| Editorial |
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EURORDIS awards excellence in the rare disease community |
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EU Policy News |
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Mitochondrial replacement therapy passes the vote of the House of Lords in the UK |
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EMA |
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Annual report on Small and Medium Enterprise reflect increased use of EMA resources |
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National & International Policy Developments |
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Other European news |
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European Commission action on rare diseases fact sheet |
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Cost minimisation an important factor for reimbursement recommendation in Scotland |
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NHS England issues proposal to redesign of genomic laboratory services |
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Other International News |
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Ontario to provide 'interim' funding for Soliris |
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Institute of Medicine in the United States currently studying the ethical and social implications of mithochondrial replacement therapy |
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NHGRI of the United States updates online resource on informed consent for genomics research |
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Guidance Documents and Recommendations |
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Fanconi anemia: recommendations for screening and treatment for endocrine disorders |
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Bioinformatics, Registries and Data Management |
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GeneYenta: tinder for rare disease patients |
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Uncovering disease-disease relationships through the incomplete interactome |
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Ethical, Legal & Social Issues |
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Cure Black Bone Disease: Donate generously! |
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The labyrinth of patenting human embryonic stem cells |
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The battle to patent the genome editing technology CRISPR-Cas9 |
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Orphanet News |
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Orphanet Reports Series update on Registries and Research Infrastructures useful to Rare Diseases in Europe |
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New Syndromes |
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New syndrome of 20q11.2 microdeletion described in six patients |
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Microduplication of chromosome Xq25 encompassing STAG2 gene in a boy with intellectual disability |
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Autosomal recessive infantile neurodegenerative mitochondrial disorder due to ISCA2 mutation in six patients from five unrelated consanguineous families |
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Novel congenital microcephaly malformation syndrome caused by CENPF mutations |
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New Genes |
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Infantile achalasia is associated with truncating homozygous mutation in NOS1 in two siblings |
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Autosomal recessive popliteal pterygium syndrome caused by homozygous mutation of IRF6 and Bartsocas-Papas syndrome linked to CHUK mutations |
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Nodular sclerosis classical Hodgkin lymphoma associated with B2M deficiency |
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Cole-Carpenter syndrome might be caused by a homozygous pathogenic mutation in CRTAP |
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Association between susceptibility to Kawasaki disease and genomic hypomethylation of FCGR2A |
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Research in Action |
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Clinical Research |
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Huntington disease: peripheral blood is a useful source to identify biomarkers and monitor disease progression |
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Sandhoff disease: treatment with miglustat and a ketogenic diet improves patient’s seizure control and cardiac function |
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Gaucher disease type 1: treatment with eliglustat results in significant improvements in spleen and liver volume, hemoglobin level, and platelet count |
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Niemann-Pick disease type C: miglustat treatment improves or stabilizes neurological manifestations, at least for a period of time |
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Relapsed or refractory Hodgkin lymphoma: durable remissions in a phase 2 study of brentuximab vedotin |
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Relapsed or refractory diffuse large B-cell lymphoma: brentuximab vedotin demonstrates objective responses in a phase 2 study |
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Mantle cell lymphoma: replacing vincristine by bortezomib in frontline therapy is more effective but increases hematologic toxicity |
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Congenital hypothyroidism may result in adverse pregnancy outcomes |
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Association of achondroplasia with scaphocephaly and other craniosynostoses may be under recognised |
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15q11q13 microduplication syndrome: gastrointestinal problems are common and may have an atypical presentation |
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Therapeutic Approaches |
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Cornelia de Lange syndrome: L-leucine partially rescues translational and developmental defects in zebrafish models |
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Leber congenital amaurosis: genetic deletion of S-opsin prevents rapid cone degeneration in a mouse model |
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Long-term correction of Sandhoff disease following intravenous delivery of recombinant adeno-associated virus 9 to mouse neonates |
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Angelman syndrome: partial restoration of UBE3A protein in mouse model ameliorates some cognitive deficits |
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Novel pig model of spinal muscular atrophy |
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Diagnostic Approaches |
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Kleine-Levin syndrome: differential diagnoses are mostly psychiatric, and less frequently sleep and neurological disorders |
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Patient Management and Therapy |
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Hemophilia A: review on next-generation treatment |
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Hepatocellular carcinoma: review on tivantinib for the treatment |
