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A landmark decision: Belgium and the Netherlands to jointly negotiate purchase of orphan drugs

Minister Edith Schippers of Public Health of the Netherlands and her Belgian counterpart Maggie de Block are teaming up to negotiatiate the prices of expensive drugs with pharmaceutical companies. They have recently issued a statement affirming this collaboration for the purchase of orphan drugs with pharmaceutical groups. Despite the incentives put in place by regulators to produce drugs for rare diseases, pharmaceutical companies often have to recuperate sizeable research costs from a small patient pool, leading to high prices per patient. These prices can be exorbitant which leads to limited access to treatments in many countries.

This is the first instance where two countries are coming together to negotiate prices of orphan drugs and therefore be able to bargain a lower price from the pharmaceutical companies. This decision comes on the heels of the current cost-effectiveness debate and on joint effort to assess properly the added-clinical value of each new drug. This agreement was made on 20 April, 2015 during European Council of Health Ministers in Riga. Representative from both countries believe that working together will enable them to represent more patients and hence be able to “easily negotiate a lower price without sacrificing quality."

A test run will be launched next year, the results of which will be appraised by both health ministers to evaluate the future direction of the initiative. Schippers and De Block hope that other countries will join the initiative after a successful test run as some have showed interest in this initiative in Riga.

National & International Policy Developments
Public consultation on the Australian Life Saving Drugs Programme Review Issues Paper
A review of the Life Saving Drugs Programme (LSDP) which reimburses orphan drugs in Australia is currently in progress. An issues paper on this topic is currently open for public comment until 18 May 2015. Interested organisations and individuals are invited to provide a submission addressing the Issues Paper as well as comment on the draft LSDP Technical Assessment Report.
To make a submission please go to the Public Consultation page.
All information on the Review is available on the LSDP Review web page.

Other European news
208th ENMC international workshop focuses on the formation of a European Network for Pompe disease
The 208th ENMC international workshop brought together twenty-two experts in the field of Pompe disease from nine European countries who gathered in Naarden, the Netherlands in September 2014. The workshop was dedicated towards advancing research on this disorder and provide expert opinion and guidance in clinical areas. A paper detailing the proceedings of the workshop has recently been published in Neuromuscular Disorders. The workshop addressed the important issues of “establishing a European Network on Pompe disease, agreeing on a minimal dataset of outcome measures for adult patients, and developing recommendations on start and stop criteria for ERT for adult Pompe patients . They also decided that the network will serve as an “international contact point for health authorities, to provide advice and expertise on Pompe disease”.
Read the abstract

Other International News
Creation of a centre for rare genetic disorders at CHU Sainte-Justine in Canada
Rio Tinto Alcan has donated CAD 3 million donation to support the creation of a Centre for Rare Genetic Disorders at CHU Sainte-Justine, a well known paediatric and obstetric university health centre affiliated with the Université de Montréal, in Canada. According to the press release of the hospital, the centre will aim to provide support children and their family members who are living with rare genetic conditions, in the Quebec province. CHU Sainte-Justine has said that since this will be the only facility of its kind in Quebec, it will “improve patient care and health outcomes through faster and earlier diagnosis, and the development of effective treatments based on future discoveries”.
For further information

Paediatric population not well represented in the United States Precision Medicine Initiative
A article published in the ACMG Sequence reviews the effect United States Presidents Precision Medicine Initiative will have on the paediatric population, especially children with rare diseases. Out of the USD 215 million earmarked for this initiative, USD 130 will be given to the National Institutes of Health (NIH) to create a voluntary, national research cohort of one million or more individuals. However, the author of this article notes that whether the paediatric population will be represented in this cohort is not known. The author brings forth remarks of several scientists who believe that NIH efforts focusing on rare paediatric genetic diseases, outside of this initiative, is already providing much needed knowledge to the field and believes that paediatric genetics should make this information known to NIH in order to be represented in this initiative.

The article also covers other issues inherent to the initiative such as informed consent: a tricky area when it concerns the paediatric population as well as when it involves covering a large population. The article also tries to understand the role of FDA and its current draft bill which has a provision to accelerate approval of products based on genomic information.
Read the open access article

National Organization for Rare Disorders will award rare disease patients, leaders and innovators at its annual gala
National Organization for Rare Disorders (NORD), the leading nonprofit organisation in United States dedicated to patients with rare diseases, will honour the key stakeholders who are moving the rare disease community forward on May 19 this year, at its annual Portraits of Courage Gala. Distinguished individuals and organisations dedicated to the betterment of the rare disease community, will receive awards in the presence of more than 500 guests who are expected to attend.

