House of Lords Debate Applauds ‘Excellent Work’ of Genetics Team
News Jan 16, 2015
A debate in the House of Lords this week applauded ‘the excellent work carried out’ at Central Manchester University Hospitals NHS Foundation Trust and Guy’s and St Thomas’ to improve the service for patients suffering from the genetic condition neurofibromatosis type 1 (NF1).
The debate highlighted that whilst centres, such as the one based at Saint Mary’s Hospital, Manchester, are running excellent clinical services, there is a national shortage of specialist clinics to work with patients, their families and health professionals to improve their care, and made an appeal to Government to improve the diagnosis and treatment of NF1.
The Manchester Centre for Genomic Medicine, based at Saint Mary’s Hospital, is currently one of two centres that lead the national response for NF1 in England.
Dr Sue Huson, Consultant Clinical Geneticist for the Neurofibromatosis Service at Manchester Centre for Genomic Medicine said:
“The NF1 service we run in Manchester continues to successfully manage our NF1 patients with very complex disease.
“Our service ensures that a diagnosis is made as early as possible, improves learning outcomes for children with NF1, and significantly improves their capacity to work as adults.
“We continue to develop the service and raise awareness of this relatively unknown condition, to improve outcomes for the 11,000+ people in England living with NF1.”
NF1 affects one person in every 2,500; therefore it is more common than Cystic Fibrosis and Muscular Dystrophy, but unlike these conditions, NF1 does not have the same high profile amongst the general population. The condition mainly affects the nervous system and the skin. Neurofibroma (benign tumours) can form on nerve coverings on or under the skin and can cause disfigurement.
Most people with NF1 experience skin changes and do not suffer from further health problems. However, some NF1 patients can have major health problems. These can include benign and malignant nerve tumours, abnormalities of bone, learning difficulties and some particular kinds of brain tumour. This can involve having to see a number of different specialists including Geneticists, Neurologists, Neurosurgeons, Plastic Surgeons and Ophthalmic (Eye) Surgeons.
Analytical Tool Predicts Disease-Causing GenesNews
Predicting genes that can cause disease due to the production of truncated or altered proteins that take on a new or different function, rather than those that lose their function, is now possible thanks to an international team of researchers that has developed a new analytical tool to effectively and efficiently predict such candidate genes.
Single Gene Change in Gut Bacteria Alters Host MetabolismNews
Scientists have found that deleting a single gene in a particular strain of gut bacteria causes changes in metabolism and reduced weight gain in mice. The research provides an important step towards understanding how the microbiome – the bacteria that live in our body – affects metabolism.READ MORE
Gotta Sample 'Em All! Underwater Pokéball Captures Ocean LifeNews
A new device developed by Wyss Institute reseachers safely traps delicate sea creatures inside a folding polyhedral enclosure and lets them go without harm using a novel, origami-inspired design. The ultimate aim is to allow the sea creatures to be (gently) analyzed in high detail.READ MORE
International Conference on Neurooncology and Neurosurgery
Sep 17 - Sep 18, 2018