International research grant awarded to Manchester Centre for Genomic Medicine
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.
Read more about MCGM’s research grant on the Trust’s Research & Innovation website
Disease discoveries unlock door to diagnosis and new treatments
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.
MCGM part of groundbreaking Huntington’s trial
Manchester University NHS Foundation Trust was one of nine centres involved in the successful trial of the first drug targeting the cause of Huntington’s disease.
The study was led locally by Dr David Craufurd, Consultant in Neuropsychiatric Genetics at the Manchester Centre for Genomic Medicine, Saint Mary’s Hospital. Study visits took place at the NIHR Manchester Clinical Research Facility, which is a safe and quality assured environment for delivering high-quality early phase research.
Of the trial, Dr.Craufurd said:
We were thrilled to be one of the nine study centres, which meant we were able to give our patients the opportunity to take part in this ground-breaking research. The results are very promising and we hope it will lead on to further developments in finding a successful treatment.
The results of the trial and plans for the ongoing IONIS-HTTRx programme will be presented in detail at forthcoming scientific meetings and prepared for peer-reviewed publication.
Read more about this groundbreaking study in to the treatment of Huntington’s Disease on the MFT Research & Innovation website.
Disease caused by reduction of most abundant cellular protein identified
Dr Siddharth Banka has led an international team of scientists and doctors to identify a new disease that results in low levels of a common protein found inside our cells. The study was published in the reputed American Journal of Human Genetics.
β-actin is the cell’s most abundant protein, providing shape and allowing them to move. It is fundamental to a number of biological functions. The team say the new disease is caused by gene mutations which result in half of the normal β-actin levels.
Dr Sara Cuvertino, a Research Associate at The University of Manchester and first author of the paper, said:
β-actin is so vital to our cells that it was very surprising for me that patients could still survive on just half the normal levels of this critical protein.
Read more about the study into this rare genetic disease on the MFT Research & Innovation Website.