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OrphaNews Europe
: 7 February 2007 |
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Editorial
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The 1st European Network of Excellence for the development
of neuromuscular treatments is launched |
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Task Force Update |
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The RDTF state-of-the-art Report on Centres of Reference for
Rare diseases in Europe is now online |
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RDTF WG conclusions on European Reference Networks feature
in the High Level Group's 2006 Work Report |
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EU Policy News
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DG SANCO
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Rare Disease issues included in latest Call for Proposals
from DG SANCO: 2007 Work Plan Document for Opinion
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Updated Rare Disease web pages |
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Health in Europe : a Strategic Approach – Discussion
document for a Health strategy |
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DG Research
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DG Research has published its first FP7 Calls for proposals
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Call for Experts |
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National & International Policy Developments
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Other international news |
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NIH has launched a Licensing Opportunities website listing
for RD technologies |
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The US House of Representatives has adopted a draft law on
stem cells |
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Research in Action |
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New diseases & syndromes |
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Peripheral and Central Hypomyelination with
hypogonadotrophic hypogonadism and hypodontia: the 4H
syndrome |
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Mutations in the gene encoding 3-hydroxyisobutyryl-CoA
hydrolase results in progressive infantile neurodegeneration
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SCN9A gene mutations responsible for a congenital
inability to experience pain |
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Mutations in the SYNE1 gene responsible for a new
form of autosomal recessive cerebellar ataxia
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The gene encoding adipose triglyceride lipase is mutated in
neutral lipid storage disease with myopathy |
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Obesity, hypothyroidism, craniosynostosis, cardial
hypertrophy, colitis and intellectual deficiency: a new
syndrome |
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New genes
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Aplastic tibia and ectrodactylia : 2 loci identified in a
family from the UAE |
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Mitochondrial disorders of nuclear origin: two new genes
identified, EFG1 and EFTu |
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Kostmann disease: a misense mutation of the Hax-1
gene found in 3 families |
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Spastic paraplegia: KIAA0196 gene mutations
identified within the locus SPG8 |
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Nemaline myopathy: implication of the CFL2 gene,
encoding the actin-binding Cofilin-2 liaison protein
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Bardet-Biedl syndrome: BBS12 will enlarge the number of type
II chaperonins implicated in the disease |
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Joubert syndrome: MKS3, one of the genes at the
origin of the Meckel-Gruber syndrome Meckel-Gruber,
identified |
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Osteogenesis imperfecta: the loss of CRTAP, an enzyme
required for the post-translational modification of type I
collagene |
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Apolipoprotein L-I protects humans from infection by
trypanosoma evansi, a parasite affecting domestic
mammals
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Noonan syndrome: a gene of the RAS-MAPK pathway is
identified |
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Familial form of hypospadias: nucleotide variations in 4
developmental genes |
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New fundamental research |
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Long-lasting arrest of murine polycystic kidney disease with
CDK inhibitor roscovitine |
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XY Gonadal dysgenesis: a new functional domain in SRY
protein ? |
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Duplication of the Williams-Beuren locus: the importance of
genetic dosage in language development |
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Alpha-sarcoglycanopathy: phenotypic correction due to the
injection of a viral (rAAV) vector in a murine model
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Ataxia spinocerebellar type I: an increase in the native
function of ATAXIN-1 at the origin of the neuropathology.
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A new source of stem cells in amniotic fluid
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Long QT syndrome: distorsion of transmission and
predominance in women |
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Metachromatic leukodystrophy: glial cell progenitors could
be a source of enzyme in mice |
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Duchenne muscular dystrophy: progress and perspectives in
gene therapy |
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Left heart hypoplasia: a review of therapeutic approaches
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Cystic fibrosis: neonatal diagnostic improves the
development of the disease and reduces the therapeutic needs
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Fabry disease: the rate of myeloperoxidase predicts the risk
of vascular accidents in humans |
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New clinical research |
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New Clinical Trials registered by Orphanet |
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Call for patients: Meckel-Gruber Syndrome and Joubert
Syndrome |
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Li-Fraumeni syndrome: a susceptibility factor associated
with the MDM2 gene |
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Cystic fibrosis: a new fast and unambiguous genotyping
method |
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18p deletion: correlation between the genotype and the
phenotype by FISH comparative genomic hybridization
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Angelman syndrome: a new method for detecting
micro-deletions |
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The Universal Convention for Disabled Rights is adopted
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Neurofibromatosis type I: correlation between a
micro-deletion of the NF1 gene and the clinical signs
observed |
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Cerebral cavernomas: deletions of the MGC4607 gene are a
common cause of vascular malformation development
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Genetic testing
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EuroGentest has established draft guidelines for genetic
counselling in Europe |
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Orphanet News
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Orphanet celebrates its 10th Anniversary |
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Orphanet Reports Series |
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Orphanet Journal of Rare Diseases update |
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Orphan Drugs
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Launch of EudraPharm, a new European public medicines
database |
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A 100mg daily dose of Sprycel® has a better performance than
70mg in a twice- daily dose |
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Orphan Drug policy issues |
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The FDA proposes a regulatory overhaul to expand
availability of experimental drugs and clarify permissible
charges to patients
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New designations & authorisations in Europe
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Twelve new positive opinions for Orphan designations in
December 2006 & January 2007 |
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Elaprase is given European marketing authorisation
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New designations & authorisations in USA |
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US pharmaceutical regulators report a disappointing year for
FDA rare drug approvals |
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Ethical, Legal & Social Issues |
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Ethics
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New US legislation for Privacy, Confidentiality and
Identifiability in Genomic Research |
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A US position statement for genome data-sharing opens up a
debate in Europe |
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Social issues
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Courses & Educational Initiatives |
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Courses
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Practical Training in Rare Metabolic Diseases affecting the
Liver |
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Press & Publications |
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Privacy, Confidentiality and Identifiability in Genomic
Research |
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A White Paper for the revision of the UK Human Fertilisation
and Embryology Act |
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Europe in the world: a policy glossary. European partnership
for global health |
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Job Opportunities |
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Robert Debré Hospital in Paris is seeking a Professor-Head
of Department in pediatric neurology and metabolic
disease(s) |
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What's on where?
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In March
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Newborn Screening Update Day |
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In April
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14th International Symposium on Recent Advances in Stem Cell
Transplantation |
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1st European Symposium on Rare Anaemias |
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In May
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Human Genome Organization (HUGO)’s 12th Human Genome Meeting
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In June
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European Human Genetics Conference 2007 |
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In September
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World Congress on Huntington’s Disease |
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Rare Diseases Research: Building on Success - a European
Conference |
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In November
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4th European Conference on Rare Diseases (ECRD 2007)
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