OrphaNews Europe : 17 March 2015

EURORDIS awards excellence in the rare disease community

EU Policy News
Mitochondrial replacement therapy passes the vote of the House of Lords in the UK
Annual report on Small and Medium Enterprise reflect increased use of EMA resources

National & International Policy Developments
Other European news
European Commission action on rare diseases fact sheet
Cost minimisation an important factor for reimbursement recommendation in Scotland
NHS England issues proposal to redesign of genomic laboratory services
Other International News
Ontario to provide 'interim' funding for Soliris
Institute of Medicine in the United States currently studying the ethical and social implications of mithochondrial replacement therapy
NHGRI of the United States updates online resource on informed consent for genomics research
Guidance Documents and Recommendations
Fanconi anemia: recommendations for screening and treatment for endocrine disorders
Bioinformatics, Registries and Data Management
GeneYenta: tinder for rare disease patients
Uncovering disease-disease relationships through the incomplete interactome

Ethical, Legal & Social Issues
Cure Black Bone Disease: Donate generously!
The labyrinth of patenting human embryonic stem cells
The battle to patent the genome editing technology CRISPR-Cas9

Orphanet News
Orphanet Reports Series update on Registries and Research Infrastructures useful to Rare Diseases in Europe

New Syndromes
New syndrome of 20q11.2 microdeletion described in six patients
Microduplication of chromosome Xq25 encompassing STAG2 gene in a boy with intellectual disability
Autosomal recessive infantile neurodegenerative mitochondrial disorder due to ISCA2 mutation in six patients from five unrelated consanguineous families
Novel congenital microcephaly malformation syndrome caused by CENPF mutations

New Genes
Infantile achalasia is associated with truncating homozygous mutation in NOS1 in two siblings
Autosomal recessive popliteal pterygium syndrome caused by homozygous mutation of IRF6 and Bartsocas-Papas syndrome linked to CHUK mutations
Nodular sclerosis classical Hodgkin lymphoma associated with B2M deficiency
Cole-Carpenter syndrome might be caused by a homozygous pathogenic mutation in CRTAP
Association between susceptibility to Kawasaki disease and genomic hypomethylation of FCGR2A

Research in Action
Clinical Research
Huntington disease: peripheral blood is a useful source to identify biomarkers and monitor disease progression
Sandhoff disease: treatment with miglustat and a ketogenic diet improves patient’s seizure control and cardiac function
Gaucher disease type 1: treatment with eliglustat results in significant improvements in spleen and liver volume, hemoglobin level, and platelet count
Niemann-Pick disease type C: miglustat treatment improves or stabilizes neurological manifestations, at least for a period of time
Relapsed or refractory Hodgkin lymphoma: durable remissions in a phase 2 study of brentuximab vedotin
Relapsed or refractory diffuse large B-cell lymphoma: brentuximab vedotin demonstrates objective responses in a phase 2 study
Mantle cell lymphoma: replacing vincristine by bortezomib in frontline therapy is more effective but increases hematologic toxicity
Congenital hypothyroidism may result in adverse pregnancy outcomes
Association of achondroplasia with scaphocephaly and other craniosynostoses may be under recognised
15q11q13 microduplication syndrome: gastrointestinal problems are common and may have an atypical presentation
Therapeutic Approaches
Cornelia de Lange syndrome: L-leucine partially rescues translational and developmental defects in zebrafish models
Leber congenital amaurosis: genetic deletion of S-opsin prevents rapid cone degeneration in a mouse model
Long-term correction of Sandhoff disease following intravenous delivery of recombinant adeno-associated virus 9 to mouse neonates
Angelman syndrome: partial restoration of UBE3A protein in mouse model ameliorates some cognitive deficits
Novel pig model of spinal muscular atrophy
Diagnostic Approaches
Kleine-Levin syndrome: differential diagnoses are mostly psychiatric, and less frequently sleep and neurological disorders

