30 July 2016 print
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Editorial
 
Status Quo of European Reference Networks
 

2016 is an exciting year for the rare disease community: this is the year which saw the first call for European Reference Networks (ERNs) and the first proposals submitted. (An ERN is -or will be- a network connecting providers of highly specialised healthcare, for the purposes of improving access to diagnosis, treatment and high-quality care for patients with conditions requiring a particular concentration of resources or expertise.) The five years since the publication of the Directive on the Application of Patients’ rights in cross-border healthcare (Directive 2011/24/EU) have been filled with concerted efforts and hard work by thousands of rare disease stakeholders across Europe, to move the ERN concept into reality.

The fruits of these efforts are the 24 Network proposals submitted to the European Commission in June and July. The potential Coordinators of the proposed Networks are based in 7 EU Member States: Austria; France; Germany; Italy; Netherlands; Spain; United Kingdom. However, as over 800 healthcare providers (centres with specialised expertise) have applied to partner in these proposals, there is strong pan-European participation. At present, the ERN proposals and the accompanying applications for membership are being reviewed and assessed according to the formal DG Sante procedure. The successful Networks should be approved by the end of this year.

The ERN deadline coincided with the end of the 1st year of RD-ACTION, the Joint Action for rare diseases, a key focus of which has been in fact to support the rare disease field in developing and implementing robust ERN proposals. For instance, the RD-ACTION team at Newcastle University established a ‘Matchmaker’ resource to support RD experts in organising themselves into collaborative –as opposed to competing- proposals, adhering to the rare disease Groupings recommended by the Commission Expert Group on Rare Diseases. The team worked closely with clinical groups and existing networks to develop single, comprehensive proposals in each area. The resulting proposals –none of which have yet been approved, of course- are summarised here . Meanwhile, RD-ACTION partner EURORDIS initiated the European Patient Advisory Groups (ePAGs) to support meaningful patient participation in ERNs.

With the ERN proposals now submitted, implementation of the first Networks becomes ever closer and several relevant activities are converging:
• The Tender concerning the study on the services to be provided by the ERNs and their members, awarded to PricewaterhouseCoopers, will hold its final workshop in September, and will shortly after deliver its final outputs (including a proposed catalogue of healthcare services to be provided by the future ERNs, along with cost drivers)
• 19th July was the deadline for ‘Requests to Participate’ in the Tender for the ERNs’ ‘IT platform’ (formally called ‘the Scalable Software as a Service for a clinical patient management system to support ERNs in the diagnosis and treatment of rare or low prevalence complex diseases or conditions across national borders’. A period of competitive dialogue will now commence.
• The Board of Member States of ERNs will convene next in September, and will meet with the potential Coordinators to discuss key issues such as how to involve all Member States & EEA countries in each Network (particularly important for the smaller countries) to ensure meaningful pan-European access.
• RD-ACTION Policy workpackage will follow-up this important meeting with the first in a series of workshops designed to support the Networks and generate guidance on key topics such as standardising and sharing data for care, integrating with rare disease research infrastructures, supporting the development of Orphan Medicinal Products and more. This will help to ensure that the ERNs embody the good practices already defined and deployed by the broader rare disease field, to complement the state of the art in care and research.
 
Happy Summer: we look forward to your continued readership in September
 
OrphaNews International will be back in early September. We take this opportunity to wish all our readers a pleasant and relaxing summer.



 


 
National & International Policy Developments
 
Other European news
 
Experience of a multidisciplinary task force in Switzerland with exome sequencing for Mendelian disorders
 
In an article published in Human Genomics, the authors describe the creation of a multidisciplinary “Genome Clinic Task Force” at the University Hospitals of Geneva, to integrate the utilisation of exome sequencing for clinical diagnostics of mendelian disorders. According to the authors, this task force, which is comprised of clinical and molecular geneticists, bioinformaticians, technicians, bioethicists, and a coordinator discusses clinical cases of heterogeneous mendelian disorders in a holistic manner. Apart from the cases that benefit from high-throughput sequencing, they also debate and discuss interpretation of variants, bioethics, counselling as well as reimbursement. The authors highlight that “this task force was instrumental to formally approve the reimbursement of HTS for molecular diagnosis of Mendelian disorders in Switzerland.”
Read the Open Access article

 
Other International News
 
A correlative study determining equity for health expenditure among rare disease patients in China
 
In China, the diagnosis of rare diseases could lead a famhas not established social security system for rare diseases. Rare diseases could easily impoverish patients and their families. A study published in Chinese Medical Journal has discussed “the equity and accessibility of health services for patients with rare diseases in China.” This correlative study found that most of the surveyed patients spent money out of pocket to seek treatment. The authors state that the out of pocket health expenditure of patients with Urban Employee Basic Medical Insurance (UEBMI) – a health insurance scheme offered by the Chinese government was significantly more than that of patients without medical insurance. The study also reported that the “current reimbursement policies (in China) have increased the equity of health expenditure, but are biased toward high‑income people.”
Read the Open Access article

 
Open for public consultation: two draft guidances on next generation sequencing by the FDA
 
The Food and Drug Association (FDA) in the United States has issued two draft guidances that will provide regulatory oversight for the use of next generation sequencing (NGS) based tests. The first draft guidance, titled, “Use of Standards in FDA’s Regulatory Oversight of Next Generation Sequencing (NGS) Based In Vitro Diagnostics (IVDs) Used for Diagnosing Germline Diseases” provides recommendations for designing, developing, and validating NGS based tests for rare hereditary diseases, and addresses the potential for using FDA recognised standards to demonstrate how well a test predicts the presence or absence of a particular genomic change.

