20 December 2016 print
Editorial
EC Expert Group
Spotlight on...
Irdirc
Nat Pol News
ELS News
Orphanet News
New Syndromes
New Genes
Research in Action
Patient Man & Therapy
Orphan Drugs
Grants
Courses & Education
What's on?
Subscribe / Unsubscribe
Search the Orphanews archives :
Loading

Archives


 
Editorial
 


We wish all our readers happy holidays and will be back in the new year with more news and updates on rare diseases!
 
The Challenges of Rare Diseases in the United Nations Program
 


The United Nations Conference on Non-Governmental Organizations (CoNGO), a United Nations (UN) advisory body representing civil society, welcomed the issue of rare diseases into its community. On 11 November, 2016, the UN inaugurated its Committee of rare diseases (NGO Committee for Rare Diseases). This is a major step that addresses the challenges posed by rare diseases on a global scale.

This accomplishment is the fruit of the persistent action of the patient associations EURORDIS and Ågrenska. They have shown the convergence of objectives specific to rare diseases with those set by the United Nations for 2030, namely the 17 Sustainable Development Goals (SDGs). They can be summed up as follows: no one should be left by the wayside, which includes the vulnerable population of patients suffering from a rare disease. In particular, the health, education, employment, gender equality, discrimination, as well as the economic and financial consequences of rare diseases correspond to concerns expressed in the objectives for the sustainable development of The United Nations.

The inaugural day brought together in New York, United Nations neighbourhoods, representatives of patient organizations from each continent, representatives of the United Nations, including the President of CoNGO, Mr. Cyril Ritchie, the Director of the Economic and Social Council Of the United Nations (ECOSOC) Dr. Navid Hanif, World Health Organization (WHO) representative Dr. Nata Menabde, and representatives of international initiatives for rare diseases, such as International Rare Diseases Research Consortium (IRDiRC), International Conference on Rare Diseases & Orphan Drugs (ICORD), International Federation of Pharmaceutical Manufacturers & Associations (IFPMA) and Orphanet, whose complementarity shows the maturity of an internationally functioning ecosystem.

This founding act was supported by the Swedish Ministry of Health and Social Affairs, the Permanent Mission of Estonia to the United Nations and the Government of the Republic of Malta, and took place under the patronage of the Queen Silvia of Sweden.

This historic event marks the first step towards explicit consideration of rare diseases in social and public health policies at global level. The UN Committee of Non-Governmental Organizations for Rare Diseases will be the catalyst for efforts to achieve the objectives of the United Nations in the specific case of the population of patients with rare diseases by recognizing and integrating their Initiatives of the United Nations.
For further information
Read the EURORDIS press release
 


 
EC Expert Group
 
Commission Expert Group on Rare Diseases FLASH REPORT
 
The Commission Expert Group on Rare Diseases met on 28-29 November, 2016 in Luxembourg for the 8th time.
Click here to view the Flash Report.

 


 
Spotlight on...
 
Launch of Joint Action on Rare Cancers
 
On 7 November, the Joint Action of the Member States of the European Union for Rare Cancers (JARC) was launched. Coordinated by the Italian Institute of Tumors in Milan (Istituto Nazionale dei Tumori) in the person of Dr. Paolo Casali, this action brings together 35 partners from 18 countries. Its aim is to prioritise rare cancers on the agenda of Member States through national cancer plans, to harmonize practices in Europe and to foster research, by integrating patient associations into the work program and by exploiting the synergies of actions on rare diseases and frequent cancers. The work program gives the European Reference Networks a central position. In particular, the articulation with the RD-Action joint action rare is an essential element to pool approaches while keeping the specificities of each of these actions. EURORDIS and Orphanet, partners in RD-Action, also participate in JARC, and are a vehicle for dialogue between the two joint actions.

The inaugural meeting was held in Luxembourg in the presence of Commissioner Vytenis Andriukaitis of the European Commission's Directorate General for Health and Food Safety and Lydia Mutsch, Minister of Health of Luxembourg.
For further information

 


 
Irdirc
 
IRDiRC Recognized Resources: quality indicator of the International Rare Diseases Research Consortium
 
An article published in European Journal of Human Genetics describes the peer-reviewed quality label of the International Rare Diseases Research Consortium (IRDiRC) named ‘IRDiRC Recognized Resources’, which was initially called ‘IRDiRC Recommended’. The article describes 13 resources that have been beneficiaries of this quality standard. These resources were chosen for the role in advancing the goals of IRDiRC. They resources chosen contribute towards specific features such as data sharing for discovery, knowledge organisation and ontologies, networking patient registries, and therapeutic development. According to the authors “widespread adoption by the community of such recognised resources is expected to facilitate the IRDiRC goal to enable the development of 200 new therapies by 2020.”
Read the PubMed abstract

 
Save the date for the third IRDiRC conference in Paris, France
 
The third conference of the International Rare Diseases Research Consortium (IRDiRC) will take place February 8-9, 2017 in Paris, France at the conference center of Université Pierre et Marie Curie (UPMC) Jussieu.

Five years have passed since the initial launch of IRDiRC in 2011 and considerable advances have been made in rare diseases research. This conference presents a unique opportunity to reflect upon this progress, confront barriers, and together, form new collaborations to take on challenges posed by rare diseases. Past conferences were held in Dublin, Ireland and Shenzhen, China.

All stakeholders – investigators, policy makers, opinion leaders, critical thinkers, young researchers, patient advocates and industry alike – active in the area of rare diseases from across the globe are invited to join us to celebrate achievements in the field, identify future milestones and goals, and work toward bringing diagnoses and therapies to all rare disease patients.

Registration for this conference will open shortly. Visit the IRDiRC conference website for more details

 


 
National & International Policy Developments
 
Development of a registration system for genetic counsellors and nurses in health-care services in Europe
 
An article published European Journal of Human Genetics describes the work of European Board of Medical Genetics (EBMG) which helps “establish professional standards of education, training, and practice in human, and medical genetics and genetic counselling.”. They are also involved in building a system for professional registration, which was launched in 2013. The authors provide an overview of the progress since its launch and the challenges along with future directions.
Read the Open Access article

 
Other International News
 
Government funded programmes fueling rare disease research in Japan
 
A review published in Expert Opinion in Orphan Drugs presents the efforts of the Japanese government into rare disease research which they also call rare and intractable disease. eflects the current status of systems to research rare diseases in Japan. According to the authors the government is spending money on different facets of research to improve the understanding of rare disease through epidemiological studies, basic research, clinical research, and applied research. The article presents data on the epidemiological research, guidance documents, certification of hospitals and efforts to produce novel drugs for rare diseases.
Access the article

 
International Recommendations for Undiagnosed patients EURORDIS
 
(Rare Diseases Europe), together with SWAN UK (the support group run by Genetic Alliance UK), the Wilhelm Foundation, Rare Voices Australia (RVA), the Canadian Organization for Rare Disorders (CORD), the Advocacy Service for Rare and Intractable Diseases' stakeholders in Japan (ASrid) and the National Organization for Rare Disorders (NORD) jointly submit a list of recommendations to address the specific needs of patients without a diagnosis urging all stakeholders to recognise undiagnosed patients as a specific population within the rare disease community.

Undiagnosed rare disease patients require the availability of a complete health and social care pathway in advance of receiving a diagnosis. Such care should promote their chances of receiving an accurate diagnosis in as efficient and timely way as possible, while ensuring that, until a diagnosis is made, they nevertheless receive the best possible health and social care. These recommendations also highlight the importance of promoting ethical and responsible international data sharing to help inform a clinical diagnosis, accelerate research into novel conditions and provide insights into disease mechanisms. Furthermore, knowledge and information sharing among all stakeholders should be optimally coordinated and fostered so that patients can access appropriate resources in a timely and efficient manner.
For further information

 
Guidance Documents and Recommendations
 
Silver-Russell and Beckwith-Wiedemann syndrome: guidelines for the molecular genetic testing
 
Consult the Pubmed abstract
 
To read more about "Silver-Russell syndrome"
To read more about "Beckwith-Wiedemann syndrome"

 
Eur J Hum Genet. ; 24(10):1377-87 ; October 2016
 
Classic homocystinuria: guidelines for the diagnosis and management
 
Consult the Pubmed abstract
 
To read more about "Classic homocystinuria"

 
J Inherit Metab Dis. ; October 2016
 
Special issue of ‘Neurology’ on recommendations for neurofibromatosis
 
Consult the special issue
 
Neurology ; 87(Suppl 1):S1-S48 ; August 2016
 
Meningioma: guidelines for the diagnosis and treatment
 
Consult the Pubmed abstract
 
To read more about "Meningioma"

