Fwd: Orphanews Europe 16 November 2011

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José Antonio Navarro

Nov 16, 2011, 9:42:17 AM11/16/11

Os reenvío el último boletín Orphanews Europe por si os resultara de interés. Recordar que sólo se distribuye en inglés.

Saludos a todos.

---------- Forwarded message ----------
From: <orphanew...@orpha.net>
Date: 2011/11/16
Subject: Orphanews Europe 16 November 2011
To: jana...@yahoo.es

OrphaNews Europe : 16 November 2011
Recommendations for Centres of Expertise adopted unanimously by the European Union Committee of Experts on Rare Diseases

Spotlight on...
NIMBL ... Investigating the genetic and cellular basis of Nuclease Immune Mediated Brain and Lupus-like conditions

EU Policy News
Clinical Trials Directive again comes under fire from research organisations urging reform
Mid-Term Evaluation of the EU Health Strategy 2008-2013 final report encompasses rare diseases in its scope
DG Research
E-Rare announces projects selected for funding from 2011 Joint Transnational Call in its first newsletter
Database of clinical studies involving children available via the EMA

National & International Policy Developments
Final report of the Recommendations and Proposed Measures for a Belgian Plan for Rare Diseases submitted to the Health Ministry
UK health services to provide assessments for off-label medicinal use
Switzerland moves forward project to develop national strategy for reimbursing rare disease medicinal products
Other International News
Human genetics congress provides venue to discuss technology advances and impact on rare disease patients and caregivers

Orphanet News
New rare disease emergency guidelines in French and Portuguese

New Syndromes
Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions
Microtriplications of 11q24.1 are responsible for a highly recognisable phenotype
Leber congenital amaurosis as first sign of a syndrome in the peroxisome biogenesis disorder spectrum with PEX1 mutation(s)

New Genes
Choroideremia: a dominant mutation in RPE65 can cause the disease
Knobloch syndrome: ADAMTS18 proposed as a second KS gene
Kearns-Sayre syndrome: RRM2B mutations found in one adult patient
Leber congenital amaurosis: ALMS1, CNGA3, and MYO7A are three novel disease causing genes
Methylmalonic acidemia-homocystinuria: inborn error of folate metabolism due to MTHFD1 mutations at cause in an infant
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency: two families have mutations in TRMU
Fatal infantile hypertrophic cardiomyopathy: mutations in NDUFAF1 (a mitochondrial complex I assembly factor) found in one case
Nonsyndromic mitochondrial sensorineural deafness: a mutation in mitochondrial tRNA His gene causes late-onset disease
Familial isolated clubfoot: PITX1 haploinsufficiency responsible over three generations in a family
Monocytopenia with susceptibility to infections: the syndrome is the result of GATA2 mutations
Adrenocortical tumours: somatic alterations of AXIN2 identified in some patients

Research in Action
Fundamental Research
Mucopolysaccharidosis type IIIB: induced pluripotent stem cells generated from young patient fibroblasts as a model
Severe laminopathy diseases: mechanism and prevention of accumulation of unrepairable DNA damage in cultured fibroblasts
Huntington disease: novel mechanism of Hsp70 chaperone-mediated prevention of polyglutamine aggregates in a cellular model
Neurofibromatosis type 1: mice lacking Nf1 in osteochondroprogenitor cells display skeletal dysplasia similar to patients
Holoprosencephaly: Noggin null allele mice exhibit a microform of the disease
LGMD2H: common missense mutation D489N in TRIM32 leads to loss of the mutated protein in knock-in mice
Clinical Research
Idiopathic pulmonary fibrosis: efficacy of a tyrosine kinase inhibitor in a phase 2 trial
Beta-thalassaemia intermedia: favorable changes with decitabine in a pilot study
Haemophilia B: enhanced pharmacokinetic properties of a glycoPEGylated recombinant factor IX in a first human dose trial
Persistent hyperinsulinaemic hypoglycaemia of infancy: lanreotide acetate may improve quality of life
ACTH-dependent Cushing syndrome: mitotane, metyrapone, and ketoconazole combination as an alternative to rescue adrenalectomy
Genetic skeletal disorders: 2010 revision of the Nosology and Classification
Adenosine deaminase deficiency: myeloid dysplasia and bone marrow hypocellularity are associated with the disease
Congenitally uncorrected transposition of the great arteries: neuropsychological assessment and brain imaging of adolescents
Congenital hypothyroidism: memory weakness may be linked to compromised hippocampal development in children and adolescents
Gene Therapy
Autosomal recessive dystrophic epidermolysis bullosa: proof of principle for ex vivo gene therapy in dogs
Duchenne muscular dystrophy: improvement of cardiac fibrosis in dystrophic mice by rAAV9-mediated microdystrophin transduction
Therapeutic Approaches
Spinal muscular atrophy: inter- and intra-patient variability in cell response to drugs that upregulate SMN expression
Epidermolytic epidermolysis bullosa: therapeutic perspectives with specific siRNA and chemical chaperones

Patient Management and Therapy
Turner syndrome: standardised multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women
Idiopathic pulmonary fibrosis: international evidence-based guidelines for diagnosis and management
Three new Clinical Utility Gene Cards available

Orphan Drugs
12 positive opinions recommending orphan designation at the October COMP meeting including a first for Leigh syndrome
What is the impact of orphan drugs on premature mortality?
New thalassaemia product approved in the USA and increased warnings for renal cell carcinoma product

Applications for rare pulmonary disease award to open soon

Courses & Educational Initiatives
ESH-ENERCA Training Course: Diagnosis and Management of Very Rare Anaemias
European Cytogeneticists Association Course
Tenth European Course on the Evaluation of Medicinal Products in Children
Goldrain Courses in Clinical Cytogenetics and Prenatal Genetic Diagnosis
Master of Science in Haemoglobinopathy
Orphan Academy 2012 Programme
EuroGentest Quality Management and Accreditation/Certification of Genetic Testing Workshops

What's on Where?
Sixth European Workshop on Immune-Mediated Inflammatory Diseases
6th Eastern European Conference for Rare Diseases and Orphan Drugs
Sanfilippo Foundation Switzerland International Congress
2nd Annual Optimising Orphan Drug Development Conference
Rare Cancers Conference: Improving the Methodology of Clinical Research
VII International Conference on Rare Diseases and Orphan Drugs (ICORD 2012)
International Congress on Research of Rare and Orphan Diseases
Second ASID Congress of the African Society for Immunodeficiencies
13th International Conference on Neuronal Ceroid Lipofuscinosis and 1st Worldwide Meeting of Batten Disease Int'l Alliance
Fourth International Meeting on Primary Central Hypoventilation Syndromes
CILIA 2012 - Cilia in Development and Disease
6th European Conference on Rare Diseases & Orphan Products
European Human Genetics Conference 2012
First International Symposium on the Ehlers-Danlos Syndrome
3rd Pan-European Conference on Haemglobinopathies and Rare Anaemias: Towards the Future

Press & Publications
Faith and hope: one man’s response to a fatal rare disease

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