The second draft guidance, titled, “Use of Public Human Genetic Variant Databases to Support Clinical Validity for Next Generation Sequencing (NGS) Based In Vitro Diagnostics” describes an approach wherein test developers may rely on clinical evidence from FDA recognised public genome databases to support clinical claims for their tests and provide assurance of accurate clinical interpretation of genomic test results - allowing for an easier path for marketing clearance or approval.

Both these documents are open for public consultation. DEADLINE FOR COMMENT: September 7, 2016

 
Whole exome sequencing diagnosis in United Arab Emirates
 
An article published in the Orphanet Journal of Rare Diseases has reported on the usage of whole exome sequencing (WES) to diagnose children with inborn errors of metabolism and other disorders in a metabolic centre at Tawam Hospital in Abu Dhabi. The authors report that exome sequencing confirmed the diagnosis of inborn errors of metabolism and genetic disorders in 50% of patients. They also report that whole exome sequencing provided population specific information which in turn helps reaching a molecular diagnosis. The authors believe that careful interpretation of the results with a competent staff is extremely important in obtaining consent and proper pre and post counselling.
Read the Open Access article

 
Financing rare diseases: a pending task in Peru
 
A letter to the Editor of Revista Peruana de Medicina Experimental y Salud Pública points out the need for legislation that will help finance orphan drugs in Peru. The Constitution of Peru states that everyone is entitled to protection of their health and that it is in the interest of the government to work towards prevention, diagnosis, care comprehensive health and rehabilitation of persons with rare diseases.

Thus in Peru high-cost diseases that are not included in the Essential Health Insurance Plan can be financed by the Intangible Solidarity Fund Health (FISSAL). However, the author notes that initially the financial support was insufficient and has gone on to fund common cancers and chronic renal failure and has left aside funding of rare diseases.

The authors believe that in sum, while it is not possible to finance all rare diseases because costs very high, it is the starting point of a complex challenge for progress towards justice and equity towards access to healthcare to everybody.
Read the letter

 
Guidance Documents and Recommendations
 
X-linked central congenital hypothyroidism with late-onset testicular enlargement: recommendations for clinical management
 
Consult the Pubmed abstract
 
To read more about "X-linked central congenital hypothyroidism with late-onset testicular enlargement"

 
J Clin Endocrinol Metab. ; 101(4):1627-36 ; April 2016
 
Primary aldosteronism: recommendations for the management
 
Consult the Pubmed abstract
 
J Clin Endocrinol Metab. ; 101(5):1889-916 ; May 2016
 
Hypoparathyroidism: recommendations for the management and the diagnosis
 
Consult the Pubmed abstracts
 
J Clin Endocrinol Metab. ; 101(6):2273-83; 2284-99; 2300-12; 2313-24 ; June 2016
 
Atypical haemolytic-uremic syndrome: clinical guides
 
Consult the Pubmed abstract
 
To read more about "Atypical hemolytic-uremic syndrome"

 
Clin Exp Nephrol. ; 20(4):536-43 ; August 2016
 
Cockayne syndrome: recommendations for care
 
Consult the Pubmed abstract
 
To read more about "Cockayne syndrome"

 
Genet Med. ; 18(5):483-93 ; May 2016
 
Acute lymphoblastic leukaemia: consensus definitions of 14 severe treatment toxic effects
 
Consult the Pubmed abstract
 
To read more about "Acute lymphoblastic leukemia"

 
Lancet Oncol. ; 17(6):e231-9 ; June 2016
 
Bioinformatics, Registries and Data Management
 
Description of a registration system for a rare viral myelopathy in Japan
 
The authors of an article published in the Orphanet Journal of Rare Diseases describe the creation of a national registration system in Japan for HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) called “HAM-net”. HAM/TSP is a rare viral disease in which patients suffer from progressively worsening myelopathic symptoms, such as motor disability and bladder dysfunction. Most patients in the registry are from the southernmost regions of Japan – Kyushu and Okinawa. According to the authors the registration system provided information on the main initial complaints as well as frequently recorded complaints of these patients. They also reported that physical functioning was severely impaired in HAM/TSP patients wherein older patients with a history of blood transfusion suffered from more severe disability. According to the authors “HAM-net” national registration system has been an effective tool for gathering personal and clinical data which will help produce retrospective and prospective epidemiological studies.
Read the Open Access article

 
Screening and Testing
 
Molecular newborn screening of four genetic diseases in Guizhou Province of South China
 
A study on the molecular newborn screening of four genetic diseases - beta-thalassemia, glucose-6-phosphate dehydrogenase deficiency, phenylketonuria, and non-syndromic hearing loss and deafness in Guizhou Province is published in Gene. They reported that 48 out of 515 newborns screened carried mutations related to these diseases. The study provides carrier frequencies and incidences of these four diseases which, according to the authors, will be useful for the prevention and genetic counseling.
Read the Pubmed abstract

 


 
Ethical, Legal & Social Issues
 
Engaging participants in rare disease research
 
The small population size severely advances in producing therapeutics for Duchenne muscular dystrophy (DMD). Recruiting for clinical trials is difficult, so a study published in Clinical Therapeutics “investigated family-centered and clinician-based knowledge, attitudes, and perceptions of engagement in clinical research in DMD.”

