the work undertaken to “establish a registration process to ensure an appropriate level of competence for genetic counsellors and common professional standards in Europe.” In 2009, the European Society of Human Genetics (ESHG) set up an Ad Hoc Genetic Nurse and Counsellor Accreditation Committee to ensure adequate standards of practice for genetic counsellors. They developed a set of professional standards for education and a code of practice of genetic counsellors. They have also recommended a master level educational pathway along with a European curriculum for genetic counselling professionals.

This committee became part of the new European Board of Medical Genetics (EBMG). EBMG was tasked with defining guidelines for registration applicants and to discuss the evidence required for assessing competences (further information). Registration was launched in 2013 and now includes registrants from 12 countries. The authors believe that this serves as an “important contribution to the further development and adoption of best practice and training models.”
Read the PubMed abstract

EURORDIS on mapping out the similarities and differences between rare cancers and rare diseases
Patients (and those who care for them) who are affected by rare diseases, rare cancers, and also by rare diseases which may give rise to cancers, have expressed their need to map out the similarities and differences that exist between rare diseases and rare cancers.

Published on the EURORDIS website is a table which identifies the similarities and differences between rare cancers and rare diseases to better identify what priority advocacy actions need to be carried out together. This table also helps ascertain where to join forces in order to improve access to equal and timely diagnosis as well as appropriate care, information and support.

This table is the result of work conducted by Jan Geissler, co-founder and Vice-President of the Chronic Myeloid Leukemia Advocates Network, Kathy Oliver, co-founder and Chair of the International Brain Tumour Alliance and supported by EURORDIS. The sixty rare cancer patient organisations (children and adults), members of EURORDIS, were consulted to give their valuable input on this table.

The table compares and contrasts rare cancers and rare diseases on the research conducted, delay in accessing a diagnosis, screening, prevention, Centres of expertise, European Reference Networks, training of healthcare professionals, access to treatments: sharing of best practices/clinical guidelines, protocols, healthcare and social costs, orphan drugs: development and HTA/value assessment and access, clinical trials in small populations, registries, biobanks.
Read the document

Other International News
NIH of the United States includes rare diseases in its strategic plan for fiscal years 2016-2020
National Institute of Health (NIH) in the United States has released its strategic fiscal plan for 2016-2020 which has placed a heavy focus on funding research and development in the field of rare diseases. This strategic plan was prepared at the request of the United States Congress, wherein NIH will use this framework to turn scientific discoveries into better health.

Since one of the priorities of this Strategic Plan is to advance opportunities presented by rare diseases, they aim to support and help patients with the NIH Clinical Center’s Undiagnosed Diseases Program. NIH will also promote the recently established Undiagnosed Diseases Network to promote use of genomic data in disease diagnosis and enlist the help of basic researchers in elucidating disease mechanisms in order that treatments can be developed. NIH also plans to advance the goals of Precision Medicine.

According to NIH, it is uniquely positioned to advance developments as well as capitalise on the opportunities, presented by rare diseases over the next 5 years. Finally, NIH predicts that the research supported by them will directly contribute to FDA-approved therapies for at least a dozen rare diseases.
Read the NIH strategic Plan

Health care resource allocation for haemophilia A and B patients in Iran
A study published in Transfusion and Apheresis Science evaluates the cost of the treatment of haemophilia A and B patients in Iran. These expenses are paid by the national health systems in Iran. The authors identified patients diagnosed with Factor VIII and IX deficiency using the national registry database of Ministry of Health in Iran. They then identified the direct medical costs for these patients which amounted to USD 15,130. Most of this amount was allocated to medication, followed by therapeutic services and diagnostic service, which was only 1% of these expenses.
Read the PubMed abstract

Megan Fookes of Rare Voices Australia awarded the Medal of the Order on Australia Day

Megan Fookes from Rare Voices Australia has been awarded the prestigious Medal of the Order (OAM) on Australia Day. This prestigious honour is awarded to Australians who have dedicated their life to the betterment of lives of Australians. Megan Fookes has been an active advocate for patients suffering from rare diseases since she was 23 years old. She has a personal connection with rare disease as she cares for her child who lives with Fabry Disease. Megan served on the Board of Fabry International Network (FIN), and continues to volunteer as Director at Fabry Australia. She is also appointed as Advisor in Policy & Stakeholder Relations at Rare Voices Australia, and has roles on many local, national and international committees for rare disease. Megan has dedicated the award to her late father -who lived with Fabry Disease, and to all adults, children and families who are doing their very best living with rare diseases.

Report reveals FDA’s inability to monitor the safety of drugs with expedited approval
A performance audit by a US Government Accountability Office (GAO) has revealed that the US Food and Drug Administration (FDA) have been unable to adequately monitor the safety of drugs that were granted expedited approval. According to the report by GAO, “FDA lacks reliable, readily accessible data on tracked safety issues and postmarket studies needed to meet certain postmarket safety reporting responsibilities and to conduct systematic oversight.”

Sponsors submitted more than 770 requests for fast track designation since fiscal year 2007, and FDA granted about two-thirds of these requests. According to FDA data, 1 in 4 drug applications that Center for Drug Evaluation and Research (CDER) approved from October 1, 2006, to December 31, 2014, used at least one expedited program. Many of them were oncology drugs and most importantly, several orphan drugs were beneficiaries of the expedited approval programme.

