CMFT consultant to co-ordinate European network for rare diseases

Central Manchester University Hospitals NHS Foundation Trust staff marked Rare Disease Day 2017 with a number of activities within the Royal Manchester Children’s Hospital.

Staff from the clinical, laboratory and research teams within Manchester Centre For Genomic Medicine manned a stall to provide information to parents and fun activities about rare conditions ranging from making genetic code bracelets to actually being able to see and take home your own DNA.

Those participating included Professor Jill-Clayton Smith, Consultant Clinical Geneticist at CMFT, who, on Rare Disease Day was also named as the network co-ordinator for the European Reference Network (ERN) for congenital malformations and rare intellectual disability (ERN-ITHACA), to be led from CMFT.

Read more about Rare Disease Day 2017 on the CMFT website.

New syndrome which causes obesity and intellectual disability identified by scientists at the University of Manchester

Scientists at The University of Manchester have discovered a rare new genetic syndrome of obesity, over-eating, mental and behavioural problems in six families, from across the world.

Dr Siddharth Banka from the Manchester Centre for Genomic Medicine worked with Dr Eric Glasgow of the Georgetown University Medical Center in Washington D.C to study the consequences of chromosome 6 deletion.

The paper, Small 6q16.1 Deletions Encompassing Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability was published Jan. 28 in the American Journal of Human Genetics.

Find out more about the genetic syndrome on the ITV News website.

Video gives insight into the future of Cancer Prevention and Early Detection

Professor Gareth Evans, Cancer Prevention and Early Detection Lead, explains how our research will help to optimise screening and preventative strategies for common cancers, with a strong inherited component (breast cancer, colorectal cancer, endometrial cancer, ovarian cancer, prostate cancer and womb cancer).

This research is focused on helping to identify cancer risk sooner, match an individual to the preventive intervention (lifestyle changes and/or chemoprevention) most likely to work for them and, in some cases, may even help to prevent conditions progressing into cancer in the first place.

Research study testing new treatment for Sanfilippo disease progressing well

The study aims to establish whether Sanfilippo disease can be treated with a chemical found in soya beans.

Diagnosed in childhood, it is rare and fatal condition that affects around 150 children in the UK.

The study recruited 22 patients, with monitoring of the final patient due to finish in July. Results from the study will be published later this year.

You can read more about the new treatment for Sanfilippo disease on the CMFT Research & Innovation website.