The authors report that lack of accessible and coherent information, openly conversing about the needs, the barriers and incentives towards engagement in clinical research and finally the solutions were the five themes that emerged. The authors believe that in order to effectively engage and recruit rare disease patients for clinical trials requires a multifaceted effort with clear plans and a committed approach.
Read the Pubmed abstract

 
Mucopolysaccharidosis I: Parental beliefs about the impact of disease on the quality of life of their children
 
A study in the Orphanet Journal of Rare Diseases, assessed the effect of Mucopolysaccharidosis (MPS) I on the quality of life of children affected by severe and non-severe variants of this disease, as perceived by the parents. The authors report that the parents were concerned about the physical symptoms as well as the difficulties observed by these children due to these symptoms at school. According to the study “the presence of airway disease has a profound impact on the emotional well-being of parents whilst language delay and musculoskeletal disease have the biggest impact on the quality of life of the children themselves.”
Read the Open Access article

 
Perceptions of Maldivian parents of children with thalassemia who did not take part in screening
 
Maldives has one of the world’s highest thalassemia carrier rates which is exacerbated by poor uptake of screening. A study published in the Journal of Community Genetics explored why Maldivians opted to not test for the disease prior to marriage. The authors studied the responses of parents of children with beta-thalassemia who opted to not screen for the condition. The authors found that lack of awareness of the testing procedure as well as the consequences of the disease and other cultural factor were the main barriers to testing. The authors found that even though many reported that they would not marry if they had known the carrier status, refusing a marriage proposal on this basis was not considered culturally acceptable. Additionally, the study reported that religion played an important role as many respondents believed in “allahs will”, if they had children with the disease.
Read the Pubmed abstract

 
Quality of Life in CHARGE Syndrome patients
 
A study on the health-related quality of life of patients with CHARGE syndrome was published in Americal Journal of Medical Genetics. According to the authors patients with CHARGE syndrome aged13–39 years suffered bone health issues, sleep apnea, retinal detachment, anxiety, and aggression. These issues affected the social activities and relationships. The authors report that just like the physical features, the quality of life of these patients range from mild to very severe. The patients reported more mentally unhealthy days than the average American. They highlight the diagnosis did not lead to lower quality of life, but was determined by social support. The authors recommend that issues with sleep and anxiety are potential areas of intervention to improve quality of life.
Read the Pubmed abstract

 


 
New Syndromes
 



 
Four patients with 9q33.3q34.11 microdeletion encompassing STXBP1, LMX1B and ENG genes
 
The authors recruited four patients carrying de novo overlapping deletions of chromosome 9q33.3q34.11, including the STXBP1, the LMX1B and the ENG genes. Patients displayed common clinical features, including intellectual disability with epilepsy, nail dysplasia and bone malformations, in particular patellar abnormalities, epistaxis and cutaneous-mucous telangiectasia, as well as common facial dysmorphism.
Consult the Pubmed abstract

 
Eur J Hum Genet. ; 24(6):830-7 ; June 2016
 
Lethal skeletal dysplasia with evidence of cell cycle and ciliary defects caused by recessive NEK9 mutation in two families
 
The authors reported two Irish Travellers families with a previously undescribed lethal skeletal dysplasia characterised by foetal akinesia, shortening of all long bones, multiple contractures, rib anomalies, thoracic dysplasia, pulmonary hypoplasia and protruding abdomen. Single nucleotide polymorphism homozygosity mapping and whole exome sequencing identified a novel homozygous stop-gain mutation in NEK9 as the cause of this disorder.
Consult the Pubmed abstract

 
Hum Mol Genet. ; 25(9):1824-35 ; May 2016
 
Retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt linked to mutations in EXOSC2
 
Three individuals from two unrelated German families presented with a novel Mendelian disorder encompassing childhood myopia, early onset retinitis pigmentosa, progressive sensorineural hearing loss, hypothyroidism, short stature, brachydactyly, recognisable facial gestalt, premature ageing and mild intellectual disability. Whole exome sequencing revealed homozygous or compound heterozygous missense variants in the EXOSC2 gene in all three patients.
Consult the Pubmed abstract

 
J Med Genet. ; 53(6):419-25 ; June 2016
 
Possible novel childhood leukodystrophy associated with deficiency of ACER3
 
The authors aimed at reaching a molecular diagnosis in Ashkenazi-Jewish patients who suffered from developmental regression at 6-13 months, leukodystrophy and peripheral neuropathy. The patients presented homozygous mutations of the ACER3 gene.
Consult the Pubmed abstract

 
J Med Genet. ; 53(6):389-96 ; June 2016
 


 
New Genes
 



 
West syndrome caused by homozygous variant in GUF1 in three siblings
 
Consult the Pubmed abstract
 
To read more about "West syndrome"

 
Eur J Hum Genet. ; 24(7):1001-8 ; July 2016
 
Fryns syndrome associated with recessive mutations in PIGN in two families
 
Consult the Pubmed abstract
 
To read more about "Fryns syndrome"

 
Hum Mutat. ; 37(7):695-702 ; July 2016
 
Situs inversus totalis due to a homozygous mutation in NME7 in two siblings from a consanguineous family
 
Consult the Pubmed abstract
 
To read more about "Situs inversus totalis"

 
Hum Mutat. ; 37(8):727-31 ; August 2016
 
Acromicric dysplasia and geleophysic dysplasia caused by heterozygous mutations in LTBP3
 
Consult the Pubmed abstract
 
To read more about "Acromicric dysplasia"
To read more about "Geleophysic dysplasia"

 
J Med Genet. ; 53(7):457-64 ; July 2016
 
Syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism due to UNC80 mutation in Bedouin Israeli families
 
Consult the Pubmed abstract
 
To read more about "Hypotonia-speech impairment-severe cognitive delay syndrome"

