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Birth defects
The major event of this month has been the launch of Born Healthy, a new international community for all those keen to see action against birth defects; the community also provides free access to the PHG Foundation’s innovative new health needs assessment toolkit for congenital disorders in low and middle-income countries (30 June).
In other news, smoking has been associated with an increased risk of specific birth defects in the UK (13 July); the US March of Dimes has called for the fortification of corn flour to reduce rates of neural tube defects among Hispanic communities (20 June); and research has shown that antenatal syphilis screening reduces newborn deaths and birth defects (23 June).
Policy developments
A new partnership between Sequenom and Illumina may hold promise for commercial non-invasive prenatal testing for Down’s Syndrome (12 July), but plans for genetic testing of asylum seekers to evaluate nationality have been firmly dropped (1 July). New guidance on the use of genetic testing for cardiac conditions has been released in Europe (4 July). In the US, legal battles over funding for embryonic stem cell research rage on (5 July) and views are sought on the priorities for public health genomics (13 July).
Genetic therapeutics
A novel form of RNA editing has been shown to suppress nonsense mutations, raising the possibility of future therapeutic use (18 June), and a new type of targeted gene therapy called genome editing has been used to correct haemophilia in mice (1 July). Promising results have also been seen with a mutation targeting drug for cystic fibrosis (28 June), cancer immunotherapy (21 June) and non-invasive genetic screening for IVF (12 July).
Genetics and disease
Mapping of ovarian cancer genomes has revealed molecular sub-types of the disease (6 July), a distinguishing genetic variant has been linked to a specific form of leukaemia (16 June), and a 23andMe study has found new genetic locations linked to Parkinson’s disease risk (7 July). A new theory based on genetic findings that could explain why autism is less common among girls has also been published (15 June).
Research projects
Scientists are working to create a ‘brain bank’ created from stem cells of Parkinson’s disease patients (18 June), a major library of genetic knock-out mice for research (27 June), and to sequence the genomes of 5,000 insects important for human health and agriculture (21 June).
New reviews and commentaries
Our selection of interesting recent articles (3 July)
Other recent news and research
Potential new biomarker for neurofibromatosis 1
First synthetic organ transplant
Stem cell hope for heart patients
E. coli in German outbreak has gene profile that may explain severity
Stem-cell scientists grapple with clinics
Men wanted as stem cell donors
Gene therapy for heart failure
Three major biology funders launch new open access journal
Loss of epigenetic regulation in cancer genomes
Promising drug for Parkinson’s disease targets gene
Protein helps predict Alzheimer’s risk
Lean gene linked to heart risk
Doctors offer unapproved stem cell therapies
The ghost of personalized medicine
Genetic susceptibility to melanoma
What's the future of synthetic biology?
Genome study solves twins' mystery illness
Peer review must stay as guarantee of quality
Researchers find variable germline mutation rates in humans
Mutations associated with cancer risk for hereditary cancer syndrome
Scientists find genes linked to migraines
See also the Genomics & Health Impact 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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