 
Lancet Oncol. ; 17(9):e383-91 ; September 2016
 
Bioinformatics, Registries and Data Management
 
Characteristics of Taiwanese patients of Paroxysmal nocturnal hemoglobinuria
 
A disease registry for Paroxysmal nocturnal hemoglobinuria (PNH), a rare and acquired hematopoietic stem cell disease, in Taiwan is published in Thrombosis Journal. According to the data from the patients registered between 2009- 2015 the patients are diagnosed at the age of around 46, have a high level of “lactate dehydrogenase, lower haemoglobin, and higher frequencies of symptom including shortness of breath and erectile dysfunction at the time of diagnosis.”
Read the Open Access article

 
Collaborating with Telethon Network of Genetic Biobanks
 
An article published in Orphanet Journal of Rare Diseases describe the formalisation of the process wherein rare disease patient organisations request the services of biobanks belonging to the Telethon Network of Genetic Biobanks (TNGB). They are composed of 11 Italian non-profit repositories with more than 90,000 biological samples representing approximately 850 distinct rare genetic diseases. They have generated 13 written agreements, which according to the authors, organisations “enabled the centralisation of rare genetic disease biospecimens and their related data, thus making them available to the scientific community.” The article describes the tasks of TNGB and the patient organisations that will help with enhanced collaboration, increasing awareness of rare diseases and satisfy the current and future demands of the researchers engaged in studies of rare diseases.
Read the Open Access article

 
Screening and Testing
 
Review on prenatal and pre-implantation genetic testing
 
A review published in Nature Reviews Genetics traces the history of prenatal and preimplantation genetic testing and its developments. It also provides an overview of progress in utilisation of genome-wide single-cell and cell-free foetal DNA. The review describes the key milestones from the period when the first prenatal genetic test was performed in 1966 and building of mouse models for pre-implantation genetic testing to the cutting edge technology that is available today. The article also describes the challenges associated with the technology, especially single-cell genome analysis as well as the helpfulness of these tests for identifying causes of developmental disorders.
Access the article

 


 
Ethical, Legal & Social Issues
 
Economic evaluation in Duchenne muscular dystrophy
 
A study published in Pharmacoeconomics describes first version of a cost-effectiveness model utilising Duchenne muscular dystrophy Functional Ability Self-Assessment Tool (DMDSAT). According to the authors, this patient-reported outcome scale “disease progression in clinical practice and trials and model DMD in economic evaluations, and compare it with two alternative model structures.”

The authors tested three models, based on DMDSAT, stages of diseases and patients’ ventilation status and found that they were all valid models. They found that “lifetime direct medical costs with standard of care ranged between £217,510 and £284,640, total costs between £624,240 and £713,840, and total number of quality-adjusted life-years between 5.96 and 7.17.” The authors believe this model could help health technology assessment bodies for decisions regarding pricing and reimbursement of future treatments for DMD.
Read the PubMed abstract

 
Challenges faced while diagnosing primary ciliary dyskinesia
 
An article published in European Respiratory Journal describes the challenges faced by patients suffering from primary ciliary dyskinesia (PCD) when referred for diagnostic testing. The study highlights the “lack of PCD awareness among medical practitioners and failure to take past history into account, leading to delayed diagnosis”, as well as the need for improved reporting of results.
Read the Open Access article

 
Ethics Committees from France, United Kingdom and Germany meet to discuss gene editing
 
  The seventh meeting of the ethics committee met on 21 October in Berlin, Germany, which focused on the issue of genome editing, designating new genetic modification techniques such as CRISPR -Cas9.

During this meeting, Peter Mills presented the report titled "Genome editing: an ethical review", published in September 2016 by the Nuffield Council on Bioethics. This report discusses genome modification and the resulting moral outlook, as well as health applications. The authors believe that an ethical review is necessary for applications in human medicine. Recommendations will be published by the Nuffield Council on Bioethics in 2017.

The rest of the meeting was devoted to the applications of genetic engineering, in particular for the genetic modification of human cells. In general, the speakers stressed the need to reconcile science and ethics. The next meeting of these committees will take place in France in June 2017.
For further information (in French)

 


 
Orphanet News
 
OrphaNews International changes its look for 2017!
 
OrphaNews will change its look in 2017! A more modern visual identity, adapted to reading on any medium, will appear in the next issue of the newsletter. In addition, a thesaurus will be available to allow searching by keywords in all the newsletters that have been already published.
These changes were made thanks to the support of AFM-Telethon.

 


 
New Syndromes
 



 
Syndrome of abnormal striatum, congenital cataract and intellectual disability due to KCNA4 deficiency in four patients from a consanguineous family
 
The authors identified a missense variant in KCNA4 in four patients from a consanguineous family. Patients presented a novel syndrome of congenital cataract, abnormal striatum, intellectual disability and attention deficit hyperactivity disorder.
Consult the Pubmed abstract

 
J Med Genet. ; [Epub ahead of print] ; August 2016
 
Spastic paraplegia, intellectual disability, nystagmus, and obesity caused by heterozygous KIDINS220 nonsense variants in three unrelated patients
 
The authors identified de novo nonsense variants in KIDINS220 in three unrelated patients with spastic paraplegia, intellectual disability, nystagmus, and obesity. They named that syndrome ‘SINO’.
Consult the Pubmed abstract

 
Hum Mol Genet. ; 25(11):2158-2167 ; June 2016
 
Developmental delay, intellectual disability, obesity, and dysmorphic features associated with de novo PHIP deleterious variants
 
Using whole exome sequencing, the authors identified de novo heterozygous PHIP variants, including a frameshift deletion, in two unrelated patients with common clinical features of developmental delay, intellectual disability, anxiety, hypotonia, poor balance, obesity, and dysmorphic features. A nonsense mutation in PHIP has previously been associated with similar clinical features.
Consult the abstract

 
Cold Spring Harbor Molecular Case Studies ; [Epub ahead of print] ; November 2016
 
Developmental delay, short stature, and microcephaly potentially linked to ACTB haploinsufficiency
 
In this study, the authors reported five patients with overlapping deletions of the 7p22.1 region. The patients exhibited clinical similarities including non-specific developmental delay, short stature, microcephaly, and other distinctive features. Haploinsufficiency of ACTB may be responsible for the clinical features of patients with 7p22.1 microdeletions.
Consult the Pubmed abstract

 
Eur J Med Genet. ; 59(10):502-6 ; October 2016
 
Novel syndrome of developmental delay and distinctive facial features caused by de novo variants in KDM1A discovered via social networking
 
Social networking among families, clinicians, and researchers was used to identify three children with variants of unknown significance in KDM1A and similar phenotypes. De novo variants in KDM1A underlied a new syndrome characterised by developmental delay and distinctive facial features. All three individuals shared a prominent forehead, slightly arched eyebrows, elongated palpebral fissures, a wide nasal bridge, thin lips, and wide-spaced teeth.
Consult the Pubmed abstract

 
Genet Med. ; 18(8):788-95 ; August 2016
 
Prominent scapulae, mild shoulder girdle weakness and dysmorphic features associated with a de novo CHD7 missense variant
 
The authors identified a de novo missense variant in CHD7 in a family presenting with musculoskeletal abnormalities. They presented with prominent scapulae, mild shoulder girdle weakness and subtle dysmorphic features.
Consult the Pubmed abstract

 
Eur J Hum Genet. ; 24(8):1216-9 ; August 2016
 
Ectodermal dysplasia including oligodontia due to mutation of KREMEN1 in Palestinian families
 

Four consanguineous Palestinian families presented with oligodontia and hair and skin features of ectodermal dysplasia. Appearance of ectodermal dysplasia was consistent with autosomal recessive inheritance. Exome sequencing suggested that the phenotype was due to homozygosity for KREMEN1.
Consult the Pubmed abstract
 
European Journal of Human Genetics ; 24(10):1430-5 ; October 2016
 


 
New Genes
 



 
Alopecia-intellectual disability syndrome caused by a deleterious variant in ITGB6 in a consanguineous Pakistani family
 
Consult the Pubmed abstract
 
To read more about "Alopecia-intellectual disability syndrome"

 
Eur J Hum Genet. ; 24(8):1223-7 ; August 2016
 
Early onset refractory seizures and progressive neurological decline associated with loss of SYNJ1 in three families
 