The audit states that FDA is able to track significant safety issues using an internal database. However GAO reports that “evaluations conducted by CDER of data in its database revealed problems with the completeness, timeliness, and accuracy of the data.” FDA have also stopped publishing the statutory reports on some potential safety issues thus restricting it from performing systemic oversight of postmarket drug safety.

Futhermore, “FDA does not have plans to use these data to inform its oversight of its expedited programs, such as determining if drugs that used an expedited program were subsequently associated with tracked safety issues at rates or of types that differed from drugs that used FDA’s standard process.”

Previously, OrphaNews had reported on the approval of 45 novel drugs by CDER in 2015, out of which 21 were orphan drugs. It should be noted that out of these 21 orphan drug approvals, 10 received either an Accelerate Approval or Fast Track status, or both. Whether these orphan drugs will be adequately monitored post-marketing, will be of interest to rare disease patients and their families.
Read the GAO audit

Western Australia to set up an undiagnosed disease programme
Western Australia’s (WA) Department of Health plans to offer a clinical programme focussed solely on finding answers for people with mysterious and longstanding medical conditions. The Department’s vision for the program is modelled on the US National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP). WA’s UDP is likely to be based at Genetic Services of Western Australia (GSWA), the sole provider of Statewide clinical genetics services which reviews children with particularly complex, unexplained medical conditions that appear to have a genetic origin.
Further information

An update on Zika virus and its involvement in birth defects
Zika virus is an emerging mosquito-borne virus. Recently in Brazil, local health authorities have observed an increase in Guillain-Barré syndrome which coincided with Zika virus infections in the general public, as well as an increase in babies born with microcephaly in northeast Brazil.

Although the findings strengthen the evidence that Zika virus is involved in the increase in microcephaly cases seen in Brazil, it's still unclear what fraction of infected mothers pass the virus to their unborn babies and what percentage of infected babies suffer from developmental defects.

World Health Organisation director general, Margaret Chan called Zika an "extraordinary event" that needed a co-ordinated response. The European Medicines Agency (EMA) has established a task force of European experts with specialised knowledge in vaccines, infectious diseases and other relevant expertise to contribute to the global response to the threat of the Zika virus infection.
Further information on the WHO website
Further information on the EMA website

Guidance Documents and Recommendations
Achondroplasia: best practices in the evaluation and treatment of foramen magnum stenosis
Consult the Pubmed abstract
To read more about "Achondroplasia"

Am J Med Genet A. ; 170(1):42-51 ; January, 2016
Treatment of cystic fibrosis in low-income countries
To what degree care for individuals with cystic fibrosis (CF) who live in low-income settings with limited resources can be structured is expressed in Lancet Respiratory Medicine. The authors note that although there are systematic guidelines for patients living in developed countries, there is an acute lack of care guidelines for CF patients living in resource-limited countries. Therefore, in this commentary, the authors provide treatment strategies to improve longevity and quality of life for these patients.

According to the authors, proper nutritional care of patients is vital as patients, especially children, in these areas have poorly balanced diets which is exacerbated in CF patients, due to the malabsorption associated with it. Focus should be directed towards airway clearance to enhance mucociliary clearance to avoid the need for prolonged hospital admission. The authors also recommend utilisation of inhaled anti-Pseudomonas antibiotics initiated immediately after the onset of P aeruginosa colonization. Finally, the authors underscore the importance of adherence of treatment towards successful management.
Read the PubMed abstract

Bioinformatics, Registries and Data Management
OMIM Explorer: tool for disease prioritisation using variant and phenotype data
An article published in Genome Medicine presents “OMIM Explorer” has reported on a tool which “implements an adaptive approach for disease gene discovery based on patient phenotypes.” According to the authors the tool integrates patient phenotype and variant data to produce a ranked list of diagnosis. They do this by exploring disease catalogues such as OMIM and HPO. The authors of this tool have validated it using “a previously published cohort of exome cases from the BMGL diagnostic laboratory.” The authors have also provided free tutorial videos with example use cases freely available at http://www.omimexplorer.com.
Read the PubMed abstract

Data sharing favoured by patients in the European LeukoTreat project
A study published in European Journal of Human Genetics explores patient and family views on sharing their medical data in the European leukodystrophies database to optimise the information and consent process. This study found that patients and their families were strongly in favour of participating in the research conducted by the database and trusted the research conducted by them immensely. However, they also wanted continued information on the database and expected transparency on “database governance, the conditions framing access to data, all research conducted, partnerships with the pharmaceutical industry, as well as access to results.” Thus the authors advocate obtaining initial broad consent as well as providing patients and families with ongoing information.
Read the PubMed abstract


Ethical, Legal & Social Issues
Recommendations for informed consent process in international collaborative rare disease research
An article published in European Journal of Human Genetics identifies the core elements to be addressed in the informed consent documents for international collaborative rare disease research utilising biobanks and registries. They provide guidelines for newly established biobanks and registries as well as for older collections without (or limited) informed consent. The authors provide principles for ethically collecting informed consent for both scenarios, which have been applied and are in current practice within the RD-Connect consortia.
Read the PubMed abstract