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Amniotic bands: a review |
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Smith-Lemli-Opitz syndrome: review on pathogenesis, epidemiology, diagnosis and clinical aspects |
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Phenylketonuria: review on bone health |
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Peripartum cardiomyopathy: review on current management and future perspectives |
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Cardiac sarcoidosis: review on epidemiology, characteristics and outcomes |
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Three new and nine updated GeneReviews published |
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Orphan Drugs |
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Combating the high prices of orphan drugs |
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Regulatory News |
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FDA approves Farydak for treatment of multiple myeloma |
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Direct to consumer genetic carrier test gets marketing authorisation and Class II designation by the FDA |
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ASHG Public Comments on FDA’s Draft Guidance of Framework for Regulatory Oversight of Laboratory Developed Tests |
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Twenty Two Positive opinions recommending orphan designation at the February 2015 COMP meeting |
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Jinarc recommended for approval in rare kidney Disease by the EMA |
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Political and Scientific News |
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The megafund model to finance development of orphan drugs: analysing the NCATS portfolio |
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Grants |
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NBIA Disorders Association Grant for Neurodegeneration with Brain Iron Accumulation (NBIA) |
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DEBRA International : Call for research proposals 2015 |
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The ECD Global Alliance is soliciting Letters of Intent for funding of research projects focused on the study of Erdheim-Chester Disease |
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The Ataxia of Charlevoix-Saguenay Foundation |
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ERARE: Joint Transnational Call 2015 |
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AFM Telethon: Call for proposals |
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Courses & Educational Initiatives |
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The 3rd Edition of Orphan Drug & Rare Disease Seminar |
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EURORDIS ExPRESS 2015 |
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3rd radiz Rare Diseases Summer School |
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Courses offered by Recordati Rare Diseases Foundation |
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What's on Where? |
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The ACMG Annual Clinical Genetics Meeting |
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International Ataxia Research Conference |
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Rare Diseases Summit Australia |
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3rd Asia-Pacific Prader-Willi Syndrome Conference 2015: From Better Start to Better Living |
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Genetic insider: 1st International congress on Clinical Genetics and Genetic Counselling |
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3Gb-TEST course on NGS: Next-generation sequencing in a diagnostic setting |
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13th International Symposium on Mutation in the Genome: detection, genome sequencing & interpretation |
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2nd International GENCODYS Conference on Integrative Networks in Intellectual Disabilities |
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6th International conferences on ectodermal dysplasia |
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Trisomy 21 Research Society (T21RS) International Conference |
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The European Human Genetics Conference 2015 |
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34th Annual European Malignant Hyperthermia Group (EMHG) Meeting |
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22nd International Meeting of the Pediatric Colorectal Club 2015 |
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International Myotonic Dystrophy Consortium Meeting (IDMC) |
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Tourette Syndrome Congress 2015 |
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7th International Conference on Children’s Bone Health |
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The First Russian Congenital Aniridia Conference |
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10th European Cytogenetics Conference |
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10th International Conference: One Carbon Metabolism, vitamins B and Homocysteine |
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4th International RASopathies Symposium |
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Glycoproteinoses: Fourth International Conference on Advances in Pathogenesis and Therapy |
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SSIEM Official Satellite Symposia Second World Conference on Congenital Disorders of Glycosylation (CDG) |
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Tyrosinemia 2015 |
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The PANDAS 2015 Lake Como Conference |
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8 International Congress of Familial Mediterranean Fever and Systemic Autoinflammatory Diseases |
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First European Congress on Hereditary ATTR amyloidosis ECATTR |
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2nd International Primary Immunodeficiencies Congress (IPIC) |
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13th International Congress of Human Genetics (ICHG) 2016 |
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ESID European Society for Immunodeficiencies: Biennial meeting |
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Pharma Pricing and Market Access Congress 2015 |
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World Orphan Drug Congress USA 2015 |
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10th annual World Stem Cells & Regenerative Medicine Congress |
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Pan-Omics Summit |
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2nd Metabolomics - Advances & Applications in Human Disease Conference |
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World Orphan Drug Congress Asia 2015 |
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ORPHAN DRUGS SUMMIT 2015 |
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Media, Press & Publications |
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Introducing Genetically Speaking, a Joint Initiative of ASHG and ReachMD
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