 
J Med Genet. ; 53(6):397-402 ; June 2016
 
Neonatal primary hyperparathyroidism associated with mutations in SLC12A1 in a family with two affected children
 
Consult the Pubmed abstract
 
To read more about "Neonatal severe primary hyperparathyroidism"

 
J Clin Endocrinol Metab. ; 101(5):2196-200 ; May 2016
 
Hepatoportal sclerosis caused by recurrent recessive mutation in DGUOK in three subjects from two consanguineous families
 
Consult the Pubmed abstract
 
To read more about "Hepatoportal sclerosis"

 
Hepatology ; 63(6):1977-86 ; June 2016
 
Primary congenital glaucoma linked to autosomal dominant TEK mutations
 
Consult the Pubmed abstract
 
To read more about "Congenital glaucoma"

 
J Clin Invest. ; 126(7):2575-87 ; July 2016
 
Hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy associated with novel mutations in GAN, GBA2 and ZFYVE26
 
Consult the Pubmed abstract
 
To read more about "Charcot-Marie-Tooth disease type 1"
To read more about "Autosomal dominant Charcot-Marie-Tooth disease type 2"
To read more about "Hereditary spastic paraplegia"

 
Genet Med. ; 18(6):600-7 ; June 2016
 
Familial medullary thyroid carcinoma associated with germline ESR2 mutation
 
Consult the Pubmed abstract
 
To read more about "Familial medullary thyroid carcinoma"

 
Hum Mol Genet. ; 25(9):1836-45 ; May 2016
 
Papillary thyroid carcinoma: GAS8-AS1 and LPAR4 as novel driver alternations
 
Consult the Pubmed abstract
 
To read more about "Differentiated thyroid carcinoma"

 
Hum Mol Genet. ; 25(9):1875-84 ; May 2016
 
Deletion of CPEB1 gene could be responsible for primary ovarian failure
 
Consult the Pubmed abstract
 
To read more about "Primary ovarian failure"

 
J Clin Endocrinol Metab. ; 101(5):2099-104 ; May 2016
 
Autosomal-recessive juvenile Parkinsonism: PODXL as candidate gene
 
Consult the Pubmed abstract
 
J Clin Endocrinol Metab. ; 101(5):2099-104 ; May 2016
 
Sézary syndrome: identification of candidate genes
 
Consult the Pubmed abstract
 
J Invest Dermatol. ; 136(7):1490-9 ; July 2016
 
Down syndrome: administration of a green tea extract containing epigallocatechin-3-gallate and cognitive training is more effective than training alone
 
Consult the Pubmed abstract
 
To read more about "Down syndrome"

 
Lancet Neurol. ; 15(8):801-10 ; July 2016
 


 
Research in Action
 



 
Clinical Research
 
Huntington disease: deutetrabenazine improves motor signs
 
Consult the Pubmed abstract
 
To read more about "Huntington disease"

 
JAMA ; 316(1):40-50 ; July 2016
 
Children with Silver-Russell syndrome have a similar height gain during growth hormone treatment as non-Silver-Russell syndrome subjects
 
Consult the Pubmed abstract
 
To read more about "Silver-Russell syndrome"

 
J Clin Endocrinol Metab. ; 101(5):2105-12 ; May 2016
 
Hypoparathyroidism: human recombinant parathyroid hormone treatment during six years is efficient and safe
 
Consult the Pubmed abstract
 
J Clin Endocrinol Metab. ; 101(7):2742-50 ; July 2016
 
Immune thrombocytopenic purpura: romiplostim treatment induces a high rate of platelet response in children
 
Consult the Pubmed abstract
 
To read more about "Immune thrombocytopenic purpura"

 
Lancet ; 388(10039):45-54 ; July 2016
 
Systemic sclerosis: macitentan treatment does not reduce new digital ulcers
 
Consult the Pubmed abstract
 
To read more about "Systemic sclerosis"

 
JAMA ; 315(18):1975-88 ; May 2016
 
Systemic sclerosis: mitigated results with tocilizumab treatment
 
Consult the Pubmed abstract
 
To read more about "Systemic sclerosis"

 
Lancet ; 387(10038):2630-40 ; June 2016
 
Giant cell arteritis: efficacy of tocilizumab treatment in the induction and maintenance of remission
 
Consult the Pubmed abstract
 
To read more about "Giant cell arteritis"

 
Lancet ; 387(10031):1921-7 ; May 2016
 
Zygomycosis: isavuconazole treatment is as efficient as amphotericin B treatment
 
Consult the Pubmed abstract
 
To read more about "Zygomycosis"

 
Lancet Infect Dis. ; 16(7):828-37 ; July 2016
 
Malaria: a single dose of primaquine, given alongside dihydroartemisinin-piperaquine, is safe and efficacious for the prevention of the disease
 
Consult the Pubmed abstract
 
To read more about "Malaria"

 
Lancet Infect Dis. ; 16(6):674-84 ; June 2016
 
Urothelial carcinoma: atezolizumab shows durable activity and good tolerability
 
Consult the Pubmed abstract
 
To read more about "Non-papillary transitional cell carcinoma of the bladder"

 
Lancet ; 387(10031):1909-20 ; May 2016
 
Renal cell carcinoma: cabozantinib treatment increases overall survival and delays disease progression compared with everolimus
 
Consult the Pubmed abstract
 
To read more about "Renal cell carcinoma"

 
Lancet Oncol. ; 17(7):917-27 ; July 2016
 
Renal cell carcinoma: treatment with sorafenib or sunitinib shows no survival benefit relative to placebo
 