NORD-FDA collaborate to collect natural history data on rare diseases
National Organization of Rare Diseases (NORD) announced a cooperative project with the United Stated Food and Drugs Administration to develop natural history studies for twenty rare diseases. This project will involve the development of a “registry toolkit containing best-practice tools and templates that will aid future organisations to initiate and conduct natural history studies that are designed to support drug development programs.” As part of the grant, NORD will work with patient groups and the FDA to develop a registry toolkit containing best-practice tools and templates that will aid future organizations to initiate and conduct natural history studies that are designed to fill research gaps and support drug development programs. These studies aim to collect enough longitudinal data to help medical researchers better understand how these diseases develop and progress over time.

NORD and FDA invite proposals from disease patient groups to join this project. From the applicants, twenty proposals that best fulfill the goals of the project will be selected. Each study will be sponsored by the disease patient group, will include the common data elements created as part of this project, and will include disease-specific research.
For more information

An introduction of patient peer review at The BMJ
In order to enhance the peer review process The BMJ is inviting patient reviewers to improve the relevance and patient centredness of its research, education, analysis, and editorial articles.

The BMJ invites patients, carers and/or advocate of a patient group to the peer-review process which has so far been limited to doctors and researchers. This initiative aims to give patients a larger voice in bringing to light research that is relevant to their lives and condition.

Patient review is a new initiative for The BMJ who hope that other publishers will follow suit.
For more information

Phenotyping in rare genetic diseases: a parents point of view
A parent’s view on the importance of phenotyping in rare diseases is published in Applied & Translational Genomics. The author is the parent and caregiver of a child with an ultra-rare disease with too many names. She uses M-CM, or macrocephalycapillary malformation syndrome. The author explains her trials and tribulations to get a diagnosis for her daughter, which she finally discovered from reading a blog which described similar phenotype as that of her child. The author expresses her discontent at the lack of specialised clinical genetic services which has a deep understanding of phenotyping. According to the author “a shift toward genetic sequencing and analysis comes at the expense of skill and interest in clinical phenotyping.”
Read the Open Access article

Expanded access for experimental drugs in the United States: a discussion
A correspondence article published in BMC Medicine describes how the “expanded access and “compassionate use” policy and regulatory environment in the United States has evolved over time and how it currently impacts access to experimental drugs.” They then identified the patient usage of the electronic media to compel access to these drugs. The authors report that even though patients and families express uncertainty about the digital media, they gravitate towards the use of online campaigns “out of desperation, lack of reliable information about treatment access options, and in direct response to limitations of the current fragmented structure of expanded access regulation and policy currently in place.”
Read the PubMed abstract

Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism
A study in Orphanet Journal of Rare Diseases aimed to systematically review the research on health-related quality of life (HrQoL), psychological adjustment, and adaptive functioning in patients with intoxication-type inborn errors of metabolism (IT-IEM). The authors report that findings on HrQoL did not reveal consistent results. The also report that psychological adjustment and adaptive functioning showed either no difference or worse adjustment of IT-IEM patients.
Read the Open Access article

3 March is World Birth Defects Day
The International Federation for Spina Bifida and Hydrocephalus and 11 other international organisations working on birth defects created the first World Birth Defects Day on 3 March 2015 to raise awareness of this serious global health concern and advocate for more prevention, care and research to help babies and children. You can find all the info here

The International Federation for Spina Bifida will also launch PUSH. PUSH is a Global alliance of organisations to accelerate spina bifida and hydrocephalus prevention, and to realise optimal care and better quality for those affected, "Uniting voices around the world to improve the lives of those affected by spina bifida and hydrocephalus.


New Syndromes

Disorder of manganese and zinc transporter caused by mutation of SLC39A8
In a first article, the authors described an autosomal-recessive disorder in six individuals from the Hutterite community and in an unrelated Egyptian sibpair characterised by intellectual disability, developmental delay, hypotonia, strabismus, cerebellar atrophy, and variable short stature. Exome sequencing in one affected Hutterite individual and the Egyptian family identified the same homozygous variant in SLC39A8. In a second article, the authors studied two individuals that presented impaired galactosylation which leads to a severe disorder with deformed skull, severe seizures, short limbs, profound psychomotor retardation, and hearing loss. Variants in SLC39A8 were identified via whole exome-sequencing.
Consult the Pubmed abstracts

Am J Hum Genet. ; 97(6):886-93; 894-903 ; December 2015
Dysmorphic features, intellectual disability, and neurological manifestations associated with TAF1 variants
The authors described an X-linked genetic syndrome associated with mutations in TAF1 and manifesting with global developmental delay, intellectual disability, characteristic facial dysmorphology, generalised hypotonia, and variable neurologic features, all in male individuals. Eleven families were identified with overlapping clinical presentations.
Consult the Pubmed abstract