The 2015 honorees include:
Abbey S. Meyers Leadership Award
• The International Pemphigus & Pemphigoid Foundation

Industry Innovation Award
• BioMarin Pharmaceutical Inc. – Vimizim (Mucopolysaccharidosis Type IVA, also known as Morquio A Syndrome)
• BOEHRINGER-INGELHEIM Corporation USA – Ofev (Idiopathic Pulmonary Fibrosis)
• Genzyme Corporation – Cerdelga (Gaucher Disease Type I)
• Lundbeck – Northera (Neurogenic Orthostatic Hypotension)
• Novartis Pharmaceuticals – Zykadia (Anaplastic Lymphoma Kinase-Positive Metastatic Non-Small Cell Lung Cancer)
• Vanda Pharmaceuticals Inc. – Hetlioz (Non-24-Hour Sleep-Wake Disorder)

Lifetime Achievement Award
• Francis S. Collins, M.D., Ph.D. – Director, National Institutes of Health

National Health Leadership Award
• The Honorable Lamar Alexander (TN), U.S. Senate
• The Honorable Robert Casey, Jr. (PA), U.S. Senate

Portraits of Courage Award
• Devin Alvarez (Sprengel's Deformity)
• Emily Argersinger (Sturge-Weber Syndrome)
• Laura Crandall (Sudden Unexplained Death in Childhood)
• Anthony Ferrandino (Batten Disease)
• Bailey Gribben (Neurofibromatosis)
• Sophia Hanson (Lymphedema Praecox)
• Savannah Hollis (Cavernous Angioma)
• Glenn and Cara O'Neill (Sanfilippo Syndrome Type A)
• Yusuf Patel (Methyl Melonic Acidemia)
• Lori Sames (Giant Axonal Neuropathy)

Rare Disease Public Awareness Award
• Cindy Abbott (Wegener's Granulomatosis)

Special Recognition
Margaret A. Hamburg, M.D. – Former Commissioner, Food and Drug Administration
For further information

Guidance Documents and Recommendations
Caution with regard to exposure of ataxia telangiectasia patients and heterozygous carriers to ionising radiation
Ataxia telangiectasia is a rare autosomal recessive genetic disease caused by mutations in the ATM gene. This disease is genetic syndrome associated with the highest known radiosensitivity in humans and a stronger predisposition to lymphoma. People carrying heterozygous mutations show no ataxia telangiectasia syndrome, but they have a strong predisposition to cancer. Although no clinical case of tissue radiosensitivity was officially postponed after radiotherapy in heterozygous mutation carriers, the scientific literature suggests caution. For patients with the homozygous mutation, there is an absolute necessity to avoid exposure to ionizing radiation for therapeutic (radiotherapy). Caution should also be exercised while performing diagnostic radiology in these patients. For heterozygous mutation carriers of the ATM gene, exposure to ionizing radiation for diagnostic purposes must be justified and limited.
Read recommendations

Myelodysplastic/myeloproliferative diseases: response assessment guidelines
Consult the Pubmed abstract
Blood ; 125(12):1857-65 ; March 2015
X-linked adrenoleukodystrophy newborn screening in New York state: diagnostic protocol, surveillance protocol and treatment guidelines
Consult the Pubmed abstract
To read more about "X-linked adrenoleukodystrophy"

Mol Genet Metab. ; 114(4):599-603 ; April 2015
Bioinformatics, Registries and Data Management
Canadian Open Genetics Repository a collaborative effort towards clinical genomics
An article published in BMJ describes the Canadian Open Genetics Repository (COGR) as a “collaborative effort for the collection, storage, sharing and robust analysis of variants reported by medical diagnostics laboratories across Canada.” The authors reported that clinical diagnostic laboratories across Canada received instances of the GeneInsight tool to upload, transfer, access and share variant data. The survey conducted by the authors established an increased need for standardisation and data sharing among countries which is an an ongoing endeavour of the COGR. According to the authors, COGR aims to serve as a permanent resource as well as a focal point for the collaboration of Canadian laboratories to aid in diagnosing, managing and treating genetic diseases.
Read the open access article

Recommendation for a pan European registry for childhood cancer
A paper published in the European Journal of Cancer provides an overview of the advantages and challenges of Europe wide coverage for childhood cancer registration compared to regional registration. The authors have stated that since childhood cancer, although rare, contributes considerably to mortality as well as loss of years and poor quality of life in survivors, cancer registries is an essential tool for surveillance, as well as providing the basis for research and policy decisions. The authors identified over 200 cancer registries in various stages of development across Europe. They found that these registries covered 83% of the childhood population in the European Union, but could increase to around 98%, if the recently established cancer registries improved in quality. The authors recommend national registration of cancer over regional registration as they believe it is more cost-effective, can cover larger population, contain data that are less biased which are ready for national and international research.
Read the PubMed abstract

Screening and Testing
Screening for severe combined immunodeficiency: advantages and disadvantages
Based on the French newborn screening program and data from the Reference Center immunodeficiencies (CEREDIH), the authors of an article published in The Journal of Allergy and Clinical Immunology analysed the costs and potential savings related to early management of severe combined immunodeficiency. 30 patients with severe combined immunodeficiency were included in this study. Of these, 27 underwent hematopoietic stem cells after the age of 3 months and 3 underwent transplantation before 3 months. One year after transplantation, 10 of the 27 patients who underwent transplantation after 3 months of age had died, and the 3 patients who underwent early transplantation were all alive. Medical expenses for hematopoietic stem cells after the age of three months amounted to €195,776, while when the transplant was performed before the age of 3 months, costs returned to €86,179. This is explained by the fact that patients who underwent transplants later had active infections caused increased costs with worse outcomes. According to the authors, early detection of severe combined immunodeficiency reduces the cost of treatment from €50 000 to €100 000 per case. While estimating the cost of the test at €5, the incidence required to achieve breakeven should be 1 in 20,000 people. However, the incidence of this disease is estimated between 1 in 50,000 and 1 in 100,000 people. However, if the higher survival rate after early hematopoietic stem cells were to be confirmed, universal screening is likely to be profitable.
Read the PubMed abstract