Consult the Pubmed abstract
 
To read more about "Undetermined early-onset epileptic encephalopathy"

 
Am J Hum Genet. ; 99(2):501-10 ; August 2016
 
Fanconi anaemia associated with biallelic inactivation of REV7 in one patient
 
Consult the Pubmed abstract
 
To read more about "Fanconi anemia"

 
J Clin Invest. ; 126(9):3580-4 ; September 2016
 
Bardet-Biedl syndrome caused by loss-of-function mutation in C80RF37 in a 17-year-old female
 
Consult the Pubmed abstract
 
To read more about "Bardet-Biedl syndrome"

 
Hum Mol Genet. ; 25(11):2283-2294 ; June 2016
 
Ectodermal dysplasia-absent dermatoglyphs syndrome due to a recurrent SMARCAD1 variant in a Chinese family
 
Consult the Pubmed abstract
 
To read more about "Ectodermal dysplasia-absent dermatoglyphs syndrome"

 
Eur J Hum Genet. ; 24(9):1367-70 ; August 2016
 
Joubert syndrome and complex ciliopathy phenotypes caused by mutations in CEP120
 
Consult the Pubmed abstract
 
To read more about "Joubert syndrome"
To read more about "Joubert syndrome with orofaciodigital defect"
To read more about "Meckel syndrome"

 
J Med Genet. ; 53(9):608-15 ; September 2016
 
Sclerosing cholangitis due to DCDC2 biallelic missense mutations in four children
 
Consult the Pubmed abstract
 
To read more about "Sclerosing cholangitis"

 
Hum Mutat. ; 37(10):1025-9 ; October 2016
 
Lethal congenital pontocerebellar hypoplasia caused by loss of function of SLC25A46 in siblings from two unrelated families
 
Consult the Pubmed abstract
 
Brain ; [Epub ahead of print] ; August 2016
 
Periventricular nodular heterotopia due to missense mutations in NEDD4L
 
Consult the Pubmed abstract
 
To read more about "Periventricular nodular heterotopia"

 
Nat Genet. ; 48(11):1349-1358 ; November 2016
 
Infantile neurodegeneration and 3-methylglutaconic aciduria linked to deficiency of HTRA2
 
Consult the Pubmed abstract
 
To read more about "3-methylglutaconic aciduria"

 
J Med Genet. ; 53(10):690-6 ; October 2016
 
Dentin dysplasia type I caused by a splicing mutation in VPS4B
 
Consult the Pubmed abstract
 
To read more about "Dentin dysplasia type I"

 
J Med Genet. ; 53(9):624-33 ; September 2016
 
Osteosclerotic metaphyseal dysplasia linked to biallelic LRRK1 mutations
 
Consult the Pubmed abstract
 
J Med Genet. ; 53(8):568-74 ; August 2016
 
Osteonecrosis of the femoral head associated with gain-of-function mutation in TRPV4
 
Consult the Pubmed abstract
 
To read more about "Familial avascular necrosis of femoral head"

 
J Med Genet. ; 53(10):705-9 ; October 2016
 
Oculo-auriculo-vertebral spectrum due to mutations in MYT1
 
Consult the Pubmed abstract
 
To read more about "Oculo-auriculo-vertebral spectrum"

 
J Med Genet. ; [Epub ahead of print] ; June 2016
 
Hydrops fetalis caused by EPHB4 heterozygous missense mutations in two families
 
Consult the Pubmed abstract
 
To read more about "Hydrops fetalis"

 
J Clin Invest. ; 126(8):3080-8 ; August 2016
 
Autosomal recessive cerebellar ataxia-blindness-deafness syndrome linked to SLC52A2 and PEX6 mutations
 
Consult the Pubmed abstract
 
To read more about "Autosomal recessive cerebellar ataxia-blindness-deafness syndrome"

 
Eur J Hum Genet. ; 24(8):1154-9 ; August 2016
 
Presynaptic congenital myasthenic syndromes due to missense biallelic mutations in MYO9A in two unrelated families
 
Consult the Pubmed abstract
 
To read more about "Presynaptic congenital myasthenic syndromes"

 
Brain ; 139(Pt 8):2143-53 ; August 2016
 
Presynaptic congenital myasthenic syndromes caused by biallelic variants in SLC18A3 in two families
 
Consult the Pubmed abstract
 
To read more about "Presynaptic congenital myasthenic syndromes"

 
Neurology ; 87(14):1442-1448 ; October 2016
 
Spondyloepimetaphyseal dysplasia with multiple dislocations associated with a homozygous nonsense variant in EXOC6B
 
Consult the Pubmed abstract
 
To read more about "Spondyloepimetaphyseal dysplasia with multiple dislocations"

 
Eur J Hum Genet. ; 24(8):1206-10 ; August 2016
 
Steinert myotonic dystrophy linked to MBNL1 variants in three unrelated patients
 
Consult the Pubmed abstract
 
To read more about "Steinert myotonic dystrophy"

 
Eur J Hum Genet. ; 24(10):1467-72 ; October 2016
 
Cerebral microangiopathy leukoencephalopathy with calcifications and cysts caused by biallelic mutations in SNORD118
 
Consult the Pubmed abstract
 
Nat Genet. ; 48(10):1185-92 ; October 2016
 
Schwannoma: identification of recurrent mutations in ARID1A, ARID1B and DDR1, and of recurrent in-frame SH3PXD2A-HTRA1 fusion
 
Consult the Pubmed abstract
 
Nat Genet. ; 48(11):1339-1348 ; November 2016
 
Meningioma due to recurrent somatic mutations in POLR2A
 
Consult the Pubmed abstract
 
To read more about "Meningioma"

 
Nat Genet. ; 48(10):1253-9 ; October 2016
 
Intellectual disability and epilepsy: HECW2 as a novel candidate gene
 
Consult the Pubmed abstract
 
To read more about "Rare non-syndromic intellectual disability"

 
J Med Genet. ; 53(10):697-704 ; October 2016
 
Cerebellar ataxia and spastic paraplegia: TH as a candidate gene
 
Consult the Pubmed abstract
 
Eur J Hum Genet. ; 24(10):1460-6 ; October 2016
 
Oesophageal malformation: SHH as a candidate gene
 
Consult the Pubmed abstract
 
To read more about "Esophageal malformation"

 
Eur J Med Genet. ; 59(10):546-8 ; October 2016
 
Familial atrial fibrillation: LMNA as a candidate gene
 
Consult the Pubmed abstract
 
To read more about "Familial atrial fibrillation"

 
Eur J Med Genet. ; 59(8):396-400 ; August 2016
 
Amyotrophic lateral sclerosis: C21ORF2, MOBP and SCFD1 as new risk variants
 
Consult the Pubmed abstract
 
To read more about "Amyotrophic lateral sclerosis"

 
Nat Genet. ; 48(9):1043-8 ; September 2016
 


 
Research in Action
 



 
Clinical Research
 
Hutchinson-Gilford progeria syndrome: addition of pravastatin and zoledronic acid to lonafarnib treatment improves bone mineral density but does not show cardiovascular benefit
 
Consult the Pubmed abstract
 
To read more about "Hutchinson-Gilford progeria syndrome"

 
Circulation ; 134(2):114-25 ; July 2016
 
POEMS syndrome: thalidomide represents a new treatment for patients who are not eligible for stem-cell transplantation, despite a risk of bradycardia
 
Consult the Pubmed abstract
 
To read more about "POEMS syndrome"

 
Lancet Neurol. ; 15(11):1129-37 ; October 2016
 
Lipodystrophy: metreleptin therapy regulates hunger and satiety
 
Consult the Pubmed abstract
 
Diabetes ; 65(8):2179-86 ; August 2016
 
Hereditary haemorrhagic telangiectasia: topical intranasal therapy does not reduce monthly epistaxis duration and frequency
 
Consult the Pubmed abstracts
 
To read more about "Hereditary hemorrhagic telangiectasia"

 
JAMA ; 316(9):934-42, 943-51 ; September 2016
 
Tuberous sclerosis complex: everolimus therapy is safe and efficient for renal angiomyolipomas and seizures
 
Consult the Pubmed abstracts
Consult this Swiss study on Orphanet
Consult this Spanish study on Orphanet
Consult this French study on Orphanet

 
To read more about "Tuberous sclerosis complex"

 
Orphanet J Rare Dis. ; 11(1):128 ; September 2016
Lancet ; [Epub ahead of print] ; September 2016
 
Tuberous sclerosis complex: sirolimus does not reduce seizure frequency in children
 