Am J Hum Genet. ; 97(6):922-32 ; December 2015
Intellectual disability and behaviour disorder possibly linked to UBA6 mutations
In a first family, a 4q13.1-q13.2 deletion was identified in a mother with mild intellectual disability and in her two children, both with mild intellectual disability and attention deficit hyperactivity disorder. In a second family, a de novo 4q13.2-q13.3 deletion was detected in a female patient, born to unaffected parents, with a diagnosis of mild intellectual disability, behavioural disorder and facial dysmorphism. The shortest region of overlap between these two aberrations is located at chromosome 4q13.2 and includes 17 genes amongst of which the authors suggested UBA6 as a strong candidate gene for these phenotypes.
Consult the Pubmed abstract

Am J Med Genet A. ; 167(12):3113-20 ; December 2015
Xq21.31-q21.32 duplication underlying X-linked intellectual disability in a large family with five affected males
The authors genotyped 10 individuals of a 4 generation family segregating X-linked intellectual disability. Whole genome genotyping data analysis identified a single duplication on X-chromosome in all five affected male individuals presenting moderate to severe intellectual disability, seizures and behavioural abnormalities.
Consult the Pubmed abstract

Am J Med Genet A. ; 170(1):87-93 ; January, 2016
A hypercontractile congenital muscle stiffness phenotype caused by TPM3 deletions
The authors reported two patients with novel de novo TPM3 deletions. These mutations resulted in a significant hypercontractile phenotype with congenital muscle stiffness, rather than weakness, and respiratory failure in one patient.
Consult the Pubmed abstract

Ann Neurol. ; 78(6):982-94 ; December 2015
Charcot-Marie-Tooth disease type 2Z due to mutations in MORC2
The authors presented a new axonal Charcot-Marie-Tooth disease form named ‘Charcot-Marie-Tooth disease type 2Z’ associated with the gene MORC2. Whole-exome sequencing in a family with autosomal dominant segregation identified the novel MORC2 change in four patients. Two additional sporadic cases were also identified. The phenotype was variable and included patients with congenital or infantile onset, as well as others whose symptoms started in the second decade. The patients with early onset developed a spinal muscular atrophy-like picture, whereas in the later onset cases, the initial symptoms were cramps, distal weakness and sensory impairment. Weakness and atrophy progressed in a random and asymmetric fashion and involved limb girdle muscles, leading to a severe incapacity in adulthood. Sensory loss was always prominent and proportional to disease severity. Electrophysiological studies were consistent with an asymmetric axonal motor and sensory neuropathy, while fasciculations and myokymia were recorded rather frequently by needle electromyography.
Consult the Pubmed abstract

Brain ; 139(Pt 1):62-72 ; January, 2016
Autosomal recessive Charcot-Marie-Tooth disease type 2X caused by SPG11 mutations
The authors investigated 28 unrelated families with autosomal recessive axonal Charcot-Marie-Tooth disease defined by clinical, electrophysiological, as well as pathological evaluation. They identified 15 SPG11 mutations in 12 families. This novel disease was named ‘Charcot-Marie-Tooth disease type 2X’.
Consult the Pubmed abstract

Brain ; 139(Pt 1):73-85 ; January, 2016

New Genes

22q11.2 deletion syndrome: JMJD1C, RREB1, MINA and KDM7A as genetic modifiers
Consult the Pubmed abstract
To read more about "22q11.2 deletion syndrome"

Am J Hum Genet ; 97(6):869-77 ; December 2015
Autosomal-dominant primordial dwarfism associated with ear-patella-short stature syndrome due to de novo heterozygous GMNN mutations in three subjects
Consult the Pubmed abstract
To read more about "Ear-patella-short stature syndrome"

Am J Hum Genet. ; 97(6):904-13 ; December 2015
Isolated cytochrome C oxidase deficiency associated with a homozygous splice site mutation in COX8A in a patient
Consult the Pubmed abstract
To read more about "Isolated cytochrome C oxidase deficiency"

Brain ; [Epub ahead of print] ; December 2015
Congenital myasthenic syndrome type 19 caused by mutations in COL13A1 in two families
Consult the Pubmed abstract
To read more about "Postsynaptic congenital myasthenic syndromes"

Am J Hum Genet. ; 97(6):878-85 ; December 2015
Inherited glycosylphosphatidylinositol deficiency due to a novel autosomal recessive PIGN mutation in a boy
Consult the Pubmed abstract
To read more about "Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency"

Am J Med Genet A. ; 170(1):183-8 ; January, 2016
Autosomal recessive sideroblastic anaemia caused by autosomal recessive mutations in HSPA9
Consult the Pubmed abstract
To read more about "Autosomal recessive sideroblastic anemia"

Blood ; 126(25):2734-8 ; December 2015
Ductal plate malformations linked to compound heterozygous PKHD1 variants
Consult the Pubmed abstract
To read more about "Caroli disease"
To read more about "Hepatic cystic hamartoma"
To read more about "Autosomal recessive polycystic kidney disease"

Am J Med Genet A. ; 167(12):3046-53 ; December 2015
Familial myelodysplasia/Acute myeloid leukaemia associated with frameshift PDS5B, somatic ASXL1 and germline GATA1 mutations
Consult the Pubmed abstract
To read more about "Acute myeloid leukemia"

Blood ; 126(22):2484-90 ; November 2015
Systemic sclerosis: ATP8B4 as a risk factor
Consult the Pubmed abstract
To read more about "Systemic sclerosis"