Ethical, Legal & Social Issues
WHO issues statement in support of all clinical trials to be reported within 12 months of its completion
The World Health Organisation issued a public statement calling for the disclosure of results from clinical trials for medical products, whatever the result, within 12 months of its completion. The WHO believes that the researchers have an ethical duty to report all results of the clinical trials to ensure that decisions related to the safety and efficacy of drugs and medical devices are supported by the best available evidence. Not only does the statement asks for the public release of trial within 12 months of its completion, results from previously unpublished trials also will have to be made public. The WHO calls on organisations and governments to implement these measures. Many believe that this statement belies a new era as it may open the door for informed decision making about procedures and treatments for drugs and medical devices.
Read the public statement by WHO
All trials asks individuals and organisations to take part in this push towards greater transparency.
Visit the All Trials website

Can contributions from rare disease patients proffer innovative solutions
A study published in the Orphanet Journal of Rare Diseases explores“disease-related innovation by patients and their caregivers”. The authors collected innovative solutions that provided by 500 rare disease patients that improves the quality of life if these patients. Subsequently, the authors asked two medical evaluators to assess the novelty and usefulness of these solutions. They reported that the number of truly novel solutions were low, and most other solutions were already being followed by the industry. They also noted that the education level of the patient aided in finding novel solutions and found a “positive relationship between the impact of a solution on the respondents’ overall quality of life and likelihood of solution sharing”.
Finally, the authors encourage rare disease stakeholders to reach out to rare disease patients as a source of innovation as they believe that their solutions could indeed make a great difference to the quality of life of these patients.
Read the open access article

PhRMA revisits the issue of 340B Orphan Drug Rule of the Affordable Care Act of the United States
Pharmaceutical Research and Manufacturers of America (PhRMA) is once again asking for the annulment of a United States (US) Department of Health and Human Services (HHS) interpretative rule on discounts for orphan drugs under the 340B program.

In May 2014, a federal judge of the US stated that HHS had overstepped its authority granted to it by Congress under the Affordable Care Act (ACA). A provision of the ACA made additional types of hospitals eligible for 340B but also barred them from getting deep discounts on “a drug designated by [regulators] for a rare disease or condition.”

The HHS rule, reissued after the federal court decision as an interpretive rule, clarified that the exclusion applied only to orphan drugs used to treat rare diseases and that pharmaceutical manufacturers have to follow the discount requirements when hospitals serving low income populations purchase the drugs for non-rare diseases. PhRMA is hoping once again to overturn a rule requiring pharmaceutical manufacturers to discount orphan drugs when used by eligible clinics and hospitals for non-rare diseases.
For further information

Competencies among primary health care professionals towards understanding rare diseases in Brazil
A study published in the Journal of Community Genetics analysed genetic competencies of primary health care professionals in Brazil, whereby doctors, nurses, and dentists were invited to participate by completing a questionnaire which included 11 issues based on competencies established by the United States National Coalition for Health Professional Education in Genetics (NCHPEG). The study demonstrated that about 80% of the participants recognised basic genetics terminology. However, the authors also discovered that practitioners had difficulty in identifying patterns of inheritance and even though they were able to refer patients accurately, they faced challenges "valuing and gathering information about family history". The study establishes a lack of genetic care competencies among general practitioners, which could be a cause of concern for rare disease patients as these practitioners are their first point of contact. The authors believe that “ The results of this study may contribute to developing an ongoing education program for primary health care professionals, leading to a strategy to overcome the challenges of including genetics in the Brazilian Unified Health System.”
Read the PubMed abstract


New Syndromes

Autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect caused by loss-of-function mutations in AARS
The authors reported three individuals (two siblings and an unrelated individual) with severe infantile epileptic encephalopathy, clubfoot, absent deep tendon reflexes, extra-pyramidal symptoms, and persistently deficient myelination on MRI. Analysis by whole exome sequencing identified mutations in AARS in these two unrelated families.
Consult the Pubmed abstract

Am J Hum Genet. ; 96(4):675-81 ; April 2015
Mandibulofacial dysostosis with alopecia due to mutations in EDNRA
The authors delineated a syndrome they have named mandibulofacial dysostosis with alopecia shared by four individuals. They identified two de novo missense substitutions in EDNRA in these patients.
Consult the Pubmed abstract

Am J Hum Genet. ; 96(4):519-31 ; April 2015
Zinc-responsive acral hyperkeratotic dermatosis
The authors described patients presenting with persistent well-defined hyperpigmented, psoriasiform plaques, with occasional rim of erythema, distributed symmetrically over the acral regions of the body mostly over dorsum of feet extending on to the toes. These cases presented complete lack of response to all modalities of treatment including topical steroids, tacrolimus, and oral methotrexate, but showed a significant response to zinc.
Consult the Pubmed abstract

Indian J Dermatol. ; 60(2):136-41 ; March - April 2015
Partial monosomy of 11q22.2q22.3 including the SDHD gene in individuals with developmental delay
The authors presented five individuals with developmental delay and de novo 11q22.2q23.3 deletions. All deletions included the SDHD gene. All patients showed mild intellectual disability and dysmorphism.
Consult the Pubmed abstract

Am J Med Genet A. ; 167(4):695-700 ; April 2015
Congenital sensorineural deafness, lactic acidemia and progressive hepatic and renal failure caused by a homozygous mutation in MRPS7 in siblings