Consult the Pubmed abstract
 
To read more about "Tuberous sclerosis complex"

 
Neurology ; 87(10):1011-8 ; September 2016
 
Polycythemia vera: ruxolitinib improves quality of life in patients who are hydroxyurea resistant/intolerant
 
Consult the Pubmed abstract
Consult this French study on Orphanet
Consult this German study on Orphanet
Consult this Spanish study on Orphanet

 
To read more about "Polycythemia vera"

 
Eur J Haematol. ; 97(2):192-200 ; August 2016
 
Acquired thrombotic thrombocytopenic purpura: therapeutic plasma exchange is an efficient strategy
 
Consult the Pubmed abstract
 
To read more about "Acquired thrombotic thrombocytopenic purpura"

 
Eur J Haematol. ; 97(2):183-91 ; August 2016
 
Idiopathic intracranial hypertension: acetazolamide treatment improves quality of life of patients with mild visual loss
 
Consult the Pubmed abstract
 
To read more about "Idiopathic intracranial hypertension"

 
Neurology ; 87(18):1871-1877 ; November 2016
 
Neurofibromatosis: mind-body therapy via videoconference is feasible, accepted by patients and improves quality of life
 
Consult the Pubmed abstract
 
To read more about "Neurofibromatosis type 1"
To read more about "Neurofibromatosis type 2"
To read more about "Neurofibromatosis type 3"

 
Neurology ; 87(8):806-14 ; August 2016
 
Amyotrophic lateral sclerosis: early diaphragm pacing is associated with decreased survival
 
Consult the Pubmed abstract
 
To read more about "Amyotrophic lateral sclerosis"

 
Lancet Neurol. ; 15(12):1217-1227 ; November 2016
 
Osteosarcoma: zoledronate treatment is not recommended
 
Consult the Pubmed abstract
 
To read more about "Osteosarcoma"

 
Lancet Oncol. ; 17(8):1070-80 ; August 2016
 
Ewing sarcoma: survival benefit with Vigil treatment
 
Consult the Pubmed abstract
 
To read more about "Ewing sarcoma"

 
Mol Ther. ; 24(8):1478-83 ; August 2016
 
Glioma: temozolomide chemotherapy is not recommended
 
Consult the Pubmed abstract
Consult this study on Orphanet

 
To read more about "Glial tumor"

 
Lancet Oncol. ; 17(11):1533-1542 ; November 2016
 
Multiple myeloma: mitigated results with allogeneic stem cell transplantation
 
Consult the Pubmed abstract
 
To read more about "Multiple myeloma"

 
Eur J Haematol. ; 97(5):479-488 ; November 2016
 
Hepatocellular carcinoma: dovitinib is well tolerated but activity is not greater than sorafenib
 
Consult the Pubmed abstract
 
To read more about "Hepatocellular carcinoma"

 
Hepatology ; 64(3):774-84 ; September 2016
 
Cutaneous neuroendocrine carcinoma: avelumab represents a new therapeutic option
 
Consult the Pubmed abstract
 
To read more about "Cutaneous neuroendocrine carcinoma"

 
Lancet Oncol. ; 17(10):1374-1385 ; October 2016
 
Classic Hodgkin lymphoma: nivolumab might be a new therapeutic option
 
Consult the Pubmed abstract
Consult this Austrian study on Orphanet
Consult this Spanish study on Orphanet

 
To read more about "Classic Hodgkin lymphoma"

 
Lancet Oncol. ; 17(9):1283-94 ; September 2016
 
Mantle cell lymphoma: cytarabine immunochemotherapy followed by autologous stem-cell transplantation should be considered standard of care
 
Consult the Pubmed abstract
 
To read more about "Mantle cell lymphoma"

 
Lancet ; 388(10044):565-75 ; August 2016
 
B-cell chronic lymphocytic leukaemia: ibrutinib treatment is safe and efficient
 
Consult the Pubmed abstract
 
To read more about "B-cell chronic lymphocytic leukemia"

 
Lancet Oncol. ; 17(10):1409-1418 ; October 2016
 
Ehlers-Danlos syndrome, hypermobility type: gynecologic symptoms and the influence on reproductive life
 
Consult the Pubmed abstract
 
To read more about "Ehlers-Danlos syndrome, hypermobility type"

 
Orphanet J Rare Dis. ; 11(1):124 ; September 2016
 
Urea cycle disorders: efficacy and safety of intra-venous sodium benzoate
 
Consult the Pubmed abstract
 
To read more about "Disorder of urea cycle metabolism and ammonia detoxification"

 
Orphanet J Rare Dis. ; 11(1):127 ; September 2016
 
Immune thrombocytopenic purpura: eltrombopag is highly effective and well tolerated
 
Consult the Pubmed abstract
 
To read more about "Immune thrombocytopenic purpura"

 
Eur J Haematol. ; 97(3):297-302 ; September 2016
 
Junctional epidermolysis bullosa: allogeneic stem cell transplantation is not recommended
 
Consult the Pubmed abstract
 
To read more about "Junctional epidermolysis bullosa"

 
J Invest Dermatol. ; 136(11):2150-2157 ; November 2016
 
Acute myeloid leukaemia: FLAG chemotherapy is a useful alternative for patients with pre-existing cardiac disease
 
Consult the Pubmed abstract
 
To read more about "Acute myeloid leukemia"

 
Eur J Haematol. ; 97(5):471-478 ; November 2016
 
Combined oxidative phosphorylation defect type 17: intellectual disability as phenotype extension
 
Consult the Pubmed abstract
 
To read more about "Combined oxidative phosphorylation defect type 17"

 
Orphanet J Rare Dis. ; 11(1):139 ; October 2016
 
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome: ASAH1 variant causes a mild phenotype with no myoclonic epilepsy
 
Consult the Pubmed abstract
 
To read more about "Spinal muscular atrophy-progressive myoclonic epilepsy syndrome"

 
Eur J Hum Genet. ; 24(11):1578-1583 ; November 2016
 
Dent disease: observation of a large cohort
 
Consult the Pubmed abstract
 
To read more about "Dent disease"

 
Kidney Int. ; 90(2):430-9 ; August 2016
 
Hypophosphatasia: natural history of 101 affected children
 
Consult the Pubmed abstract
 
To read more about "Hypophosphatasia"

 
Bone ; 93:125-138 ; December 2016
 
Granulomatosis with polyangiitis and microscopic polyangiitis: systematic review and meta-analysis
 
Consult the Pubmed abstract
 
To read more about "Granulomatosis with polyangiitis"
To read more about "Microscopic polyangiitis"

 
Orphanet J Rare Dis. ; 11(1):141 ; October 2016
 
Therapeutic Approaches
 

 
X-linked intellectual disability-cerebellar hypoplasia syndrome: fasudil treatment reverses behavioural changes and brain ventricular enlargement in a mouse model
 
Consult the Pubmed abstract
 
To read more about "X-linked intellectual disability-cerebellar hypoplasia syndrome"

 
Hum Mol Genet. ; 25(11):2314-2323 ; June 2016
 
Sickle cell anaemia: PKCδ-targeted intervention relieves chronic pain in a murine model
 
Consult the Pubmed abstract
 
To read more about "Sickle cell anemia"

 
J Clin Invest. ; 126(8):3053-7 ; August 2016
 
Huntington disease: bezafibrate treatment ameliorates neuropathological features and disease phenotype in a mouse model
 
Consult the Pubmed abstract
 
To read more about "Huntington disease"

 
Hum Mol Genet. ; 25(11):2269-2282 ; June 2016
 
Rett syndrome: administration of a novel mGlu5 positive allosteric modulator VU0462807 rescues synaptic plasticity defects and motor phenotypes in a mouse model
 
Consult the Pubmed abstract
 
To read more about "Rett syndrome"

 
Hum Mol Genet. ; 25(10):1990-2004 ; May 2016
 
Wolfram syndrome: treatment with GLP-1 receptor agonist or iron chelation improves mitochondrial function and restores β-cell function in a cellular model and in one patient
 
Consult the Pubmed abstract
 
To read more about "Wolfram syndrome"

 
J Clin Endocrinol Metab. ; 101(10):3592-3599 ; October 2016
 
Glycogen storage disease due to LAMP-2 deficiency: 5-aza-2'-deoxycytidine reactivates the silent LAMP2 allele in stem cells and ameliorates their autophagy failure
 
Consult the Pubmed abstract
 
To read more about "Glycogen storage disease due to LAMP-2 deficiency"