Arthritis Rheumatol. ; 68(1):191-200 ; January, 2016

Research in Action

Clinical Research
Alkaptonuria: nitisinone therapy decreases urinary homogentisic acid excretion and is well tolerated
Consult the Pubmed abstract
Consult a first study on Orphanet
Consult a second study on Orphanet

To read more about "Alkaptonuria"

Ann Rheum Dis. ; 75(2):362-7 ; February 2016
Enthesitis-related arthritis: adalimumab reduces signs and symptoms and is well tolerated in paediatric patients
Consult the Pubmed abstract
Consult the study on Orphanet

To read more about "Enthesitis-related arthritis"

Arthritis Care Res (Hoboken). ; 67(11):1503-12 ; November 2015
Juvenile idiopathic arthritis: methotrexate combined with tumour necrosis factor within the first year of disease reduces uveitis risk
Consult the Pubmed abstract
To read more about "Juvenile idiopathic arthritis"

Arthritis Care Res (Hoboken). ; 68(1):46-54 ; January, 2016
Refractory hemophagocytic syndrome: doxorubicin-etoposide-methylprednisolone regimen prolongs patient survival
Consult the Pubmed abstract
To read more about "Hemophagocytic syndrome"

Blood ; 126(19):2186-92 ; November 2015
Refractory cytopenia with multilineage dysplasia: sirolimus treatment is safe and effective
Consult the Pubmed abstract
To read more about "Refractory cytopenia with multilineage dysplasia"

Blood ; 127(1):17-28 ; January, 2016
CALR-mutated essential thrombocythemia: interferon α therapy induces high rates of haematologic and molecular responses
Consult the Pubmed abstract
To read more about "Essential thrombocythemia"

Blood ; 126(24):2585-91 ; December 2015
Subependymal giant cell astrocytoma: safety and sustained effect of everolimus over 5 years of treatment
Consult the Pubmed abstract
To read more about "Subependymal giant cell astrocytoma"

Ann Neurol. ; 78(6):929-38 ; December 2015
Optic glioma: nerve growth factor eye drop administration is a safe, easy and effective strategy for the treatment of visual loss
Consult the Pubmed abstract
To read more about "Optic pathway glioma"

Brain ; [Epub ahead of print] ; January, 2016
Chronic lymphocytic leukaemia: partial reconstitution of humoral immunity and fewer infection in patients treated with ibrutinib
Consult the Pubmed abstract
To read more about "B-cell chronic lymphocytic leukemia"

Blood ; 126(19):2213-9 ; November 2015
Chronic lymphocytic leukaemia: treatment with idelalisib plus rituximab is well tolerated and efficient in older patients
Consult the Pubmed abstract
To read more about "B-cell chronic lymphocytic leukemia"

Blood ; 126(25):2686-94 ; December 2015
Chronic lymphocytic leukaemia: mitigated results with obinutuzumab monotherapy
Consult the Pubmed abstract
Blood ; 127(1):79-86 ; January, 2016
Acute lymphoblastic leukaemia: mitigated results blinatumomab treatment
Consult the Pubmed abstract
To read more about "Precursor B-cell acute lymphoblastic leukemia"

Blood ; 126(24):2578-84 ; December 2015
Hodgkin lymphoma: brentuximab vedotin may provide a frontline treatment option for older patients who cannot tolerate conventional chemotherapy
Consult the Pubmed abstract
To read more about "Hodgkin lymphoma"

Blood ; 126(26):2798-804 ; December 2015
Eosinophilic granulomatosis with polyangiitis: rituximab treatment results in high rates of improvement and reduced requirement of prednisolone
Consult the Pubmed abstract
To read more about "Eosinophilic granulomatosis with polyangiitis"

Ann Rheum Dis. ; 75(2):396-401 ; February 2016
Sickle cell disease: prophylactic transfusions may positively impact several adverse maternal and neonatal outcomes
Consult the Pubmed abstract
To read more about "Sickle cell anemia"

Blood ; 126(21):2424-35 ; November 2015
Takayasu arteritis increases the risk of obstetric and maternal complications
Consult the Pubmed abstract
To read more about "Takayasu arteritis"

Arthritis Rheumatol. ; 67(12):3262-9 ; December 2015
Women with rare autoimmune diseases are at increased risk of having both maternal complications and adverse neonatal outcomes
Consult the Pubmed abstract
To read more about "Vasculitis"
To read more about "Sjögren syndrome"
To read more about "Systemic sclerosis"
To read more about "Behçet disease"
To read more about "Polymyositis"
To read more about "Dermatomyositis"

Arthritis Rheumatol. ; 67(12):3314-23 ; December 2015
Williams syndrome: epilepsy is a possible feature
Consult the Pubmed abstract
To read more about "Williams syndrome"

Am J Med Genet A. ; 170(1):148-55 ; January, 2016
IPEX syndrome: phenotype extension
Consult the Pubmed abstract
To read more about "Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome"