The authors reported siblings with congenital sensorineural deafness and lactic acidemia in association with combined respiratory chain deficiencies of complexes I, III and IV observed in fibroblasts and liver. One of the siblings had a more severe phenotype showing progressive hepatic and renal failure. Whole exome sequencing revealed a homozygous mutation in MRPS7 in both affected siblings.
Consult the Pubmed abstract
Hum Mol Genet. ; 24(8):2297-307 ; April 2015
Bicuspid aortic valve, aortic coarctation and patent ductus arteriosus potentially associated with MATR3 disruption

The authors identified a subject with a balanced translocation 46,XY,t(1;5)(p36.11;q31.2)dn exhibiting global developmental delay and cardiac left ventricular outflow tract defects, including bicuspid aortic valve, coarctation of the aorta and patent ductus arteriosus. Subtle perturbations in MATR3 expression appear to cause left ventricular outflow defects.
Consult the Pubmed abstract
Hum Mol Genet. ; 24(8):2375-89 ; April 2015

New Genes

Autosomal dominant Robinow syndrome caused by mutations in DVL1
Consult the Pubmed abstracts
To read more about "Autosomal dominant Robinow syndrome"

Am J Hum Genet. ; 96(4):612-22 ; April 2015Am J Hum Genet. ; 96(4):623-30 ; April 2015
Hyperphosphatasia-intellectual disability syndrome due to PIGL mutations
Consult the Pubmed abstract
To read more about "Hyperphosphatasia-intellectual disability syndrome"

Am J Med Genet A. ; 167(4):777-85 ; April 2015
Autosomal recessive primary dystonia, DYT2 type, caused by mutations in HPCA in two kindreds
Consult the Pubmed abstract
To read more about "Primary dystonia, DYT2 type"

Am J Hum Genet. ; 96(4):657-65 ; April 2015
Autosomal recessive chorioretinopathy-microcephaly linked to compound-heterozygous mutations in TUBGCP4
Consult the Pubmed abstract
To read more about "Autosomal recessive chorioretinopathy-microcephaly"

Am J Hum Genet. ; 96(4):666-74 ; April 2015
Microphthalmia with linear skin defects syndrome associated with mutations in NDUFB11
Consult the Pubmed abstract
To read more about "Microphthalmia with linear skin defects syndrome"

Am J Hum Genet. ; 96(4):640-50 ; April 2015
Colobomatous macrophthalmia with microcornea syndrome caused by CRIM1 haploinsufficiency
Consult the Pubmed abstract
Hum Mol Genet. ; 24(8):2267-2273 ; April 2015
Dominantly inherited epithelial recurrent erosion dystrophy due to presumed gain-of-function mutations in COL17A1
Consult the Pubmed abstract
To read more about "Epithelial recurrent erosion dystrophy"

Hum Mutat. ; 36(4):463-73 ; April 2015
Short stature linked to NPR2 functional haploinsufficiency
Consult the Pubmed abstract
Hum Mutat. ; 36(4):474-81 ; April 2015
Brugada syndrome associated with novel SCN10A variants
Consult the Pubmed abstract
To read more about "Brugada syndrome"

Europace ; [Epub ahead of print] ; April 2015
Congenital reticular ichthyosiform erythroderma caused by somatic reversion of KRT1
Consult the Pubmed abstract
To read more about "Congenital reticular ichthyosiform erythroderma"

J Clin Invest. ; 125(4):1703-7 ; April 2015
Congenital microcoria linked to GPR180 deletion
Consult the Pubmed abstract
To read more about "Congenital microcoria"

Am J Hum Genet. ; 96(4):631-9 ; April 2015
West syndrome, early infantile epileptic encephalopathy and early myoclonic encephalopathy caused by de novo mutations in SIK1
Consult the Pubmed abstract
To read more about "West syndrome"
To read more about "Early infantile epileptic encephalopathy"
To read more about "Early myoclonic encephalopathy"

Am J Hum Genet. ; 96(4):682-90 ; April 2015
Hürthle cell thyroid carcinoma associated with MEN1 loss-of-function mutations
Consult the Pubmed abstract
To read more about "Differentiated thyroid carcinoma"

J Clin Endocrinol Metab. ; 100(4):E611-5 ; April 2015
Familial congenital diaphragmatic hernia: contribution of a frameshift mutation in FBN1
Consult the Pubmed abstract
To read more about "Congenital diaphragmatic hernia"

Am J Med Genet A. ; 167(4):831-6 ; April 2015
Hirschsprung disease: SEMA3C and SEMA3D as major susceptibility factors
Consult the Pubmed abstract
To read more about "Hirschsprung disease"

Am J Hum Genet. ; 96(4):581-96 ; April 2015
Behçet disease: genome-wide association study reveals IL12A as a new susceptibility factor
Consult the Pubmed abstract
To read more about "Behçet disease"

PLoS One. ; 10(3):e0119085 ; March 2015
Arthrogryposis multiplex congenital might be caused by ECEL1 missense mutation in a consanguineous family
Consult the Pubmed abstract
To read more about "Arthrogryposis multiplex congenita"

Am J Med Genet A. ; 167(4):731-43. ; April 2015
Persistent Müllerian duct syndrome: FGFR2 and NOTCH2 as candidate genes
Consult the Pubmed abstract
To read more about "Persistent Müllerian duct syndrome"