Consult the Pubmed abstract
 
To read more about "Renal cell carcinoma"

 
Lancet ; 387(10032):2008-16 ; May 2016
 
Renal cell carcinoma: nivolumab treatment is associated with quality of life improvement compared with everolimus
 
Consult the Pubmed abstract
 
To read more about "Renal cell carcinoma"

 
Lancet Oncol. ; 17(7):994-1003 ; July 2016
 
Gastrointestinal stromal tumour: pazopanib plus best supportive care improves progression-free survival compared with best supportive care alone
 
Consult the Pubmed abstract
Consult this study on Orphanet

 
To read more about "Gastrointestinal stromal tumor"

 
Lancet Oncol. ; 17(5):632-41 ; May 2016
 
B-cell chronic lymphocytic leukaemia: venetoclax monotherapy is active and well tolerated
 
Consult the Pubmed abstract
 
To read more about "B-cell chronic lymphocytic leukemia"

 
Lancet Oncol. ; 17(6):768-78 ; June 2016
 
Burkitt lymphoma: addition of rituximab to a short intensive chemotherapy programme improves event-free survival in adults
 
Consult the Pubmed abstract
 
To read more about "Burkitt lymphoma"

 
Lancet ; 387(10036):2402-11 ; June 2016
 
Osteogenesis imperfecta: cesarean delivery is not associated with decreased at-birth fracture rates
 
Consult the Pubmed abstract
 
To read more about "Osteogenesis imperfecta"

 
Genet Med. ; 18(6):570-6 ; June 2016
 
Hepatoportal sclerosis: transjugular intrahepatic portosystemic shunt is a good option to treat severe complications
 
Consult the Pubmed abstract
 
To read more about "Hepatoportal sclerosis"

 
Hepatology ; 64(1):224-31 ; July 2016
 
Symptomatic dengue during pregnancy might be associated with fœtal adverse outcomes
 
Consult the Pubmed abstract
 
To read more about "Dengue fever"

 
Lancet Infect Dis. ; 16(7):857-65 ; July 2016
 
Association between Zika virus and microcephaly in French Polynesia
 
Consult the Pubmed abstract
 
To read more about "Zika virus disease"

 
Lancet ; 387(10033):2125-32 ; May 2016
 
Pregnancy after chemotherapy in male and female survivors of childhood cancer
 
Consult the Pubmed abstract
 
Lancet Oncol. ; 17(5):567-76 ; May 2016
 
Skewed X-inactivation pattern hides intellectual disability causal genes
 
Consult the Pubmed abstract
 
To read more about "X-linked syndromic intellectual disability"
To read more about "X-linked non-syndromic intellectual disability"

 
Hum Mutat. ; 37(8):804-11 ; August 2016
 
Mucopolysaccharidosis type 7: clinical course
 
Consult the Pubmed abstract
 
To read more about "Mucopolysaccharidosis type 7"

 
J Med Genet. ; 53(6):403-18 ; June 2016
 
Therapeutic Approaches
 

 
Huntington disease: mitochondrial targeting of XJB-5-131 attenuates or improves pathophysiology in mice
 
Consult the Pubmed abstract
 
To read more about "Huntington disease"

 
Hum Mol Genet. ; 25(9):1792-802 ; May 2016
 
Wilson disease: liver X receptor agonist, T0901317, ameliorates disease manifestations despite significant copper overload in mice
 
Consult the Pubmed abstract
 
To read more about "Wilson disease"

 
Hepatology ; 63(6):1828-41 ; June 2016
 
Wilson disease: methanobactin reverses acute liver failure in a rat model
 
Consult the Pubmed abstract
 
To read more about "Wilson disease"

 
J Clin Invest. ; 126(7):2721-35 ; July 2016
 
Recessive dystrophic epidermolysis bullosa: gene-corrected fibroblast therapy reverses the disease phenotype in a xenograft model in nude mice
 
Consult the Pubmed abstract
 
J Invest Dermatol. ; 136(7):1346-54 ; July 2016
 
Sandhoff disease: protease-resistant modified human β-hexosaminidase B ameliorates symptoms and prolongs lifespan in mice
 
Consult the Pubmed abstract
 
To read more about "Sandhoff disease"

 
J Clin Invest. ; 126(5):1691-703 ; May 2016
 
Classic homocystinuria: enzyme replacement with PEGylated cystathionine β-synthase ameliorates the disease in a murine model
 
Consult the Pubmed abstract
 
To read more about "Classic homocystinuria"

 
J Clin Invest. ; 126(6):2372-84 ; June 2016
 
Tyrosine kinase inhibitor NVP-BGJ398 functionally improves FGFR3-related dwarfism in mouse model
 
Consult the Pubmed abstract
 
To read more about "Achondroplasia"

 
J Clin Invest. ; 126(5):1871-84 ; May 2016
 
Small cell lung cancer: CD47-blocking immunotherapies inhibit tumour growth in cell and mouse models
 
Consult the Pubmed abstract
 
To read more about "Small cell lung cancer"

 
J Clin Invest. ; 126(7):2610-20 ; July 2016
 
Diagnostic Approaches
 

 
Immunofluorescence antigen mapping allows the diagnosis of the type and subtype of inherited epidermolysis bullosa
 
Consult the Pubmed abstract
 
J Invest Dermatol. ; 136(7):e65-71 ; July 2016
 
Familial hypocalciuric hypercalcemia types 1 and 3 and primary hyperparathyroidism: similarities and differences
 
