Manchester researchers discover BRCA1-linked mechanism
A new mechanism which switches off a gene in families affected by breast and ovarian cancer was been identifier through research co-led by Professors Gareth Evans and Bill Newman and Dr Miriam Smith from the Manchester Centre for Genomic Medicine and The University of Manchester. Known as epigenetic silencing, the research has been published in the American Journal of Human Genetics today. The research was funded by Prevent Breast Cancer and the NIHR.
Rebekah, 26 from Manchester, has a family history of early on-set breast cancer and is from one of the two families where this new variation has been identified. She said:
With such a strong family history of breast cancer, I was always aware that I might be at higher risk. When my mum was told she didn’t carry the BRCA mutation but did have this new genetic change, I decided I needed to know my risk too. Knowledge is power, so I wanted to be on the front foot and have a clear understanding of my own risk of getting breast cancer.
Thankfully, I tested as negative which means that I don’t have a raised risk. Knowing this has changed my outlook; I’m not going to be spending my life worrying about getting cancer – and any kids I later have won’t be at higher risk, either.
Rebekah, from Manchester
Read more about the discovery of the epigenetic silencing mechnanism Manchester BRC website.
Manchester to lead development of UK’s first rapid genetic test
Manchester is leading the development of a new genetic test that could identify the risk of, and therefore help to avoid, permanent antibiotic-related hearing loss in newborn babies.
Some babies can develop irreversible hearing loss when exposed to gentamicin – a commonly used antibiotic – due to an identified genetic predisposition. Antibiotic treatment should to be started within the first hour after admission, but currently there are no suitable tests to identify those at risk of hearing loss within this timeframe. It’s hoped that the new test could allow genetic results to be available within an hour, and be performed at the patient’s bedside.
Professor Bill Newman will lead the consortium, which will work closely with parents of children previously treated on intensive care units.
We look forward to working with our colleagues in Manchester and Liverpool to assess the impact of rapid genetic testing as a method of avoiding irreversible hearing loss in babies treated with antibiotics. Successful implementation would be a first in the integration of a rapid decision making, genetic-based diagnostic in the UK NHS.
— Professor Bill Newman
Further detailare available from a news article on the Manchester Biomedical Research Centre website.
Manchester-led dysmorphology course a success
The 9th “Dysmorphology in the Genomics Era” course, held in Manchester at the Nowgen Centre, was a resounding success. Already a leading centre for clinical genomics in Europe, MCGM demonstrated the increasingly global reach, with attendees coming from the USA, Saudi Arabia, India, Malaysia, Palestine, and Argentina. The faculty was almost all Manchester-based from the University of Manchester, and MCGM. 14 scholarships were awarded from the European Society of Human Genetics (ESHG) and the European Reference Network, ERN-Ithaca.
The course organisers were Professor Dian Donnai, Dr Sid Banka, Dr Sofia Douzgou, and Professor Jill Clayton-Smith.
Read more about the course on the Research & Innovation website.
Genetic test could give women a more accurate breast cancer risk
New research led by Professor Gareth Evans, Consultant in Medical Genetics and Cancer Epidemiology at Saint Mary’s Hospital, has published findings in the JAMA Oncology Journal on the effectiveness of a genetic test; SNP18, as a more accurate predictor of breast cancer.
Researchers found that when the SNP18 genetic test, combined with mammograms and risk assessment questionnaire, provides a more accurate risk analysis and can accurately identify women who may benefit most from preventive therapy of additional screening.
Read more about the genetic test on the Trust’s Research & Innovation website.