Am J Med Genet A. ; 167(4):791-6 ; April 2015
Familial focal epilepsy syndrome with focal cortical dysplasia may be due to germline, germline mosaic, and brain somatic DEPDC5 mutations
Consult the Pubmed abstract
To read more about "Cortical dysplasia - focal epilepsy syndrome"

Ann Neurol. ; 77(4):675-83 ; April 2015
Non-syndromic retinitis pigmentosa: AHI1 as a novel candidate gene
Consult the Pubmed abstract
To read more about "Retinitis pigmentosa"

Genet Med. ; 17(4):271-8 ; April 2015

Research in Action

Clinical Research
Phenylketonuria: long-term safety and efficacy of sapropterin
Consult the Pubmed abstract
To read more about "Phenylketonuria"

Mol Genet Metab. ; 114(4):557-63 ; April 2015
Hurler syndrome: long-term prognosis of patients receiving hematopoietic cell transplantation can be improved by reducing the age at transplantation
Consult the Pubmed abstract
To read more about "Hurler syndrome"

Blood ; 125(13):2164-72 ; March 2015
Common variable immunodeficiency: mitigated results with hematopoietic stem cell transplantation
Consult the Pubmed abstract
To read more about "Common variable immunodeficiency"

J Allergy Clin Immunol. ; 135(4):988-997 ; April 2015
Cryoglobulinemic vasculitis: clearance of hepatitis C virus leads to persistent resolution or improvement of the disease
Consult the Pubmed abstract
To read more about "Cryoglobulinemic vasculitis"

Hepatology ; 61(4):1145-53 ; April 2015
Primary biliary cirrhosis: efficacy of obeticholic acid in patients with inadequate response to ursodeoxycholic acid
Consult the Pubmed abstract
To read more about "Primary biliary cirrhosis"

Gastroenterology ; 148(4):751-761 ; April 2015
Acromegaly-safety and efficacy of a novel oral octreotide formulation
Consult the Pubmed abstract
To read more about "Acromegaly"

J Clin Endocrinol Metab. ; 100(4):1699-708 ; April 2015
Waldenström macroglobulinemia: ibrutinib is highly active, associated with durable responses, and safe in previously treated patients
Consult the Pubmed abstract
To read more about "Waldenström macroglobulinemia"

N Engl J Med. ; 372(15):1430-40 ; April 2015
Relapsed or refractory chronic lymphocytic leukemia: entospletinib demonstrates clinical activity with acceptable toxicity
Consult the Pubmed abstract
To read more about "B-cell chronic lymphocytic leukemia"

Blood ; 125(15):2336-43 ; April 2015
Relapsed refractory chronic lymphocytic leukemia: most patients who discontinued ibrutinib early were difficult to treat and had poor outcomes
Consult the Pubmed abstract
Blood ; 125(13):2062-7 ; March 2015
Pituitary carcinoma and adenoma: temozolomide is a valuable treatment option for patients with uncontrolled pituitary tumours
Consult the Pubmed abstract
To read more about "Pituitary carcinoma"
To read more about "Pituitary adenoma"

J Clin Endocrinol Metab. ; 100(4):1689-98 ; April 2015J Clin Endocrinol Metab. ; 100(4):1689-98 ; April 2015
Beare-Stevenson cutis gyrata syndrome: phenotype extension
Consult the Pubmed abstract
To read more about "Cutis gyrata - acanthosis nigricans - craniosynostosis"

Am J Med Genet A. ; 167(4):852-7 ; April 2015
Multiple endocrine neoplasia type 1 occurring before 21 years old: a cohort study
Consult the Pubmed abstract
To read more about "Multiple endocrine neoplasia type 1"

J Clin Endocrinol Metab. ; 100(4):1568-77 ; April 2015
Therapeutic Approaches

Hemophilia A: intraosseous delivery of lentiviral vectors targeting factor VIII expression in platelets corrects the disease phenotype in a mouse model
Consult the Pubmed abstract
To read more about "Hemophilia A"

Mol Ther. ; 23(4):617-26 ; April 2015
Sanfilippo syndrome type A: a single systemic self-complementary AAVrh74 vector delivering the human SGSH gene results in a near complete correction of the molecular pathology
Consult the Pubmed abstract
To read more about "Sanfilippo syndrome type A"

Mol Ther. ; 23(4):638-47 ; April 2015
Duchenne muscular dystrophy: intra-amniotic rAAV-mediated microdystrophin gene transfer improves canine X-linked muscular dystrophy
Consult the Pubmed abstract
To read more about "Duchenne muscular dystrophy"

Mol Ther. ; 23(4):627-37 ; April 2015
Huntington disease: novel knock-in mouse model with early white matter abnormalities, progressive brain pathology and motor deficits
Consult the Pubmed abstract
To read more about "Huntington disease"

Hum Mol Genet. ; 24(9):2508-27 ; May 2015
Diagnostic Approaches

Von Willebrand disease: diagnostic approach
Consult the Pubmed abstract
To read more about "Von Willebrand disease"

