Full meeting programme here: BSMB-Spring-2016-1
Thais presenting a poster:
Join hands to make the voice of rare diseases heard (Rare Disease Day 2016)!
A show of hands from the Institute of Genetic Medicine today, to raise awareness of the international Rare Disease Day and the importance of rare disease research.
The image was shared via Twitter and email with the larger community today.
1 in 17 people in the EU is affected by a rare condition. That’s 3.5 million people in the UK alone! Although individually rare, together the rare conditions affect more people than cancer and AIDS combined.
Let’s all unite to make the rare disease voice heard!
Genetics Matters event a success!
On the 27th of February 2016 the IGM held their popular “Genetics Matters” event at the International Centre for Life, as part of the international Rare Disease Day. The day was a huge success and included presentations form the leading Newcastle University scientists and patient organisations as well as meet the scientist tables, giving the participants a chance to chat about rare diseases and hear about the exciting state of the art research at Newcastle University.
We would like to thank all the participants, presenters and patient group representatives for making this event so informative and enjoyable. Together we will make the voice of rare diseases heard!
For more information and photos from the event please visit: https://blogs.ncl.ac.uk/igmengagement/27th-february-2016-genetics-matters/
IGM Public Engagement Calendars are here!
Download it here: IGM calendar
27th February 2016 – Genetics Matters!
We are pleased to announce we’ll be hosting our popular Genetics Matters event again on the 27th of February 2016 as part of the International Rare Disease Day. Come meet the scientists, touch real specimens, chat about rare diseases and hear about the exciting state of the art research at Newcastle University.
“Genetics Matters” annual event serves to showcase genetic research and to give the patient and charity organisations a voice and a platform to interact with the members of general public. The theme of the Rare Disease Day in 2016 is “Patient Voice”, recognising the crucial role that patients play in research by voicing their needs and instigating change.
We would like patients or members of patient families to be present on the day and actively participate, sharing the presenting with our scientists. We believe that the patients’ voice is important in directing the course of scientific research and that it is important to remember that behind the tubes and microscope slides there is also a human story, and that we are all working towards a common goal.
This event is FREE to attend, but we have limited places available, so if you would like to attend, please book your place here:
Christmas dinner 2015
Lab Hadrian’s Wall walk
Study Day 4 of the GNM8000 Introduction to Genomics
We are teaching at the GNM8000/GNM8001 Introduction to genomics course, part of the prestigeous Genomic Medicine MSc, PGDip, PGCert course at the Institute of Genetic Medicine developed in coollaboraiton with Health Education England (HEE) and Genomics England Ltd (GeL). This course aims to train healthcare professionals in how to integrate genomic technology into patient care.
and here’s the programme:
New therapeutic targets in rare genetic skeletal diseases – an Expert Opinion review
Abstract
Introduction: Genetic skeletal diseases (GSDs) are a diverse and complex group of rare genetic conditions that affect the development and homeostasis of the skeleton. Although individually rare, as a group of related diseases, GSDs have an overall prevalence of at least 1 per 4,000 children. There are currently very few specific therapeutic interventions to prevent, halt or modify skeletal disease progression and therefore the generation of new and effective treatments requires novel and innovative research that can identify tractable therapeutic targets and biomarkers of these diseases.
Areas covered: Remarkable progress has been made in identifying the genetic basis of the majority of GSDs and in developing relevant model systems that have delivered new knowledge on disease mechanisms and are now starting to identify novel therapeutic targets. This review will provide an overview of disease mechanisms that are shared amongst groups of different GSDs and describe potential therapeutic approaches that are under investigation.
Expert opinion: The extensive clinical variability and genetic heterogeneity of GSDs renders this broad group of rare diseases a bench to bedside challenge. However, the evolving hypothesis that clinically different diseases might share common disease mechanisms is a powerful concept that will generate critical mass for the identification and validation of novel therapeutic targets and biomarkers.
Full text available from Journal website here
Or download a .pdf file here: review
It’s not all about science! Lab trip to Open’er festival