 
Circulation ; 134(18):1373-1389. ; November 2016
 
Beta-thalassemia: injection of mice with stem cell factor plus nanoparticles containing γ peptide nucleid acids and donor DNAs ameliorates the disease phenotype
 
Consult the Pubmed abstract
 
To read more about "Beta-thalassemia"

 
Nat Commun. ; 7:13304 ; October 2016
 
Haemophilia B: delivery of human erythropoietin mRNA is therapeutically efficient in mice and monkeys
 
Consult the Pubmed abstract
 
To read more about "Hemophilia B"

 
Gene Ther. ; 23(10):699-707 ; October 2016
 
Haemolytic anaemia due to red cell pyruvate kinase deficiency: safe and efficient gene therapy in mice
 
Consult the Pubmed abstract
 
To read more about "Hemolytic anemia due to red cell pyruvate kinase deficiency"

 
Mol Ther. ; 24(7):1187-98 ; August 2016
 
Hutchinson-Gilford progeria syndrome: JH4 alleviates nuclear deformation and reverses senescence markers characteristic of cells, and improves phenotype and lifespan in mice
 
Consult the Pubmed abstract
 
To read more about "Hutchinson-Gilford progeria syndrome"

 
J Clin Invest. ; 126(10):3879-3893 ; October 2016
 
Hutchinson-Gilford progeria syndrome: metformin decreases progerin expression and alleviates pathological defects of model cells
 
Consult the abstract
 
To read more about "Hutchinson-Gilford progeria syndrome"

 
npj Aging and Mechanisms of Disease 2 ; [Epub ahead of print] ; November 2016
 
Osteogenesis imperfecta type 1: enhanced Wnt signaling improves bone mass and strength, but not brittleness in mice
 
Consult the Pubmed abstract
 
To read more about "Osteogenesis imperfecta type 1"

 
Bone ; 90:127-32 ; September 2016
 
Osteogenesis imperfecta type 4: single dose of bisphosphonate preserves gains in bone mass following cessation of sclerostin antibody in mice
 
Consult the Pubmed abstract
 
To read more about "Osteogenesis imperfecta type 4"

 
Bone ; 93:79-85 ; December 2016
 
Idiopathic pulmonary fibrosis: targeting of discoidin domain receptor 2 prevents myofibroblast activation and neovessel formation in mice
 
Consult the Pubmed abstract
 
To read more about "Idiopathic pulmonary fibrosis"

 
Mol Ther. ; 24(10):1734-1744 ; October 2016
 
Duchenne muscular dystrophy: pamidronate treatment protects mice from cortical bone loss but does not increase bone strength in mice
 
Consult the Pubmed abstract
 
To read more about "Duchenne muscular dystrophy"

 
Bone ; 90:168-80 ; September 2016
 
Spinal muscular atrophy: survival motor neuron splicing modifier SMN-C1 treatment can improve the phenotype and survival in mice
 
Consult the Pubmed abstract
 
Hum Mol Genet. ; 25(10):1885-1899 ; May 2016
 
Spinal muscular atrophy: somatic gene therapy using U7 snRNA gene increases lifespan and improves muscle function of mice
 
Consult the Pubmed abstract
 
Mol Ther. ; 24(10):1797-1805 ; October 2016
 
Kennedy disease: curcumin analog ASC-JM17 mitigates polyglutamine toxicity in cell, fly and mouse models
 
Consult the Pubmed abstract
 
To read more about "Kennedy disease"

 
Hum Mol Genet. ; 25(10):1979-1989 ; May 2016
 
X-linked centronuclear myopathy: PIK3C2B inhibition improves function and prolongs survival in mouse and zebrafish
 
Consult the Pubmed abstract
 
To read more about "X-linked centronuclear myopathy"

 
J Clin Invest. ; 126(9):3613-25 ; September 2016
 
Leishmaniasis and American and African trypanosomiasis: GNF6702, a selective inhibitor of the kinetoplastid proteasome, clears parasites from mice
 
Consult the Pubmed abstract
 
To read more about "Leishmaniasis"
To read more about "American trypanosomiasis"
To read more about "African trypanosomiasis"

 
Nature ; 537(7619):229-233 ; August 2016
 
Zika virus disease: a single immunisation with a plasmid DNA vaccine or a purified inactivated virus vaccine provides complete protection in susceptible mice
 
Consult the Pubmed abstract
 
To read more about "Zika virus disease"

 
Nature ; 536(7617):474-8 ; August 2016
 
Multiple myeloma: combined treatment with a transforming growth factor beta inhibitor (1D11) and bortezomib improves bone architecture in a mouse model
 
Consult the Pubmed abstract
 
To read more about "Multiple myeloma"

 
Bone ; 91:81-91 ; October 2016
 
Multiple myeloma: low intensity vibration mitigates tumour progression and protects bone quantity and quality in a murine model
 
Consult the Pubmed abstract
 
To read more about "Multiple myeloma"

 
Bone ; 90:69-79 ; September 2016
 
Mitochondrial diseases: review on mouse models
 
Consult the Pubmed abstract
 
Hum Mol Genet. ; 25(R2):R115-R122 ; October 2016
 
Craniofacial and skeletal congenital birth defects: review on models
 
Consult the Pubmed abstract
 
Hum Mol Genet. ; 25(R2):R86-R93 ; October 2016
 
Williams syndrome: a human neurodevelopmental model
 
Consult the Pubmed abstract
 
To read more about "Williams syndrome"

 
Nature ; 536(7616):338-43 ; August 2016
 
PMM2-CDG: novel mouse model
 
Consult the Pubmed abstract
 
To read more about "PMM2-CDG"

 
Hum Mol Genet. ; 25(11):2182-2193 ; June 2016
 
Diagnostic Approaches
 

 
Pompe disease: review on screening and diagnosis
 
Consult the abstract
 
To read more about "Glycogen storage disease due to acid maltase deficiency"

 
Expert Opinion on Orphan Drugs ; 4(10):1075-1078 ; September 2016
 
Familial long QT syndrome: probability of diagnosing the disease is ~1:3300 in subjects aged 6 years and 1:1000 in those aged 12 years based on the HRS/EHRA/APHRS criteria
 
Consult the Pubmed abstract
 
To read more about "Familial long QT syndrome"

 
Eur Heart J. ; 37(31):2490-7 ; August 2016
 
Glycogen storage disease and disorders with overlapping clinical symptoms: accurate genetic diagnoses with next-generation sequencing
 
Consult the Pubmed abstract
 
Genet Med. ; 18(10):1037-43 ; October 2016
 
Urea cycle disorders: review on brain biomarkers and neuroimaging for diagnosis
 
Consult the abstract
 
To read more about "Disorder of urea cycle metabolism and ammonia detoxification"

 
Expert Opinion on Orphan Drugs ; 4(11):1123-1132 ; November 2016
 
PRDM12 congenital insensitivity to pain: clinical feature for diagnosis
 
Consult the Pubmed abstract
 
J Med Genet. ; 53(8):533-5 ; August 2016
 
Genes associated with common variable immunodeficiency for diagnosis
 
Consult the Pubmed abstract
 
To read more about "Common variable immunodeficiency"

 
J Med Genet. ; 53(9):575-90 ; September 2016
 
Amyotrophic lateral sclerosis: review on recent advances and opportunities for improving diagnosis
 
Consult the abstract
 
To read more about "Amyotrophic lateral sclerosis"

 
Expert Opinion on Orphan Drugs ; 4(9):907-915 ; August 2016
 
Amyotrophic lateral sclerosis: diagnostic criteria
 
Consult the Pubmed abstract
 
To read more about "Amyotrophic lateral sclerosis"

 
Neurology ; 87(7):684-90 ; August 2016
 
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations: diagnostic criteria
 
Consult the Pubmed abstract
 
To read more about "Retinal vasculopathy and cerebral leukodystrophy"

 
Brain ; [Epub ahead of print] ; September 2016
 
Complex neurometabolic phenotypes: efficient gene panel analysis
 
Consult the Pubmed abstract
 
Brain ; [Epub ahead of print] ; September 2016
 
Inherited peripheral neuropathies: improving diagnosis through gene panel analysis
 
Consult the Pubmed abstract
 
Orphanet J Rare Dis. ; 11(1):118 ; August 2016
 
Pituitary adenoma: review on the risks of overlooking the diagnosis
 
Consult the Pubmed abstract
 
To read more about "Pituitary adenoma"