Blood ; 125(13):2029-2037 ; March 2015
Systemic amyloidoses: immunoelectron microscopy of abdominal fat aspirates is an effective tool in the routine diagnosis
Consult the Pubmed abstract
Blood ; 125(14):2239-44 ; April 2015
Leukodystrophies and genetic leukoencephalopathies: Global Leukodystrophy Initiative consensus recommendations for an approach to clinical diagnosis
Consult the Pubmed abstract
Mol Genet Metab. ; 114(4):501-515 ; April 2015
Fetal alcohol syndrome: a South African mixed race lip/philtrum guide for diagnosis
Consult the Pubmed abstract
To read more about "Fetal alcohol syndrome"

Am J Med Genet A. ; 167(4):752-5 ; April 2015
Neuroendocrine tumour: cocaine- and amphetamine-regulated transcript is a useful marker for identifying pancreatic neuroendocrine tumours and phaeochromocytomas/paragangliomas
Consult the Pubmed abstract
To read more about "Endocrine tumor"

J Clin Endocrinol Metab. ; 100(4):1520-8 ; April 2015
Inherited retinal dystrophies: navigating the current landscape of clinical genetic testing
Consult the Pubmed abstract
To read more about "Usher syndrome"
To read more about "Leber congenital amaurosis"
To read more about "Stargardt disease"
To read more about "Retinitis pigmentosa"
To read more about "Cone rod dystrophy"
To read more about "Choroideremia"

Genet Med. ; 17(4):245-252 ; April 2015

Patient Management and Therapy
Mucopolysaccharidoses: review on enzyme replacement and gene therapy
Consult the abstract
Expert Opinion on Orphan Drugs ; 3(4):433-444 ; April 2015
Hemophilia: review on optimal treatment strategies
Consult the Pubmed abstract
To read more about "Hemophilia"

Blood ; 125(13):2038-2044 ; March 2015
Hemophilia A: review on FVIII inhibitors
Consult the Pubmed abstract
To read more about "Hemophilia A"

Blood ; 125(13):2045-2051 ; March 2015
Alopecia areata and its rare forms: review on pharmacotherapy
Consult the abstract
To read more about "Alopecia universalis"
To read more about "Alopecia totalis"

Expert Opinion on Orphan Drugs ; 3(4):419-431 ; April 2015
Soft tissue sarcoma: review on aldoxorubicin for the treatment
Consult the abstract
Expert Opinion on Orphan Drugs ; 3(4):457-466 ; April 2015
Acute lymphoblastic leukemia: review on blinatumomab for the treatment
Consult the abstract
To read more about "Acute lymphoblastic leukemia"

Expert Opinion on Orphan Drugs ; 3(4):477-485 ; April 2015
Ocular disease in methylmalonic acidemia with homocystinuria, type cblC: a review
Consult the Pubmed abstract
To read more about "Methylmalonic acidemia with homocystinuria, type cblC"

Mol Genet Metab. ; 114(4):537-546 ; April 2015
Rare bleeding disorders: review on diagnosis and treatment
Consult the Pubmed abstract
Blood ; 125(13):2052-2061 ; March 2015
Achalasia: review on new diagnostic tests and treatments
Consult the abstract
To read more about "Idiopathic achalasia"

Expert Opinion on Orphan Drugs ; 3(4):403-417 ; April 2015
Juvenile systemic sclerosis: a review
Consult the Pubmed abstract
Curr Rheumatol Rep. ; 17(3):18 ; March 2015
Systemic sclerosis: review on recent advances in the genetics
Consult the Pubmed abstract
To read more about "Systemic sclerosis"

Curr Rheumatol Rep. ; 17(3):21 ; March 2015
Ehlers-Danlos syndrome: review on genetics
Consult the abstract
Expert Opinion on Orphan Drugs ; 3(4):379-392 ; April 2015
Chikungunya: a review
Consult the Pubmed abstract
To read more about "Chikungunya"

N Engl J Med. ; 372(13):1231-9 ; March 2015
Plasmablastic lymphoma: review on biology and treatment
Consult the Pubmed abstract
To read more about "Plasmablastic lymphoma"

Blood ; 125(15):2323-2330 ; April 2015
Special issue of the American Journal of Medical Genetics Part C on Ehlers-Danlos syndrome, hypermobility type
Consult the special issue
To read more about "Ehlers-Danlos syndrome, hypermobility type"

American Journal of Medical Genetics Part C ; 169(1):1-129 ; March 2015
One new and six updated GeneReviews published
GeneReviews are expert-authored, peer-reviewed disease descriptions ("chapters") presented in a standardised 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:
Carbonic anhydrase VA deficiency

Six updated GeneReviews have been published for:
ALK-related neuroblastic tumor susceptibility
X-linked adrenoleukodystrophy
Mucopolysaccharidosis type II
Ataxia with oculomotor apraxia type 1
Duane syndrome
Pulmonary fibrosis, familial


Orphan Drugs
The discovery of medicines for rare diseases
An article published in Future Medicinal Chemistry has presented an analysis of the orphan drugs classified as new molecular entities(NMEs) that have been approved by the US FDA between 1999 and 2012 for rare diseases They found that out of the 102 orphan NMEs analysed 46 were first in class – “discovered with phenotypic assays, target-based approaches and biologic strategies”, 51 were followers of these drugs and five were imaging agents. In general their analysis demonstrated that “greater knowledge increases the chance of success and empirical solutions can be effective when knowledge is incomplete”.
Read the PubMed abstract

Regulatory News
Committee for Orphan Medicinal Products (COMP) meeting report on the review of applications for orphan designation for April 2015
The European Medicines Agency Committee for Orphan Medicinal Products (COMP) adopted thirteen positive opinions issued at the April 2015 COMP meeting for:

