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Predicting common disease risk
We are pleased to announce the availability of a new report that may be of interest to some readers; Predicting the risk of coronary heart disease with conventional, genetic and novel molecular biomarkers considers issues of how best to assess risk and use emerging genetic and molecular biomarkers, and forms part of wider work at the PHG Foundation looking at quality standards in disease risk prediction. Interestingly, although a new genome-wide association study has provided valuable insight into the underlying biology of type 2 diabetes, another study has shown that genetic risk factors do not improve current risk prediction models for the condition (19 January).
Genetic testing and screening
Pre-conceptual genetic testing and prenatal genetic diagnosis have been in the UK news this month; first with some rather questionable coverage on the use of PGD for less serious conditions (26 January) and more recently with the news that a preconceptual genetic test for over one hundred conditions is to be launched here (9 February). In the US, a recommendation has been made that forms of severe combined immunodeficiency (SCID) should join the standard panel of conditions for newborn screening (8 February), whilst in Australia new guidance on genetics and patient confidentiality has been released (25 January).
Research and databases
A report by the UK Academy of Medical Sciences calls for the Government to capitalise on the opportunities for medical research with a proportionate regulatory environment and improved coordination of research in different sectors (22 January). A new open access database is offering chemogenomic data to drive pharmaceutical research (7 February), and a new synthetic biology facility has launched with plans to develop and make freely available standardised DNA parts (14 February). A major new international consortium has been established to further understanding of genetic and environmental contributions to health and disease (5 February), whilst in the US a new projects seeks to determine the genetic origins of a range of paediatric cancers (1 February).
Genetics, stem cells and disease
In the literature this month, papers suggests that genetic information from prostate biopsies could be useful for prognosis (12 February); that epigenetic changes may be linked to heart failure (15 January); and that a genetic variant is linked with decreased risk of dementia (18 January). The proposal that rare genetic variants may play a major role in common diseases and particularly, that many associations with common genetic variants may be false, has generated some controversy (1 February). A new method for expanding numbers of cord blood stem cells shows promise for treatment of leukaemias and other diseases of the blood (22 January), whilst another paper reports on the use of rapid DNA sequencing to monitor the spread of MRSA strains (28 January).
New reviews and commentaries
Our selection of recent articles of interest (3 February)
Other recent news and research
Myotubular myopathy gene therapy trials in dogs
Pluripotent stem cells from Friedrich’s ataxia patients
Screening for spinal muscular atrophy not cost effective
Researchers find sex-specific lung cancer genes
DNA mini-circles induce stem cell pluripotency
Premature birth gene clue found
Morbidly obese 'may have missing genes'
Human genome's regulatory areas are mapped
Study opens new path to fighting leukemia relapse
NIGMS to expand human genetic cell repository
Synthetic molecules can activate genes
Mutating genes may lead to premature births
Scientists decode brain cancer cell line
deCODE genetics rises from the ashes
Gene for a new form of adult Muscular Dystrophy
Test 'predicts breast cancer resistance'
Genetics in the workplace: Implications for Occupational Safety and Health
Gene variation may speed recurrence of stomach cancer
Genetic subtypes of brain cancer
White House mulls plan to broaden access to published papers
Scientists find new leukemia gene risk factors
Consultation on ethical conduct for research involving humans
Hope for spine-fusing arthritis
Gene that controls heart beat discovered
Parental support for expanded newborn screening
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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