Am J Med Genet A. ; 170(1):226-32 ; January, 2016
Therapeutic Approaches

Sickle cell disease: administration of hydroxyurea with AKT2 inhibitor decreases vaso-occlusive events in mice
Consult the Pubmed abstract
To read more about "Sickle cell anemia"

Blood ; 126(22):2511-7 ; November 2015
Huntington disease: olesoxime suppresses calpain activation and mutant huntingtin fragmentation, which alleviates the behavioural and neuropathological phenotype of the rat
Consult the Pubmed abstract
To read more about "Huntington disease"

Brain ; 138(Pt 12):3632-53 ; December 2015
Femoral head osteonecrosis: transplantation of hypoxia preconditioned bone marrow mesenchymal stem cells enhances angiogenesis and osteogenesis in rabbits
Consult the Pubmed abstract
To read more about "Familial avascular necrosis of femoral head"
To read more about "Secondary non-traumatic avascular necrosis"
To read more about "Traumatic avascular necrosis"

Bone ; 81:544-53 ; December 2015
Diagnostic Approaches

Lujan-Fryns syndrome: specific facial features, nasal speech and obvious X-linked segregation of the disorder or pathogenic MED12 mutation required for the diagnosis
Consult the Pubmed abstract
To read more about "X-linked intellectual disability with marfanoid habitus"

Am J Med Genet A. ; 170(1):94-102 ; January, 2016
Axial myopathy: review on diagnosis
Consult the Pubmed abstract
Brain ; 139(Pt 1):13-22 ; January, 2016
Bladder cancer: review on urinary biomarkers for diagnosis
Consult the Pubmed abstract
To read more about "Bladder cancer"

Ann Intern Med. ; 163(12):922-31 ; December 2015

Patient Management and Therapy
Kawasaki disease: available evidence does not support an association between the disease development and vaccine administration
Consult the Pubmed abstract
To read more about "Kawasaki disease"

Expert Rev Vaccines. ; 1-8. [Epub ahead of print] ; December 2015
Hodgkin lymphoma in children and adolescents: review on clinical research
Consult the Pubmed abstract
To read more about "Hodgkin lymphoma"

Hematology Am Soc Hematol Educ Program. ; 2015(1):514-21 ; December 2015
Acute myeloid leukaemia: reviews on molecular landscape and treatments
Consult the Pubmed abstracts
To read more about "Acute myeloid leukemia"

Blood ; 127(1):29-41; 42-52; 53-61; 62-70; 71-8 ; January, 2016
Lymphoma: review on genetic risk factors
Consult the Pubmed abstract
To read more about "Non-Hodgkin lymphoma"
To read more about "Hodgkin lymphoma"
To read more about "B-cell chronic lymphocytic leukemia"

Blood ; 126(20):2265-73 ; November 2015
Behçet disease: review in the Polish population
Consult the Pubmed abstract
To read more about "Behçet disease"

Arch Med Sci. ; 11(6):1189-96 ; December 2015
Congenital disorders of autophagy: a review
Consult the Pubmed abstract
To read more about "Autosomal recessive spastic paraplegia type 11"
To read more about "Autosomal recessive spastic paraplegia type 15"
To read more about "Autosomal recessive spastic paraplegia type 49"
To read more about "Vici syndrome"
To read more about "Beta-propeller protein-associated neurodegeneration"
To read more about "Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome"

Brain ; [Epub ahead of print] ; December 2015
Primary hyperparathyroidism: a review
Consult the abstract
To read more about "Familial primary hyperparathyroidism"

Italian Journal of Medicine ; 9(4):330-345 ; 2015
Bleeding disorders: review on care and treatment for women and girls
Consult the Pubmed abstract
Eur J Haematol. ; 95 Suppl 81:2-10 ; December 2015
Haemophilia: two reviews on musculoskeletal care and transition from adolescence to adulthood
Consult the Pubmed abstracts
To read more about "Hemophilia"

Eur J Haematol. ; 95 Suppl 81:11-21; 30-5 ; December 2015
Acquired haemophilia: review on clinical practice
Consult the Pubmed abstract
To read more about "Acquired hemophilia"

Eur J Haematol. ; 95 Suppl 81:36-44 ; December 2015
Paroxysmal dyskinesia: review on clinical and genetic heterogeneity
Consult the Pubmed abstract
To read more about "Paroxysmal non-kinesigenic dyskinesia"
To read more about "Paroxysmal kinesigenic dyskinesia"
To read more about "Paroxysmal exertion-induced dyskinesia"

Brain ; 138(Pt 12):3567-80 ; December 2015
PRRT2-associated paroxysmal diseases: a review
Consult the Pubmed abstract
To read more about "Infantile convulsions and choreoathetosis"
To read more about "Paroxysmal kinesigenic dyskinesia"
To read more about "Paroxysmal non-kinesigenic dyskinesia"
To read more about "Paroxysmal exertion-induced dyskinesia"
To read more about "Benign familial infantile epilepsy"
To read more about "Familial or sporadic hemiplegic migraine"

Brain ; 138(Pt 12):3476-95 ; December 2015
Gonadal tumour in Frasier syndrome: a review
Consult the Pubmed abstract
To read more about "Frasier syndrome"