 
Orphanet J Rare Dis. ; 11(1):135 ; October 2016
 


 
Patient Management and Therapy
 
22q11.2 deletion syndrome: review on cognitive behavioural therapy
 
Consult the Pubmed abstract
 
To read more about "22q11.2 deletion syndrome"

 
Eur J Med Genet. ; 59(11):596-603 ; November 2016
 
Huntington disease: review on therapeutic advances
 
Consult the abstract
 
To read more about "Huntington disease"

 
Expert Opinion on Orphan Drugs ; 4(8):809-821 ; June 2016
 
Rett syndrome: review on treatments
 
Consult the abstract
 
To read more about "Rett syndrome"

 
Expert Opinion on Orphan Drugs ; 4(10):1043-1055 ; September 2016
 
Mucopolysaccharidosis type 4A: review on current therapies
 
Consult the abstract
 
To read more about "Mucopolysaccharidosis type 4A"

 
Expert Opinion on Orphan Drugs ; 4(9):941-951 ; July 2016
 
Langerhans cell histiocytosis: review on current treatments
 
Consult the abstract
 
To read more about "Langerhans cell histiocytosis"

 
Expert Opinion on Orphan Drugs ; 4(10):1057-1068 ; September 2016
 
Primary biliary cholangitis: review on investigative treatments
 
Consult the abstract
 
To read more about "Primary biliary cholangitis"

 
Expert Opinion on Orphan Drugs ; 4(10):1011-1020 ; September 2016
 
Hypoplastic left heart syndrome: review on current therapy
 
Consult the Pubmed abstract
 
To read more about "Hypoplastic left heart syndrome"

 
Circulation ; 134(17):1265-1279 ; October 2016
 
Dystrophinopathies: review on cardiomyopathy management
 
Consult the abstract
 
Expert Opinion on Orphan Drugs ; 4(10):1159-1178 ; September 2016
 
Bronchiectasis: review on ciprofloxacin dry powder for inhalation
 
Consult the abstract
 
To read more about "Idiopathic bronchiectasis"

 
Expert Opinion on Orphan Drugs ; 4(8):1159-1178 ; September 2016
 
Common variable immunodeficiency: review on treatment
 
Consult the abstract
 
To read more about "Common variable immunodeficiency"

 
Expert Opinion on Orphan Drugs ; 4(8):823-830 ; July 2016
 
Corneal diseases: review on mesenchymal stem cell therapy
 
Consult the abstract
 
Expert Opinion on Orphan Drugs ; 4(9):917-926 ; August 2016
 
Acanthamoeba keratitis: review on treatment strategies
 
Consult the abstract
 
To read more about "Acanthamoeba keratitis"

 
Expert Opinion on Orphan Drugs ; 4(10):1069-1073 ; September 2016
 
Giant cell arteritis and polymyalgia rheumatica: review on management
 
Consult the abstract
 
To read more about "Giant cell arteritis"
To read more about "Polymyalgia rheumatica"

 
Expert Opinion on Orphan Drugs ; 4(11):1133-1144 ; October 2016
 
Duchenne muscular dystrophy: review on pharmacological therapeutics
 
Consult the abstract
 
To read more about "Duchenne muscular dystrophy"

 
Expert Opinion on Orphan Drugs ; 4(11):1179-1194 ; September 2016
 
Myelodysplastic syndromes: review on rigosertib for the treatment
 
Consult the abstract
 
To read more about "Myelodysplastic syndrome"

 
Expert Opinion on Orphan Drugs ; 4(9):981-988 ; July 2016
 
Multiple myeloma: review on carfilzomib for the treatment
 
Consult the abstract
 
To read more about "Multiple myeloma"

 
Expert Opinion on Orphan Drugs ; 4(9):989-999 ; August 2016
 
Glioma: review on VB11 for the treatment
 
Consult the abstract
 
To read more about "Glial tumor"

 
Expert Opinion on Orphan Drugs ; 4(11):1099-1103 ; September 2016
 
Acute myeloid leukaemia: review on vosaroxin for the treatment
 
Consult the abstract
 
To read more about "Acute myeloid leukemia"

 
Expert Opinion on Orphan Drugs ; 4(8):885-892 ; June 2016
 
Chronic lymphocytic leukaemia: review on lenalidomide for the treatment
 
Consult the abstract
 
To read more about "B-cell chronic lymphocytic leukemia"

 
Expert Opinion on Orphan Drugs ; 4(9):971-980 ; July 2016
 
Chronic lymphocytic leukaemia: review on venetoclax for the treatment
 
Consult the abstract
 
To read more about "B-cell chronic lymphocytic leukemia"

 
Expert Opinion on Orphan Drugs ; 4(10):1087-1093 ; September 2016
 
Chronic myeloid leukaemia: review on orphan drug development
 
Consult the abstract
 
To read more about "Chronic myeloid leukemia"

 
Expert Opinion on Orphan Drugs ; 4(8):837-843 ; June 2016
 
Splenic marginal zone lymphoma: review on current and emerging treatments
 
Consult the abstract
 
To read more about "Splenic marginal zone lymphoma"

 
Expert Opinion on Orphan Drugs ; 4(9):897-905 ; August 2016
 
Diffuse large B-cell lymphoma: review on central nervous system prophylaxis
 
Consult the Pubmed abstract
 
To read more about "Diffuse large B-cell lymphoma"

 
Eur J Haematol. ; 97(2):108-20 ; August 2016
 
Classic Hodgkin lymphoma: review on pembrolizumab for the treatment
 
Consult the Pubmed abstract
 
To read more about "Classic Hodgkin lymphoma"

 
Eur J Haematol. ; 97(3):219-27 ; September 2016
 
Wilson disease and hereditary haemochromatosis: review on molecular genetics
 
Consult the Pubmed abstract
 
To read more about "Wilson disease"

 
Eur J Med Genet. ; 59(10):532-9 ; October 2016
 
RASopathies: review on pathogenetics
 
Consult the Pubmed abstract
 
Hum Mol Genet. ; 25(R2):R123-R132 ; October 2016
 
2q23.1 microdeletion syndrome: review on clinical and molecular aspects
 
Consult the Pubmed abstract
 
To read more about "2q23.1 microdeletion syndrome"

 
Eur J Hum Genet. ; 24(9):1235-43 ; August 2016
 
Myelodysplastic syndromes: review on molecular pathophysiology
 
Consult the Pubmed abstract
 
To read more about "Myelodysplastic syndrome"

 
Eur J Haematol. ; 97(4):313-20 ; October 2016
 
Kindler syndrome: a review
 
Consult the abstract
 
To read more about "Kindler syndrome"

 
Expert Opinion on Orphan Drugs ; 4(8):845-854 ; July 2016
 
Gitelman syndrome: review of clinical features, genetic diagnosis and therapeutic management
 
Consult the abstract
 
To read more about "Gitelman syndrome"

 
Expert Opinion on Orphan Drugs ; 4(10):1005-1009 ; August 2016
 
Guillain-Barré syndrome: three reviews
 
Consult the first abstract
Consult the Pubmed abstracts

 
To read more about "Guillain-Barré syndrome"

 
Brain ; 139:3041-3047 ; October 2016
Expert Rev Clin Immunol. ; 12(11):1175-1189 ; November 2016
Lancet ; 388(10045):717-27 ; August 2016
 
Gaucher disease: a review
 
Consult the Pubmed abstract
 
To read more about "Gaucher disease"

 
Hum Mutat. ; 37(11):1121-1136 ; November 2016
 
Ehlers-Danlos syndrome: review on pain
 
Consult the abstract
 
To read more about "Ehlers-Danlos syndrome"

 
Expert Opinion on Orphan Drugs ; 4(11):1145-1158 ; September 2016
 
LIG4 syndrome: a review
 
Consult the Pubmed abstract
 
To read more about "LIG4 syndrome"

 
Orphanet J Rare Dis. ; 11(1):137 ; October 2016
 
Cutaneous porphyria: review on cause, symptoms and treatments
 
Consult the Pubmed abstract
 
To read more about "Porphyria"

 
Acta Derm Venereol. ; 96(7):868-872 ; November 2016
 
Hypertrophic osteoarthropathy: review on classification, diagnosis and treatment
 
Consult the abstract
 
To read more about "Primary hypertrophic osteoarthropathy"

 
Expert Opinion on Orphan Drugs ; 4(8):831-836 ; July 2016
 
Zika virus disease: a review
 
Consult the Pubmed abstract
 
To read more about "Zika virus disease"

 
Brain ; 139(Pt 8):2122-30 ; August 2016
 
Cutaneous T-cell lymphoma: a NORD guide for physicians
 
Consult the guide
 
Special issue of ‘European Heart Journal’ on Tako-Tsubo cardiomyopathy
 
Consult the special issue
 
To read more about "Tako-Tsubo cardiomyopathy"

 
European Heart Journal ; Vol 37 No 37 ; October 2016
 
Special issue of ‘Nature’ on lysosomal storage disorders
 
Consult the special issue
 
Nature ; 537(7621):S145-S192 ; September 2016
 
Five new and one updated Clinical Utility Gene Cards published in the European Journal of Human Genetics
 
EuroGentest, the EU-funded Network of Excellence for genetic testing, has developed disease-specific points to consider regarding clinical indications for genetic testing - the Clinical Utility Gene Cards (CUGCs). These documents provide clinicians and clinical geneticists with guidance on genetic testing for specific conditions in real settings of clinical genetic services. Published in the European Journal of Human Genetics and also available on the Orphanet website, the CUGCs focus on Mendelian diseases.

