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.
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.
US-based company FDNA have awarded the Manchester Centre for Genomic Medicine a Centers of Research Excellence grant, providing funding to next-generation phenotyping (NGP) research. It will also bring FDNA’s Face2Gene facial analysis technology to the centre, ushering in a new era of precision medicine.
Led by Prof Jill Clayton-Smith, Consultant Clinical Geneticist at Saint Mary’s Hospital and Honorary Professor in Medical Genetics at The University of Manchester, and Dr Sophia Douzgou, the Manchester Centre will use FDNA’s Face2Gene suite of applications for research and clinical evaluations of patients.
An international study led by Dr Siddharth Banka has identified a family of five new genetic diseases, which cause combinations of developmental delay, and problems with growth, heart, kidney and other organs. The study will be published in the American Journal of Human Genetics.
The diseases – coined by the team as histone lysine methylation disorders – are the result of abnormalities in master regulator genes, which are dedicated to regulating the processes that control DNA modifications and gene expression.
Dr Victor Faundes, a PhD student in Dr Banka’s lab, studied genetic variants in a group of master regulators called ‘histone lysine methylases and demethylases or KMTs and KDMs. He said
This is an important discovery because we already know that some drugs can control the activity of KMTs and KDMs and thus could be potential treatments for these conditions.
Further detailed studies are planned by Dr Banka to try to understand the biological link between the mutations and the the clinical problem.
You can read more about the disease discovery on the trust’s Research & Innovation website.