Consult the Pubmed abstract
 
To read more about "Familial hypocalciuric hypercalcemia type 3"
To read more about "Familial hypocalciuric hypercalcemia type 1"
To read more about "Familial primary hyperparathyroidism"

 
J Clin Endocrinol Metab. ; 101(5):2185-95 ; May 2016
 
Systemic amyloidosis: review on diagnosis of cardiac involvement
 
Consult the abstract
 
Expert Opinion on Orphan Drugs ; 4(6):639-648 ; June 2016
 


 
Patient Management and Therapy
 
Mitochondrial disorders: review on biomarkers an antioxidant therapy
 
Consult the abstract
 
Expert Opinion on Orphan Drugs ; 4(6):591-603 ; June 2016
 
Cystic fibrosis: review on gene therapy
 
Consult the abstract
 
To read more about "Cystic fibrosis"

 
Expert Opinion on Orphan Drugs ; 4(6):649-658 ; June 2016
 
Alpha- and Beta-thalassemia: review on deferasirox for the treatment
 
Consult the abstract
 
To read more about "Alpha-thalassemia"
To read more about "Beta-thalassemia"

 
Expert Opinion on Orphan Drugs ; 4(6):677-686 ; June 2016
 
Wilson disease: review on treatment for neurological manifestations
 
Consult the abstract
 
To read more about "Wilson disease"

 
Expert Opinion on Orphan Drugs ; 4(7):719-728 ; July 2016
 
Homozygous familial hypercholesterolemia: review on evolocumab for the treatment
 
Consult the abstract
 
To read more about "Homozygous familial hypercholesterolemia"

 
Expert Opinion on Orphan Drugs ; 4(7):789-798 ; July 2016
 
Acromegaly: review on pasireotide for the treatment
 
Consult the abstract
 
To read more about "Acromegaly"

 
Expert Opinion on Orphan Drugs ; 4(5):531-540 ; May 2016
 
Frontal fibrosing alopecia: review on therapeutic options
 
Consult the abstract
 
To read more about "Frontal fibrosing alopecia"

 
Expert Opinion on Orphan Drugs ; 4(5):461-468 ; May 2016
 
Acute intermittent porphyria: review on gene therapy
 
Consult the abstract
 
To read more about "Acute intermittent porphyria"

 
Expert Opinion on Orphan Drugs ; 4(7):711-717 ; July 2016
 
Erythropoietic protoporphyria: review on existing therapies
 
Consult the abstract
 
To read more about "Autosomal erythropoietic protoporphyria"
To read more about "X-linked erythropoietic protoporphyria"

 
Expert Opinion on Orphan Drugs ; 4(6):577-589 ; June 2016
 
Systemic-onset juvenile idiopathic arthritis: review on biologic therapies
 
Consult the abstract
 
To read more about "Systemic-onset juvenile idiopathic arthritis"

 
Expert Opinion on Orphan Drugs ; 4(6):621-629 ; June 2016
 
Juvenile idiopathic arthritis: review on uveitis management
 
Consult the abstract
 
To read more about "Juvenile idiopathic arthritis"

 
Expert Opinion on Orphan Drugs ; 4(7):741-745 ; July 2016
 
Acute graft versus host disease: review on emerging treatment
 
Consult the abstract
 
To read more about "Acute graft versus host disease"

 
Expert Opinion on Orphan Drugs ; 4(5):469-484 ; May 2016
 
Von Willebrand disease: review on vonicog alfa for the treatment
 
Consult the abstract
 
To read more about "Von Willebrand disease"

 
Expert Opinion on Orphan Drugs ; 4(5):549-554 ; May 2016
 
Malaria: review on current therapies
 
Consult the Pubmed abstract
 
To read more about "Malaria"

 
J Clin Invest. ; 126(6):2013-20 ; June 2016
 
Myelofibrosis: two reviews on treatment
 
Consult the first abstract
Consult the second abstract

 
Expert Opinion on Orphan Drugs ; 4(5):521-529; 501-509 ; May 2016
 
Ependymoma: review on therapies
 
Consult the abstract
 
To read more about "Ependymoma"

 
Expert Opinion on Orphan Drugs ; 4(7):761-773 ; July 2016
 
Anaplastic thyroid carcinoma: review on fosbretabulin tromethamine for the treatment
 
Consult the abstract
 
To read more about "Anaplastic thyroid carcinoma"

 
Expert Opinion on Orphan Drugs ; 4(5):555-561 ; May 2016
 
Anaplastic thyroid carcinoma: review on fosbretabulin tromethamine for the treatment
 
Consult the abstract
 
To read more about "Anaplastic thyroid carcinoma"

 
Expert Opinion on Orphan Drugs ; 4(5):555-561 ; May 2016
 
Acute lymphoblastic leukaemia: review on bortezomib for the treatment
 
Consult the abstract
 
To read more about "Acute lymphoblastic leukemia"

 
Expert Opinion on Orphan Drugs ; 4(7):775-780 ; July 2016
 
Phenylketonuria: review on genetics
 
Consult the Pubmed abstract
 
To read more about "Phenylketonuria"

 
Hum Mutat. ; 37(6):508-15 ; June 2016
 
VACTERL/VATER association: review on genetic landscape and clinical implications
 
Consult the Pubmed abstract
 
To read more about "VACTERL/VATER association"

 
J Med Genet. ; 53(7):431-7 ; July 2016
 
Marfan syndrome and related disorders: review on gene discovery
 
Consult the Pubmed abstract
 
To read more about "Marfan syndrome"