The European Journal of Human Genetics has published five new Clinical Utility Gene Card for:
Peters plus syndrome
Wolfram syndrome
Congenital generalised lipodystrophy
Aniridia
Familial platelet syndrome with predisposition to acute myelogenous leukaemia

The European Journal of Human Genetics has published one updated Clinical Utility Gene Card for: Meckel syndrome

 
Four new and 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. Four new GeneReviews have been published for:
MBD5 haploinsufficiency
Kaufman oculocerebrofacial syndrome
BAP1 tumour predisposition syndrome
Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis

Six updated GeneReviews have been published for:
Ataxia-telangiectasia
Phenylalanine hydroxylase deficiency
Wilms tumour predisposition
Ataxia with vitamin E deficiency
Catecholaminergic polymorphic ventricular tachycardia
Epidermolysis bullosa simplex

 


 
Orphan Drugs
 
Political and Scientific News
 
Addressing the variability of the 6 minute walk test for Duchenne muscular dystrophy
 
The 6 minute walk distance (6MWD) has been used as an outcome measure in clinical trials for several Duchenne muscular dystrophy (DMD) treatments such as ataluren, drisapresen, eteplirsen. However, due to the large variability that is often observed in patients tested using 6MWD, an article published in Neuromuscular Disorders assessed whether boys with DMD could be grouped into classes that shared similar ambulatory function trajectories as measured by 6MWD. The authors tested boys with a confirmed diagnosis, above the age of 5 for a span of 3 years. According to the authors this study “demonstrate(s) that it is possible to reduce the high variability of 3-year change in 6MWD in DMD patients by approximately 40% over and above the 10–15% reduction provided by baseline age, 6MWD and steroid use.” They believe that “the natural history of ambulatory function in DMD may be composed of distinct trajectory classes.”
Read the Open Access article

 
NICE issues draft guidance backing Galafold for Fabry disease
 
The National Institute for Health and Care Excellence (NICE) recently issued a draft of the publication for ‘Highly Specialized Technologies’ guidance which has recommended Galafold (migalastat) for the treatment of Fabry disease. The draft migalastat it only when the company provides it with the confidential discount agreed in the patient access scheme and adds to current approved indications. According to NICE’s although the clinical effectiveness evidence for migalastat was highly uncertain, the drug provides similar benefits to Enzyme Replacement Therapy at a lower cost and has other benefits such as ease of administering the treatment.
For further information

 
Profitability and market value of orphan drug companies
 
A study published in PLOS One has analysed the profitability of companies producing orphan drugs in Europe and the United States. The study found that companies receiving marketing authorisation for orphan drugs were more profitable and had a higher return on assets, commanding a higher market value compared to non-orphan drug companies. According to authors, these companies receive many incentives due to the orphan drug legislations, spend lesser for research and development, have non-orphan indications and are priced at a level that is 6 times higher than non-orphan drugs. The authors believe that “that policies directed towards incentivising orphan drug development have worked to the extent that companies are profiting excessively.”
Read the Open Access article

 
Priority review voucher of the United States: should it be expanded to all orphan drugs
 
The priority review voucher (PRV) was conceived to encourage drug sponsors to produce treatments for “non-profitable” diseases, such as rare paediatric diseases, by giving them a voucher to receive expedited regulatory review of different, potentially more profitable drugs, as an incentive. Whether this incentive should be expanded more broadly to rare diseases and whether it has been successful has been addressed in an article published in Expert Opinion on Orphan Drugs. According to the authors the current system has been vulnerable to misuse and it interferes with the Food and Drug Administrations’ ability to set priorities based on public health needs. According to the authors, even though the incentive is “alluring” as it does not require additional budget earmarking, there are fundamental challenges which have to be addressed before broadening it to all rare diseases.
Access the article

 


 
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

 
Palliative Care Needs of Individuals with Rare Advanced Diseases and Their Family Caregivers (R01 and R21)
 
This funding opportunity announcement (FOA) seeks to expand knowledge and increase the evidence base for palliative care (PC) in advanced rare diseases, including rare cancers, and to improve physical and psychosocial well-being and quality of life among seriously ill individuals and their family caregivers. This funding opportunity announcement (FOA) seeks to expand knowledge and increase the evidence base for palliative care (PC) in advanced rare diseases, including rare cancers, and to improve physical and psychosocial well-being and quality of life among seriously ill individuals and their family caregivers. The deadline for receipt of applications is the 8 January 2017.
For more information on the R01 grant
For more information on the R21 grant

 
E-Rare-3 Call for proposals 2017: Transnational Research Projects for Innovative Therapeutic Approaches for Rare Diseases
 
The aim of the call is to enable scientists in different countries to build an effective collaboration on a common interdisciplinary research project based on complementarities and sharing of expertise, with a clear translational research approach. Projects shall involve a group of rare diseases or a single rare disease following the European definition i.e. a disease affecting not more than five in 10.000 persons in the European Community, EC associated states and Canada.
The deadline for receipt of applications is the 8 January 2017.
For more information

 


 
Courses & Educational Initiatives
 

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

This course is designed to provide advanced training in constitutional, haematological, and oncological cytogenetics to medical graduates, pharmacists, pathologists, biologists, health professionals and researchers, with an academic qualification. The students will be trained to identify genetic abnormalities for diagnosis and prognosis, and for fundamental and applied research using both classical and molecular cytogenetic techniques. The course is co-organized by E.C.A. and two French Universities, either as a stand-alone course with only the theoretical part or as a University Diploma including both theoretical and practical training. An application for CME points will also be made for 2016.
For further information

 
Building rare communities workshop
 
Date: 4 February, 2017

Venue: Birmingham, United Kingdom

The Building Rare Communities project empowers patient support groups to be a reliable and sustainable source of information and support. They will also empower you to develop the organisation to meet your patients’ needs. Genetic Alliance UK is running a one day workshop which will take place in Birmingham.
For further information

 
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

 
ExPRESS 2017 Expert Patient and Researcher EURORDIS Summer School
 
Date: June 5-9, 2017

Venue: Barcelona, Spain

The programme allows patients and researchers to sharpen their advocacy skills and gain an understanding of the regulatory process of orphan medicinal products so that they are able to advocate at a European level. The programme has online and face-to-face components. The face-to-face portion trains 40 expert patients annually as part of an intensive 4.5 day course held in Barcelona, Spain.
For further information

 


 
What's on Where?
 

