July 2011

1 July 2011

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

See also the Genomics & Health Impact Update from the CDC Office of Public Health Genomics and the GenInfo Monthly Newsletter from HumGen.