 
Hum Mutat. ; 37(6):524-31 ; June 2016
 
Marfan syndrome: review on pathophysiology, treatment and genetics
 
Consult the abstract
 
To read more about "Marfan syndrome"

 
Expert Opinion on Orphan Drugs ; 4(6):605-612 ; June 2016
 
Sickle cell anaemia: three reviews on therapeutic strategies
 
Consult the Pubmed abstracts
 
To read more about "Sickle cell anemia"

 
Lancet ; 387(10037):2545-53; 2554-64; 2565-74 ; June 2016
 
Alström syndrome: review on management and recent advances in treatment
 
Consult the abstract
 
To read more about "Alström syndrome"

 
Expert Opinion on Orphan Drugs ; 4(7):747-759 ; July 2016
 
Movement disorders in children: review on advances in management
 
Consult the Pubmed abstract
 
Lancet Neurol. ; 15(7):719-35 ; June 2016
 
Primary glomerulonephritides: a review
 
Consult the Pubmed abstract
 
Lancet ; 387(10032):2036-48 ; May 2016
 
Haemophilia: review on diagnosis and treatments
 
Consult the Pubmed abstract
 
To read more about "Hemophilia"

 
Lancet ; 388(10040):187-97 ; July 2016
 
Systemic amyloidosis: a review
 
Consult the Pubmed abstract
 
Lancet ; 387(10038):2641-54 ; June 2016
 
Polymyalgia rheumatica and giant cell arteritis: a review
 
Consult the Pubmed abstract
 
To read more about "Polymyalgia rheumatica"
To read more about "Giant cell arteritis"

 
JAMA ; 315(22):2442-58 ; June 2016
 
Laminopathy with striated muscle involvement: review on clinical features and therapeutic strategies
 
Consult the abstract
 
To read more about "Laminopathy with striated muscle involvement"

 
Expert Opinion on Orphan Drugs ; 4(6):631-638 ; June 2016
 
Lyme disease and babesiosis: review on diagnosis, treatment and prevention
 
Consult the Pubmed abstract
 
To read more about "Lyme disease"
To read more about "Babesiosis"

 
JAMA ; 315(16):1767-77 ; April 2016
 
Ebola haemorrhagic fever: a review
 
Consult the Pubmed abstract
 
To read more about "Ebola hemorrhagic fever"

 
Lancet Infect Dis. ; 16(6):e82-91 ; June 2016
 
Zika virus disease: a review
 
Consult the Pubmed abstract
 
To read more about "Zika virus disease"

 
Lancet Infect Dis. ; 16(7):e119-26 ; July 2016
 
Pancreatic cancer: a review
 
Consult the Pubmed abstract
 
Lancet ; 388(10039):73-85 ; July 2016
 
Six 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. Six updated GeneReviews have been published for:
COL4A1-related disorders
LMNA-related dilated cardiomyopathy
Autosomal dominant tubulointerstitial kidney disease, MUC1-related
Autosomal dominant tubulointerstitial kidney disease, UMOD-related
Lymphoproliferative disease, X-linked
SUCLA2-related mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

 


 
Grants
 

 
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

 
Science & SciLifeLab Prize for Young Scientists
 
The Prize is awarded annually to one young scientist for outstanding life science research for which he/she was awarded a doctoral degree in the previous two years. The topic of the entrant's thesis research must be in one of the following categories: Cell and Molecular Biology, Genomics and Proteomics, Ecology and Environment, Translational Medicine. Eligible entrants must have been awarded their doctoral degree in 2014 or 2015, and the subject of their thesis should match one of the Subject Tracks below. The winners from each category will compete for the grand prize.

Prize money: US$30,000 for the grand prize winner, US$10,000 for each of the category winners.
Publication: The grand prize winning essay will be published in Science and essays from the each of the category winners will be published online.
Application deadline: August 1, 2016

 
Call for Proposals (2016) for OI research (Osteogenesis Imperfecta)
 
The aim of this call is to (co-) fund projects that will generate better treatment of Osteogenesis Imperfecta (OI). Researchers responding to this call can come from any country. A wide range of treatment or research strategies will be considered. No area will be excluded as long as the quality of life of people with OI can be improved in a tangible and sustainable manner. All disciplines that contribute to the well-being of people with OI are invited to join. Creation of alliances and partnerships across national boundaries and medical institutions are explicitly welcomed. Submission deadline: 19th August 2016
For further information

 
Jerome Lejeune Foundation
 
If you are a researcher investigating on Down syndrome and other 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 (up to 50% of the total amount of the global grant) with trisomy 21 (Down syndrome) and linked pathologies as well as knowledge of the chromosome 21.
For more information . The deadline for receipt of applications is the 14 August 2016.

 
Fondation René Touraine Fellowships
 
Since 1993, the Foundation’s Scientific Board reviews each year the candidate’ applications and allocates the following fellowships:
• One fellowship of 18000€ for a long exchange
• Four Fellowships of 4500€ for a short exchange
These grants are awarded to encourage exchanges and international collaborations between research laboratories or clinical departments. Pre or post doctoral research fellows and dermatologists may apply for these grants. Eligibility criteria and details on the fellowships are available here . The deadline for receipt of applications is the 1st October 2016.