Cancer Prev Res (Phila). ; 8(4):271-6 ; April 2015
Sarcoma of the breast: a review
Consult the Pubmed abstract
To read more about "Soft tissue sarcoma"

J Clin Pathol. ; [Epub ahead of print] ; January, 2016
Primary retroperitoneal mucinous cystadenocarcinoma: a review
Consult the Pubmed abstract
Arch Gynecol Obstet. ; [Epub ahead of print] ; December 2015
Thymoma and thymic carcinoma: review on diagnostic tools and innovative therapies
Consult the Pubmed abstract
To read more about "Thymoma"
To read more about "Thymic carcinoma"

Eur J Cardiothorac Surg. ; [Epub ahead of print] ; December 2015
Cholangiocarcinoma: review on diagnosis and therapies
Consult the Pubmed abstract
To read more about "Cholangiocarcinoma"

Dig Liver Dis. ; 48(3):231-41 ; March 2016
Paediatric chronic myeloid leukaemia: a review
Consult the Pubmed abstract
To read more about "Chronic myeloid leukemia"

Blood ; 127(4):392-9 ; January, 2016
Cutaneous neuroendocrine carcinoma: a review on guidelines
Consult the Pubmed abstract
To read more about "Cutaneous neuroendocrine carcinoma"

Head Neck ; [Epub ahead of print] ; December 2015
Publication of 16 NORD guides on rare diseases for physicians
The National Organization for Rare Diseases (NORD) has published 16 guides for physicians on:
Atypical haemolytic uremic syndrome
Gaucher disease
Hereditary angioedema
Homozygous familial hypercholesterolaemia
Infantile spasms
Lipodystrophy disorders
Lipoprotein lipase deficiency
Non-tuberculous mycobacterial lung disease
Paroxysmal nocturnal haemoglobinuria
Pompe disease
Treacher Collins syndrome
Tyrosinemia type 1
Urea cycle disorders

One new and four 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:
Lipoid proteinosis

Four updated GeneReviews have been published for:
Familial monosomy 7 syndrome
Congenital fibrosis of the extraocular muscles
Mitochondrial neurogastrointestinal encephalopathy disease
Townes-Brocks syndrome


Orphan Drugs
Regulatory News
EMA fasttracks treatment of multiple myeloma for approval in EU
The European Medicines Agency (EMA) has recommended granting a marketing authorisation for Empliciti (elotuzumab) for the treatment of multiple myeloma. In multiple myeloma, the division of plasma cells becomes out of control, resulting in abnormal, immature plasma cells multiplying and filling up the bone marrow. Empliciti is a monoclonal antibody that works by activating the body’s immune system to attack and kill multiple myeloma cells. It is to be used in combination with lenalidomide and the anti-inflammatory medicine dexamethasone for the treatment of patients who have received at least one prior therapy.
For further information

First specific replacement therapy to treat rare bleeding disorder
The European Medicines Agency (EMA) has recommended granting a marketing authorisation for Coagadex for the prevention of bleeding episodes for patients with factor X deficiency, a rare inherited bleeding disorder. This disorder is caused when the body does not produce enough factor X, which is needed for the blood coagulation (clotting) process. Patients with this condition are more prone to bleeding than other people and show prolonged bleeding after injury or surgery. Coagadex’ active substance is human coagulation factor X, a protein derived from human plasma. It is aimed at the preventive management of bleeding episodes and the control of bleeding during surgical procedures in patients with hereditary factor X deficiency.
For further information

Political and Scientific News
Principles for consistent value assessment and sustainable funding of orphan drugs in Europe
A paper in Orphanet Journal of Rare Diseases has proposed ten principles to be considered when assessing access of orphan medicinal products (OMP), from the perspective of an OMP manufacturer. In these recommendation the authors necessitate three elements which are “the continued prioritization of rare diseases by EU and national policymakers, an appropriate pricing framework centred on OMP value, and mechanisms to ensure long-term financial sustainability of OMPs.”
Read the Open Access article

Scientific framework for assessing biomarker endpoints for novel drugs
A white paper published in Orphanet Journal of Rare Diseases has proposed a scientific framework for assessing biomarker endpoints for novel drugs.

Specific recommendations include:
“1) Establishing regulatory rationale for increased Accelerated Approval access in rare disease programs;
2) Implementing a Biomarker Qualification Request Process to provide the opportunity for an early determination of biomarker acceptance; and
3) A proposed scientific framework for qualifying biomarkers as primary endpoints. The paper’s final section highlights case studies of successful examples that have incorporated biomarker endpoints into FDA approvals for rare disease therapies.

Read the Open Access article



CCG Funding Opportunities
The National Cancer Institute (NCI) has published three companion Funding Opportunity Announcements (FOAs) for Genomic Data Analysis Network Centers to support programs of the Center for Cancer Genomics (CCG). The FOAs are managed by CCG and solicit applications for a Processing Genomic Data Center, aVisualization Genomic Data Center, and a Specialized Genomic Data Center.
Access each of the solicitationshere

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

Congenital Central Hypoventilation Syndrome Family Network
The Congenital Central Hypoventilation Syndrome (CCHS) pilot grant award represents a collaborative effort between the CCHS Family Network and the CCHS Foundation to encourage and support basic, clinical, translational, or epidemiological research to impact the lives of patients with CCHS.

