February 2015

24 February 2015

Life Sciences & Society

Our 10 March seminar on Big Data and personalised medicine by Dr Jeff Skopek (University of Cambridge Lecturer in Medical Law, Ethics, and Policy) is sold out but we are still accepting people on our reserve list. 
Life Sciences & Society Seminars

Opinion of the month

Head of Knowledge & Communications Dr Philippa Brice looks at the plans for US president Obama’s new Precision Medicine Initiative and asks whether other countries can learn from the integration of patient-driven connectivity to complement the collection of genomic, clinical and other data.

Policy and patients

Patient-centred care and empowerment are dominant topics this month as the Nuffield Council on Bioethics launches a report on ethical issues relating to biological and health big data and concludes that public buy-in is crucial for success. A patient’s charter for clinical genome sequencing was released by the Genetic Alliance UK and patients, funders and researchers celebrated a decisive UK government vote in favour of legal amendments to permit mitochondrial transfer (3-person IVF).

Protecting the people behind biomedical big data
Patients and genomics: dual drivers of health system change?
UK politicians vote in favour of mitochondrial transfer

Genomic medicine

The National Screening Committee is consulting on various conditions that could be included in newborn screening and on antenatal screening for Fragile X Syndrome. Key US medical groups have released new guidance on expanded pre-conception carrier screening, whilst the FDA has signalled relaxation of their stance against DTC medical genetic testing with approval of a 23andMe test for Bloom Syndrome.
Meanwhile the 100,000 Genomes Project announced a partnership for patient sample storage and clinicians have revealed that a mutation event resulted in the spontaneous cure of a rare genetic condition.

Consultations on screening for genetic disorders in the UK
Policy statement on preconception carrier screening
The shifting sands of direct-to-consumer genetic test regulation
Genomics England partners with National Biosample Centre
Miracle cure of genetic disorder by mutation event

Biomedical research and investment

Fresh financial investment in synthetic biology and stratified medicine have been announced as the UK continues efforts to capitalise on the biomedical industry. The exciting genome editing technique is put to a different use as global pharma firm AstraZeneca partners with eminent non-profit researchers to seek new drug targets, and the first results from the Human Protein Atlas are analysed.

Funding stream flows on for synthetic biology
Latest UK investment in stratified medicine
Sanger Institute & Astrazeneca partner on genome editing for drug discovery
Human protein map analysed

Infectious disease

Whilst the PHG Foundation team put the finishing touches to the epic Pathogen Genomics report and recommendations, England has made a pledge to eradicate tuberculosis and the EU has dedicated funds to a ‘One Health’ project to ensure that human and animal pathogen genomic surveillance are integrated for faster responsiveness. Internationally, news that the Ebola epidemic appears to be waning comes alongside warnings that the virus has mutated to a significant degree.

PHE and NHSE pledge to eliminate TB in England
€20 million EU project to integrate human & animal pathogen genomics
Genomic analysis reveals that Ebola virus is mutating

Genomics and disease

Highlights from research this month include the surprising finding that cerebral palsy may result from genetic mutations rather than a lack of oxygen to the developing brain. Genetic influences on BMI and body fat distribution are discussed along with links between regulatory elements and autoimmune diseases, and mutations associated with head and neck cancers.

Some cerebral palsy cases may have a genetic basis
New insights into autoimmune disease mechanisms
Weighty impact of new genetic fat map
New insights into molecular alterations of head and neck cancers