 
FDA providing USD 2 million in new grants for natural history studies in rare diseases
 
The aim is to collect data on how specific rare diseases progress in individuals over time so that knowledge can inform and support product development and approval. This will be the first time the FDA will provide funding through its Orphan Products Grants to conduct these types of studies for rare diseases. Deadline: 14 October, 2016
For further information

 


 
Courses & Educational Initiatives
 
MSc Programme (Blended) in Inherited Haemoglobin Disorders
 
This educational Programme is being launched in September 2016. It is a unique Programme, with its faculty including world‐renowned international experts. It is recognized globally and is supported by the European Haematology Association and the International Society of Haematology. You can find more information on the MSc Programme in the following link
 
The First Summer School 2016 in Metagenomics
 
Date: 12-16 September, 2016
Venue: Paris, France The French Institute of Bioinformatics, France Génomique and Institut Pasteur are organizing this summer school. The aim of these 4 days workshop will be to give researchers and students an overview of the tools and bioinformatics techniques available for the analysis of next generation sequence data from microbial communities. Its content will focus on the taxonomic assignment and the functional analysis of metatranscriptomic and metagenomic data. The format will comprise a mixture of lectures and hands-on practical tutorials where students will process example data sets in real-time.
For more information

 
Metabolic Myopathies Course
 
Date: 3-5 November, 2016
Venue: Paris, France

Target audience and participant profile: Neurologists, neuromuscular specialists, internists, cardiologists, geneticists, pediatricians, biochemists, willing to improve their knowledge in the diagnosis and treatment of metabolic myopathies + differential diagnosis with other inherited or genetic myopathies. For further information, please contact Cecilia Kellquist, Coordinator and member of the board, ckellquist@rrd-foundation.org or visit www.rrd-foundation.org.

 
Courses offered by Centro Nazionale Malattie Rare
 
A. 4th International Summer School on Rare Disease and Orphan Drug Registries
Date: 26-28 September, 2016
Venue: Rome, Italy

This Summer School, endorsed by ICORD, will consist of plenary presentations and interactive small-group exercises, according to the Problem-Based Learning methodology.
The course will provide participants with useful tools and methodologies to establish, manage and plan the activities of a registry with an overview of new approaches.

B) RD-Connect BYOD Workshop to Link RD Registries
Date: 29-30 September, 2016
Venue: Rome, Italy

The Workshop will be a hands-on experience, where the attendees work with experts to make their data Findable, Accessible, Interoperable, Re-usable (FAIR). The event will consist of preparatory webinars, brief plenary introductions and practical working groups.
For further information
Both events are open to health professionals, researchers, medical specialists, medical students, registries curators, database managers and representatives of patient associations, who are involved in or intend to establish a rare disease patient registry.
A selection process will be applied based on the participant's background and role with reference to registry activities.
For both initiatives the application deadline is: July 10, 2016.

 
European Advanced Postgraduate Course in Classical and Molecular Cytogenetics
 
Date: March, 2017

Venue: Nimes, France


For further information

 
An Online Educational Resource for Limb Girdle Muscle Weakness
 
Limb girdle muscle weakness (LGMW) can result from multiple causes. Early and accurate diagnosis is critical to optimal disease management. The diagnosis can involve clinical, electromyogram, and genetic findings. Patient specific multidisciplinary management plans, including genetic counseling, should be developed. Currently, there are drugs available for some conditions. Many providers lack the skills to provide optimal care due to the heterogeneous presentation, complex diagnosis, and rarity of LGMW disorders.
For further information

 


 
What's on Where?
 
3rd European Aniridia Conference
 
Date: 27-28 August, 2016
Venue: Duisurg, Germany

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

 
13th International conference on Osteogenesis Imperfecta
 
Date: 27-28 August, 2016
Venue: Duisurg, Germany

The conference provides an international forum for the presentation and discussion of current basic and clinical science in the field of osteogenesis imperfecta in children, adolescents and adults.
For further information

 
United Leukodystrophy Annual Conference
 
Date: 27-28 August, 2016
Venue: Duisurg, Germany

This conference will bring together families and medical professionals across all of the leukodystrophies.
For further information

 
ERS International Congress 2016
 
Date: 3-7 September, 2016
Venue: London, United Kingdom

Covering key topics in respiratory medicine from across the spectrum of disease areas including TB, lung cancer, pneumonia, cystic fibrosis, COPD, and asthma amongst others, the Congress is the best place to build skills and knowledge through hearing the latest topics in the field.
For further information

 


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

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

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Orphanet Partner Country Representatives: Romi Armando (Argentina), Kristine Hovhannesyan (Armenia), Hugh Dawkins (Australia), Till Voigtlander (Austria), Rumen Stefanov (Bulgaria), Micheil Innes (Canada), Ingeborg Barisic (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek (Czech Republic), John Rosendahl Ostergaard (Denmark), Vallo Tillmann (Estonia), Sirpa Ala-Mello (Finland), Joerg Schmidtke (Germany), Eileen Treacy (Ireland), Annick Raas-Rothschild (Israel), Bruno Dallapiccola (Italy), Tomoko Kodama (Japan), Jana Lepiksone (Latvia), André Mégarbané (Lebanon), Vaidutis Kucinskas (Lithuania), Yolande Wagener (Luxembourg), Abdelaziz Sefiani (Morocco), Gert-Jan van Ommen (Netherlands), Stein Are Aksnes (Norway), Malgorzata Krajewska-Walasek (Poland), Paul Nogueira (Portugal), Cristina Rusu (Romania), Dragica Radojkovic (Serbia), Laszlo Kovacs (Slovakia), Luca Lovrecic (Slovenia), Francesc Palau (Spain), Désirée Gavhed (Sweden), Loredana D'Amato Sizonenko (Switzerland), Dorra H'mida (Tunisia), Ugur Ozbek (Turkey), Sarah Stevens (UK)
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