The grant provides up to $30,000 over 1 year for expenses related to the research project, which may include research laboratory supplies, equipment, publication charges for manuscripts that pertain directly to the funded project, and other research expenses. Application Deadline: 29 February, 2016
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.

Homocystinurias and defects of folate and methylation metabolism: practical approaches to diagnosis and treatment Date: 29 February – 2 March, 2016
Venue: Prague, Czech Republic

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

EMA workshop on pre-licencing activities
Date: 9 March, 2016
Venue: Barcelona, Spain

In collaboration with EMA, E-Rare will organize a workshop dedicated to Interactions between EMA and RD researchers on pre-licensing activities. The workshop will take place from 09:00 to 16:00 on the 9 of March 2015 in Barcelona, before the official start of the RE(ACT) meeting. It will be open to all researchers and interested stakeholders.

The places for Face-to-face meetings with EMA officers are limited! If you would like to participate, please send an email to juliane.halftermeyer@agencerecherche.fr for further instructions.

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?

Linking Life Science Data: Design to Implementation, and Beyond
Date: 18-19 February, 2016
Venue: Vienna, Austria

Open PHACTS will be hosting a two day conference which will include a variety of expert speakers and open discussions on linking data in the life sciences domain.
For further information

BPSU Rare Disease Conference 2016
Date: 23 February, 2016
Venue: Birmingham, United Kingdom

The conference will explore the theme ‘Rare disease in paediatrics – from birth to transition’. It will centre on the child's journey from diagnosis through transition and end of life care.
For further information

Multi-stakeholder symposium on improving patient access to rare disease therapies
Date: 24-25 February, 2016
Venue: Brussels, Belgium

EURORDIS and partners will bring together industry, patient leaders, academics, regulators and payers to discuss the current state of play and how to shape a more effective way to address value determination, appraisal, pricing and reimbursement of orphan medicines.
For further information

ELIXIR All Hands 2016
Date: 7 – 10 March, 2016
Venue: Barcelona, Spain

The second ELIXIR All Hands meeting will bring together members of the ELIXIR community from across the ELIXIR Nodes, and collaborators from partner organisations, in order to review ELIXIR achievements and activities so far and discuss plans for the future. Representatives from all ELIXIR Nodes are invited to attend.
For further information

Clinical Innovation & Outsourcing
Date: 9-10 March, 2016
Venue: London, UK

Clinical Outsourcing & Partnering World is the largest industry event focusing on the strategic and operational considerations in clinical outsourcing. It is a place where serious business contacts are made. Attended by senior decision makers, it's a platform which facilitates meetings between your sales force and prospects and it's a cost effective sponsorship package with year round advantage.
For further information

The RE(ACT) Congress
Date: 9-10 March, 2016
Venue: Barcelona, Spain

The congress aims to bring together world leaders and young scientist from a variety of breaking through scientific field to present cutting edge research, to discuss results and to exchange ideas. Moreover, many patients and patient organization, which are committed in research, will be present to share their experience.
For further information

MYOLOGY 2016 Fifth International Congress of Myology
Date: 14-18 March, 2016
Venue: Lyon, France

Held for the first time in 2000, MYOLOGY has become a unique opportunity for international experts in the field to exchange and confront the emerging therapeutic approaches, but also to share the first clinical results. The science and medicine of muscle have reached a new milestone. In Myology 2016, no doubt there will be new results, new breakthroughs to share all together.
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

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

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

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

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

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

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

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


Commercial events

World Pharma Pricing and Market Access
Date: 23-24 February, 2016
Venue: London, United Kingdom

Conference with networking opportunities in the area of pharmaceutical pricing and access to drugs.
For further information

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


Media, Press & Publications
The Lancet Oncology Series on Rare Cancers
Lancet Oncology has published a series of articles on the current state and future outlook of rare cancers. In this series, the review titled Rare cancers: a sea of opportunity describe how common cancers are now a myriad of molecularly defined subsets many of which have immediate clinical relevance. Thus according to the authors rare cancers are forming a larger and larger subset of diseases representing boundless opportunity.

Research methods to change clinical practice for patients with rare cancers describes research methods that are relevant for rare cancers in relation to the range of incidence levels. They describe alternative trial designs which include Bayesian designs, uncontrolled n-of-1 trials, and umbrella and basket trials for rare cancers.

The third article in this series The value of research collaborations and consortia in rare cancers makes a case for a research consortia and “suggest the integration of these consortia with reference networks, which gather multidisciplinary expert centres, for management of rare tumours.”


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 LeCam, Stephen Lynn, Charlotte Rodwell, Domenica Taruscio, Ariane Weinmann Valentina Bottarelli, Victoria Hedley, Yann LeCam, 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

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), 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), Dorra H'mida (Tunisia), Ugur Ozbek (Turkey), Dian Donnai (UK)
Orphanet - All rights reserved
Disclaimer : This presentation is part of the project / joint action N° 677024 / RD-ACTION' which has received funding from the European Union's Health Programme (2014-2020).

Photo credit : Serimedis http://www.serimedis.inserm.fr/ (unless otherwise stated)