- the treatment of ovarian cancer
- two treatments of Huntington’s disease
- the treatment of mucopolysaccharidosis IIIC
- the treatment of myasthenia gravis
- the treatment of plasma cell myeloma
- the treatment of non-infectious uveitis
- the treatment of cystic fibrosis
- the treatment of thromboangiitis obliterans
- the treatment of perinatal asphyxia
- the treatment of diffuse large B-cell lymphoma
- the treatment of oculopharyngeal muscular dystrophy
- the treatment of glucose transporter type-1 deficiency syndrome

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

Political and Scientific News
Factors influencing drug development in lysosomal storage disorders in the United States
An article published in the Orphanet Journal of Rare Diseases assessed 'which lysosomal diseases had drug development pressure and what distinguished those with successful development and approvals from diseases not treated or without orphan drug designation. The authors found that out of the fourteen drugs for seven lysosomal storage disorders receiving FDA approval, 10 of them were enzyme replacement therapies, 1 was a substrate reduction therapies, and 3 were small molecules facilitating lysosomal substrate transportation therapy. The authors reported that generally “drug development focused on more common diseases, (while) primarily neurological diseases were neglected”. Furthermore, they observed that “small clinical trials with either somatic or biomarker endpoints were successful (as was) enzyme replacement therapy”.
Read the open access article

Access to new medicines in Europe: a WHO report
The WHO report, Access to new medicines in Europe: technical review of policy initiatives, opportunities for collaboration and research illustrates the challenges faced by the national health systems in the WHO European Region where only a handful of countries are able to appraise the cost–effectiveness of new drugs. The report makes a special mention of orphan drugs as well as the cross border initiatives benefiting rare disease patients.

This study furnishes information on the methods used by the health authorities of 27 European countries when dealing with high spending on new medicines. The report emphasises that there is a lack of transparency in the process of negotiating the prices of drugs between the governments and the pharmaceutical companies. Additionally the supply and prices of new medicines are often fixed in framework agreements between governments and pharmaceuticals.

The report outlines possible policy directions and choices that may help governments to reduce high prices when introducing new drugs and recommend strengthening collaboration and transparency in policy-making as well as cooperation between governments, regulators and drug companies. Particular focus is given to chronic care, specialty medicines and rare diseases (orphan drugs).



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

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

Care-for-rare science award 2015
The Care-for-Rare Foundation awards two prizes a year, in order to encourage young researchers to continue their research into rare diseases. The Dr. Holger Müller Prize, endowed with €5000, is awarded to individual researchers or research groups who have published an outstanding contribution to the study of rare diseases in the previous year.
For further information


Partnersearch, Job Opportunities
PhD fellowships from Kindness for Kids foundation
In collaboration with EuroBioBank and RD-Connect this PhD fund a PhD project that uses an in vitro experiment to help develop a new treatment in the area of rare paediatric diseases. For the project to be eligible, patient biomaterials from EuroBioBank and/or RD-Connect should be used in the study. The PhD project should develop or test a new treatment, identify therapeutic targets or employ a screening platform in the area of rare paediatric diseases using in vitro experiments. The experimentations of the PhD project must be to a major extent based on samples from a biobank associated with EuroBioBank and/or RD-Connect. Further collaborations with these two initiatives are strongly encouraged. The application has to be emailed in English as pdf attachments by June 15th 2015 to Dr. Julia Barske.

Courses & Educational Initiatives

Promoting high quality scientific research in paediatric medicines
Date: 28 May 2015
Venue: London, United Kingdom

EnprEMA will hold its 7th annual workshop on 28 May 2015 at the EMA. The aim of the annual workshop is to promote the conduct of high quality paediatric clinical studies.
Visit the EURORDIS website for more information.

Annual workshop of the European network of paediatric research at the European Medicines Agency
Date: 28-29 May, 2015
Venue: London, United Kingdom

Day one of the workshop, 28 May, is an open meeting to all stakeholders: patient/parent organisations, network representatives, pharmaceutical industry staff responsible for paediatric studies and regulators. Day two, 29 May is dedicated to members of EnprEMA and its Coordinating Group. Registration is open until 15 May 2015 using the registration form.
Visit the EURORDIS website for more 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.

2015 1st PHENO Workshop
Date: 15 – 16 June 2015
Venue: Paris, France

The main goal of our workshop is to promote the use of behavioral approaches in translational research projects. Studying behavior in vivo is fundamental to characterize new disease models and evaluate drug efficacy at a functional level, leading to improvement in diagnosis and treatment.
Visit the EURORDIS website for more information.

2015 Genodermatoses Network Training Session
Date: 19 June 2015
Venue: Lasi, Romania

This training session is aimed at Health care providers including physicians -such as dermatologists, pediatricians, neonatologists- researchers, students, residents and others who can work together in the field of genodermatology. Topics will include discussions around ectodermal dysplasia, epidermolyisis bullosa, ichtyosis, neurofibromatosis, netherthon syndrome, nevus comedonicus, porphyria, tuberous sclerosis.
Visit the Genodermatoses website for more information.