Patient Management and Therapy
Hemophilia A: review on next-generation treatment
Hepatocellular carcinoma: review on tivantinib for the treatment
Amniotic bands: a review
Smith-Lemli-Opitz syndrome: review on pathogenesis, epidemiology, diagnosis and clinical aspects
Phenylketonuria: review on bone health
Peripartum cardiomyopathy: review on current management and future perspectives
Cardiac sarcoidosis: review on epidemiology, characteristics and outcomes
Three new and nine updated GeneReviews published

Orphan Drugs
Combating the high prices of orphan drugs
Regulatory News
FDA approves Farydak for treatment of multiple myeloma
Direct to consumer genetic carrier test gets marketing authorisation and Class II designation by the FDA
ASHG Public Comments on FDA’s Draft Guidance of Framework for Regulatory Oversight of Laboratory Developed Tests
Twenty Two Positive opinions recommending orphan designation at the February 2015 COMP meeting
Jinarc recommended for approval in rare kidney Disease by the EMA
Political and Scientific News
The megafund model to finance development of orphan drugs: analysing the NCATS portfolio

NBIA Disorders Association Grant for Neurodegeneration with Brain Iron Accumulation (NBIA)
DEBRA International : Call for research proposals 2015
The ECD Global Alliance is soliciting Letters of Intent for funding of research projects focused on the study of Erdheim-Chester Disease
The Ataxia of Charlevoix-Saguenay Foundation
ERARE: Joint Transnational Call 2015
AFM Telethon: Call for proposals

Courses & Educational Initiatives
The 3rd Edition of Orphan Drug & Rare Disease Seminar
3rd radiz Rare Diseases Summer School
Courses offered by Recordati Rare Diseases Foundation

What's on Where?
The ACMG Annual Clinical Genetics Meeting
International Ataxia Research Conference
Rare Diseases Summit Australia
3rd Asia-Pacific Prader-Willi Syndrome Conference 2015: From Better Start to Better Living
Genetic insider: 1st International congress on Clinical Genetics and Genetic Counselling
3Gb-TEST course on NGS: Next-generation sequencing in a diagnostic setting
13th International Symposium on Mutation in the Genome: detection, genome sequencing & interpretation
2nd International GENCODYS Conference on Integrative Networks in Intellectual Disabilities
6th International conferences on ectodermal dysplasia
Trisomy 21 Research Society (T21RS) International Conference
The European Human Genetics Conference 2015
34th Annual European Malignant Hyperthermia Group (EMHG) Meeting
22nd International Meeting of the Pediatric Colorectal Club 2015
International Myotonic Dystrophy Consortium Meeting (IDMC)
Tourette Syndrome Congress 2015
7th International Conference on Children’s Bone Health
The First Russian Congenital Aniridia Conference
10th European Cytogenetics Conference
10th International Conference: One Carbon Metabolism, vitamins B and Homocysteine
4th International RASopathies Symposium
Glycoproteinoses: Fourth International Conference on Advances in Pathogenesis and Therapy
SSIEM Official Satellite Symposia Second World Conference on Congenital Disorders of Glycosylation (CDG)
Tyrosinemia 2015
The PANDAS 2015 Lake Como Conference
8 International Congress of Familial Mediterranean Fever and Systemic Autoinflammatory Diseases
First European Congress on Hereditary ATTR amyloidosis ECATTR
2nd International Primary Immunodeficiencies Congress (IPIC)
13th International Congress of Human Genetics (ICHG) 2016
ESID European Society for Immunodeficiencies: Biennial meeting
Pharma Pricing and Market Access Congress 2015
World Orphan Drug Congress USA 2015
10th annual World Stem Cells & Regenerative Medicine Congress
Pan-Omics Summit
2nd Metabolomics - Advances & Applications in Human Disease Conference
World Orphan Drug Congress Asia 2015

Media, Press & Publications

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