 
15th Annual King's College Neuromuscular Disease Symposium
 
Date: 27 January, 2017
Venue: London, United Kingdom

This annual educational meeting is aimed primarily at clinicians who treat patients with diseases of the peripheral nervous system and muscle.
For further information

 
From Genomics to Therapy
 
Date: 5-7 February, 2017
Venue: Barcelona, Spain

Human Genome Meeting (HGM) is the key annual conference organised by the Human Genome Organisation (HUGO). Initially structured as a dedicated meeting for Human Genome Mapping, the HGM has evolved into a major scientific conference for human genetics & genomics, genomic medicine, and genomic biology. The HGM is also an excellent platform for industry partners and bio-technology companies as well as pharmaceutical giants.
For further information

 
Patients as Partners EU
 
Date: 6-7 February 2017
Venue: London, United Kingdom

Patients as Partners EU is co-produced with patients, industry, academia, government and nonprofit organizations to establish a well-rounded program that addresses the needs of all stakeholders seeking to implement and advance patient involvement across the entire clinical development continuum.
For further information

 
3rd International Rare Disease Research conference
 
Date: 8-9 February 2017
Venue: Paris, France

All stakeholders – active investigators, policy makers, opinion leaders, critical thinkers, young researchers and patient advocates alike – active in the area of rare diseases from across the globe are invited to join us to celebrate achievements in the field, identify future milestones and goals, and work toward bringing diagnoses and therapies to all rare disease patients.
For further information

 
2017 Rare Disease Day Symposium Alagille Syndrome — New Research, New Hope
 
Date: 24 February 2017
Venue: La Jolla, United States

The 2017 SBP Rare Disease Day Symposium will focus on Alagille Syndrome, with emphasis on the areas of biliary paucity, genetic mechanism, Notch signaling, and biliary development/regeneration. Scientists, clinicians, advocates, patients and their families are invited to join experts in the ALGS field to foster new perspectives, ideas, and collaborations and accelerate efforts toward a cure for this syndrome.
For further information

 
7th International Meeting on Pulmonary Rare Diseases and Orphan Drugs
 
Date: 24-25 February 2017
Venue: Milan, Italy

This meeting will highlight that rare diseases represent an important field of medicine not only for pulmonologists who are skilled in diagnosing and treating particular groups of these illnesses but for all respiratory physicians
For further information

 
BPSU - Rare Disease Conference 2017: From bench to bedside - new treatments for children with rare disease
 
Date: 27 February 2017
Venue: Birmingham, United Kingdom

The conference will will allow cutting edge scientific data to be presented from world leading clinicians, scientists, policy-makers and patient groups.
For further information

 
The Right to Health: The Rare Disease Perspective
 
Date: 10 February, 2017
Venue: Geneva, Switzerland

The is a Rare Diseases International Policy Event event which will gather international experts in the fields of public health, human rights, epidemiology, scientific research and patient advocacy to discuss why and how rare diseases should be included in the global health agenda.
For further information

 
Findacure Scientific Conference on Drug Repurposing for Rare Diseases
 
Date: 28 February, 2017
Venue: London, United Kingdom

This day long event seeks to create a forum that brings together patient groups, clinicians, researchers, biotech companies, and the pharmaceutical industry to discuss the role that drug repurposing can play in the future of rare disease treatment.
For further information

 
Rare and Undiagnosed Diseases: Discovery and Models of Precision Therapy
 
Date: 5-8 March, 2017
Venue: Massachusetts, United States of America

Through this meeting, participants should become familiar with rare and undiagnosed disease programs, acquire insights into new disease mechanisms, learn about potential therapeutic targets, and establish collaborations that enhance rare disorder expertise and new disease discovery. The meeting will bring together physicians who are expert in rare disorders with scientists who know metabolic pathways and mechanisms, advancing understanding and therapy.
For further information

 
5th Annual Paediatric Oncology Conference
 
Date: 2-3 March, 2017
Venue: Brussels, Belguim

The conference is part of a unique multi-stakeholder joint initiative, the ACCELERATE multi-stakeholder Platform. Co-organised by CDDF, ITCC and SIOPE, this platform provides a transparent forum enabling patients and parents’ organisations, academic paediatric oncologists and haematologists, pharmaceutical companies and EU regulatory network representatives to collaborate and jointly address specific obstacles to a faster and more effective treatments for children and adolescents with cancer, including the needed changes to the Paediatric Medicines Regulation.
For further information

 
Paediatric Clinical Trials
 
Date: 20-21 March, 2017
Venue: London, United Kingdom

This conference will discuss current clinical trials, implementation and paediatric drug development in a series of interactive conference sessions, roundtables and workshops led by leading industry experts.
For further information

 
15th WFH International Musculoskeletal Congress
 
Date: 5-7 May, 2017
Venue: Seoul, South Korea

The Congress program will feature presentations, posters, and exhibit displays with a focus on musculoskeletal approaches to hemophilia. Key developments in the field will be addressed, making the event relevant to orthopedists and physical therapists around the world.
For further information

 
Advances in transgenic animal models and techniques
 
Date: 11-12 May, 2017
Venue: Nantes, France

The meeting will give the opportunity to update information on techniques and models in transgenesis and genetic engineering.It is intended for Master, PhD and medical students with a background in molecular biology and genetics as an introduction to future work in these rapidly developing areas of research.
For further information

 
4th International Clinical Trials Methodology Conference
 
Date: 7-10 May, 2017
Venue: Liverpool, United Kingdom

This event promises to be a unique opportunity for those working in clinical trials to collaborate at a world leading conference venue to discuss the issues pertinent in trials today.
For further information

 
11th European Cytogenetics Conference 2017
 
Date: 1-4 July 2017
Venue: Florence, Italy


For further information

 
3rd World Conference on Congenital Disorders of Glycosylation
 
Date: 15 - 16 July 2017
Venue: Leuven; Belgium

The "World Conference on Congenital Disorders of Glycosylation (WCCDG) for Families and Professionals” is a biennial event fruitfully designed in collaboration with leading experts in the 􀃚eld of CDG: families and professionals work together to exchange knowledge, experiences, needs and perspectives.
For further information

 
International Ataxia Research Conference IARC
 
Date: 27-30 September, 2017
Venue: Pisa, Italy

GoFAR, FARA and Ataxia UK in collaboration host what will be the second edition IARC where the latest research on 'Friedreich's ataxia will be presented and discussed. SCA and other progressive ataxias will also be presented and discussed. Plenary sessions will include the progress in the field of gene therapy, animal and cellular models, approaches pharmacologists and their development and clinical research.
For further information


 
Commercial events


 
Pharma Pricing & Market Access Congress
 
Date: 22-23 February, 2017
Venue: London, United Kingdom

Discuss pricing, patient centricity and global market access all in one place. With collaboration high on the agenda, World Pharma Pricing and Market Access gives you excellent opportunities to hear from payers, pharma, patient led organisations and providers. Attend Europe’s largest, most respected market access and pricing conference to benchmark y0strategic decision making. - See more at: http://www.healthnetworkcommunications.com/conference/pharma-pricing/index.stm#sthash.OxQSl6E4.dpuf
For further information

 
Orphan Drugs and Rare Diseases Europe 2017
 
Date: 14-15 May, 2017
Venue: Berlin, Germany

This conference will discuss the controversial German pricing mechanism as well as bring together leading industry professionals to discuss the latest regulatory developments, explore how to reduce costs and learn from the latest innovations in the orphan drug landscape.
For further information

 
World Orphan Drugs Congress Asia
 
Date: 3-4 June, 2017
Venue: Singapore

Bringing 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

 


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

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

INTERNATIONAL CORRESPONDENTS
Orphanet Partner Country Representatives: Romi Armando (Argentina), Kristine Hovhannesyan (Armenia), Hugh Dawkins (Australia), Till Voigtlander (Austria), Rumen Stefanov (Bulgaria), Micheil Innes (Canada), Ingeborg Barisic (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek (Czech Republic), John Rosendahl Ostergaard (Denmark), Vallo Tillmann (Estonia), Sirpa Ala-Mello (Finland), Joerg Schmidtke (Germany), Eileen Treacy (Ireland), Annick Raas-Rothschild (Israel), Bruno Dallapiccola (Italy), Tomoko Kodama (Japan), Jana Lepiksone (Latvia), André Mégarbané (Lebanon), Vaidutis Kucinskas (Lithuania), Yolande Wagener (Luxembourg), Abdelaziz Sefiani (Morocco), Gert-Jan van Ommen (Netherlands), Stein Are Aksnes (Norway), Malgorzata Krajewska-Walasek (Poland), Paul Nogueira (Portugal), Cristina Rusu (Romania), Dragica Radojkovic (Serbia), Laszlo Kovacs (Slovakia), Luca Lovrecic (Slovenia), Francesc Palau (Spain), Désirée Gavhed (Sweden), Loredana D'Amato Sizonenko (Switzerland), Dorra H'mida (Tunisia), Ugur Ozbek (Turkey), Sarah Stevens (UK)
Orphanet - All rights reserved
Disclaimer : This newsletter is part of the project / joint action .677024 / RD-ACTION. which has received funding from the European Union.s Health Programme (2014-2020).
The content of newsletter represents the views of the Editorial Board only and is his/her sole responsibility; it cannot be considered to reflect the views of the European Commission and/or the Consumers, Health, Agriculture and Food Executive Agency or any other body of the European Union. The European Commission and the Agency do not accept any responsibility for use that may be made of the information it contains.

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