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This month, we are delighted to announce that our work on inherited cardiac conditions has been recognised with an NHS Partnership Award – as well as continuing to provoke debate in the UK (11 November).
Biobanking and genetic databases
We report on several new and recent biobank initiatives and political tensions surrounding them in Europe and the US (6 November) along with a new document on ethics and governance in cancer biobanking, with potentially wider relevance (26 October). The UK government has backed down from controversial proposals for the national DNA database used by police (26 October), whilst a database of mutations is to be made internationally accessible to help clinical geneticists identify disease-associated variants (22 October). As the costs of whole genome sequencing continue to fall (9 November), new international standards for DNA database sequence quality have been released (27 October).
Policy, education and collaboration
We discuss a report on the impact of legislation and regulation surrounding the use of human tissue on research in the UK (29 October), and a new publication to promote public understanding of screening, including forms of genetic screening (3 November). Also in the UK, a new study has been launched to look at the use of animals and animal embryos containing human DNA or tissue (10 November). A new European initiative has been launched with the aim of driving the use of diagnostics for personalised medicine (4 November), whilst a network of researchers in melanoma genetics is expanding internationally (21 October).
Genomic research and therapeutics
A trial of gene therapy for inherited eye diseases has shown promising results in humans (30 October), and a potential new screening technique for identifying disease-associated mitochondrial mutations has been put forward (28 October). Genome-wide association studies have identified new variants associated with susceptibility to autism spectrum disorder (16 October) and variation in clinically relevant blood measurements (23 October). We also report on the first map of the human epigenome (19 October), the first three-dimensional map of the human genome (16 October), and the new horse genome sequence, which could reportedly aid research into human diseases (11 November).
New reviews and commentaries
Our selection of recent articles of interest (1 November)
Other recent news and research
Clinical tests begin on medication to correct Fragile X defect
Spinal muscular atrophy therapy possible
Genome analysis changes diagnosis
Steep rise in Down's pregnancies
Scientists discover link between older dads and genetic diseases
Multiple genes may play a role in causing lupus
New chromosomal abnormality identified in leukemia associated with Down Syndrome
Use of diagnostic archives for research
Mathematical tool links genes to Type 2 Diabetes
Family history of melanoma and Parkinson disease risk
Gene behind Gaucher Disease a player in Parkinson's
NIH updates data-sharing policy for genomic data
Discovery of new cancer gene
Gene data tool advances prospects for personalized medicine
Genetic testing guidelines for melanoma are developed
Canada researchers map tumor's genetic transformation
Stem cells being tested to fight pancreatic cancer
Human Fertilisation & Embryology Act 1990 consultation on disclosure of information
See also the Genomics & Health Weekly Update from the CDC Office of Public Health Genomics and the GenInfo Monthly Newsletter from HumGen.
For our events listing, go to http://www.phgfoundation.org/events
Full listing of new additions to our website at: http://www.phgfoundation.org/whats_new.php
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