Christmas dinner 2015
All posts by Katarzyna
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
Celebrating the Success
Our “Genetics Matters” event has been recognised by the University and we have been invited by the Vice-Chancellor to attend the “Celebrating Success Event”!
Trouble with Tribbles..
TRIB1 (Tribbles Pseudokinase 1) is a protein containing a serine/threonine kinase-like domain which is expressed in skeletal muscle, thyroid, pancreas, peripheral blood leukocytes, and bone marrow. Trib1 is critical for the differentiation of tissue-resident macrophages and in musculoskeletal tissues it is highly expressed in the bone marrow of adult humans. However, its role in skeletal tissues is currently unknown.
In collaboration with Prof Drew Rowan at Newcastle University, we have been analysing a mouse model which overexpresses Trib1 in cartilage (under col2 promoter).
We have found that mice overexpressing Trib1 in cartilage (right) are much smaller than the wild type litter mates (left) and present with a pronounced hip dysplasia. The bones appear dense, shorter and broader and are very reminiscent of osteopetrosis (“the stone bone” disease).
Jennifer Gerbracht, an Erasmus student in the lab, generated this bone density image (above) using bone mineral content quantification by Faxitron X-ray microradiography. The image was pseudocoloured, showing the densest material in red. The knee joint of a wild type mouse (left) is shown compared to a mutant mouse (right) with much higher bone density.
15th July 2015 A-level Open Day
On the 15th of July the IGM are hosting our regular IGM Open Day for the lower 6th form students from local schools.
Final programme for the day:
The event will include hands on experiments and a “bench to bedside” journey in mitochondrial genetics as well as a short presentation about studying at the University. Thank you very much to all participants and a big thank you to all the staff and students from IGM for taking time off to present their research and to the staff at the Centre for Life for their help with the practical sessions.
If you would like to participate in a similar event next year, please email IGMengagement@ncl.ac.uk
Mouse models in investigation of human genetic skeletal diseases – a review
The utility of mouse models to provide information regarding the pathomolecular mechanisms in human genetic skeletal diseases: The emerging role of endoplasmic reticulum stress.
Available as open access here
Or download a .pdf file here: ER stress review
A little “thank you” from project students..
..Leah and Ali.
Thank you guys, it was yum!