Genetics of intellectual disability: an update
Date: 25 – 27 June 2015
Venue: Braga, Portugal

The aim of this course is to provide an update on the genetic basis of intellectual disability (ID). ID is a prominent feature in a large and heterogeneous set of hereditary conditions. This course is planned for a target audience of Pediatricians, Pediatric Neurologists, Pediatric Psychiatrists, Medical Geneticists, Psychologists, Family doctors, and graduate students in the fields of Neurosciences and Genetics. Other health professionals are also welcome. The course idiom will be English.
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.

Workshop on haemophilia registries
Date: 1 -2 July 2015
Venue: London, United Kingdom

The aim of this workshop will be to identify strengths and weaknesses of registries from the perspective of providing safety and efficacy data on products, and to consider approaches/initiatives to strengthen this.
Visit the EURORDIS website for more information.

The 2nd Biennial Australian Rare Lung Disease Short Course
Date: 16-17 October, 2015
Venue: Sydney, Australia

The joint venture between Lung Foundation Australia and the Thoracic Society of Australia and New Zealand (TSANZ) will provide updates on the latest in research, diagnosis, therapy and care for Interstitial Lung Disease. The program boasts an exceptional selection of Australian specialists as well as keynote presentations from international speaker, Professor Kevin Flaherty (USA).
For further information or to register please visit: www.lungfoundation.com.au.

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.
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?

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

3rd ELA Scientific Congress
Date: 24-26 June, 2015
Venue: Paris, France

Speakers with expertise in leukodystrophies, myelin biology, neuroimaging, stem cell research and gene therapy will participate to the congress to share and discuss recent advances and cutting-edge science in these fields with the ultimate goal to fight and eventually find a cure for the disabling leukodystrophies and myelin diseases.
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

Orphan Drugs & Rare Diseases Global Congress
Date: 29 June- 1 July, 2015
Venue: London, United Kingdom

This conference provides a unique platform for an intimate & interactive knowledge sharing and convergence of top tier government, pharmaceuticals, biopharmaceuticals, hospitals, non-profit organisations, orphan drugs developers as well as regional and local manufacturers to discuss the driving macroeconomic factors, policies and issues that will steer the development of orphan drugs globally.
For further information

The First Russian Congenital Aniridia Conference
Date: 3-4 July, 2015
Venue: Moscow, Russia

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

4th Congress on Mitochondrial Medicine
Date: 9-10 July, 2015
Venue: Salzburg, Austria

The meeting addresses the importance of mitochondrial pathology in neurology, pediatrics and beyond. An overview on the newest research developments and important clinical aspects will be provided. Deadline for the submission of scientific abstracts is May 15th and for early registration is June 1st.
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: Missouri, 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

International VHL Symposium for young adults
Date: 30 July – 3 August, 2015
Venue: Utrecht, The Netherlands

The aim of the event is to create the opportunity to network and share global experiences with VHL. Another important part of the programme is designed to increase age-specific VHL-related knowledge.
For further information

SSIEM Official Satellite Symposia Second World Conference on Congenital Disorders of Glycosylation
Date: 28-30 July, 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

SSIEM Annual symposium
Date: 1-4 September, 2015
Venue: Lyon, France

For further information

26th European Dysmorphology Meeting
Date: 9-10 September, 2015
Venue: Le Bischenberg, France

The principal aim of this meeting has been to bring young clinical geneticists and trained dysmorphologists together to share their professional experiences and present their clinical challenges. EuroDysmorpho is open to any presentation in the field of human development.
For further information

DEBRA International Conference & EBCLINET
Date: 24-26 September, 2015
Venue: London, United Kingdom

The 3rd conference of EB-CLINET is open to all network partners as well as other interested people who would like to gain a better understanding of the condition, the network and/or contribute to improving the medical care or the quality of life for those affected by EB.
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
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

Annual joint DIA/EFGCP/EMA Better Medicines for Children Conference
Date: 1-2 October, 2015
Venue: London, UK

This year’s DIA/EFGCP/EMA annual paediatric conference will focus on ways to overcome challenges faced during drug development for the paediatric population, such as through collaboration, extrapolation, modelling & simulation and adaptive pathways.
For further information

47th Congress of the International Society of Paediatric Oncology
Date: 8 – 11 October, 2015
Venue: Cape Town, South Africa

This stimulating scientific programme will facilitate the exchange of ideas and information in paediatric oncology.
For further information

The AANEM Annual Meeting
Date: 28 -31 October, 2015
Venue: Hawaii, United States

The AANEM Annual Meeting is the premier educational event for those involved in neuromuscular (NM) and electrodiagnostic (EDX) medicine. Earn over 30 continuing education credits through interactive workshops, lively discussions, and engaging sessions.
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

International Conference on Sanfilippo Syndrome and related Lysosmal Storage Diseases
Date: 26 – 28 November, 2015
Venue: Geneva, Switzerland

The aim of this second unique forum is to bring together some 200 participants from around the world, including scientists and clinicians, start-up leaders, and families of patients groups, to inform and strengthen exchange and cooperation.
For further information

MYOLOGY 2016 Fifth International Congress of Myology
Date: 14-18 March, 2015
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

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

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

Orphan Drugs Access & Economics Masterclass
Date: 9 - 10 June, 2015
Venue: Berlin, Germany

You will hear about EU regulation, programmes and mechanisms, adaptive licensing, methods for economic evaluation, alternative ways to raise funds and finance orphan drugs, pricing and reimbursement models.
For further information

Orphan Drugs Summit 2015
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.


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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