Monthly Archives: December 2013

2013; the year in review

Whilst this is not quite the Queen’s ‘Christmas Speech’ or the ‘State of the Union’ we still had a very busy year

Queens Speech

2013 was our first full year at the IGM and may well prove to be a watershed; so here are 10 things that happened in the lab that even Her Majesty would be proud of :-

1. We’ve said hello to some new faces; Beth, Robert and Ella, but sadly bid farewell to Etta who has moved to an new position in Cardiff. Sarah has now finished her lab work in Manchester and is busy writing her Phd Thesis.

2. We also had our first IGM ‘project student’; Helen Mackie who wrote an excellent project report and overall she achieved an upper second class degree (2.i). So congratulations to Helen!

3. We have had several excellent manuscripts published this year (and several others are still under review) :-

  • Abnormal chondrocyte apoptosis in the cartilage growth plate is influenced by genetic background and deletion of CHOP in a targeted mouse model of pseudoachondroplasia in PLOS ONE.
  • Mild Myopathy Is Associated with COMP but Not MATN3 Mutations in Mouse Models of Genetic Skeletal Diseases. PLoS One. 2013 Nov 27;8(11):e82412.
  • A novel transgenic mouse model of growth plate dysplasia reveals that decreased chondrocyte proliferation due to chronic ER stress is a key factor in reduced bone growth. Dis Model Mech. 2013 Sep 12.
  • Armet/Manf and Creld2 are components of a specialized ER stress response provoked by inappropriate formation of disulphide bonds: implications for genetic skeletal diseases. Hum Mol Genet. 2013 Aug 23.
  • Analysis of the cartilage proteome from three different mouse models of genetic skeletal diseases reveals common and discrete disease signatures. Biol Open. 2013 Aug 15;2(8):802-11.

4. In addition, we have revised two GeneReviews™ articles :-

  • Multiple Epiphyseal Dysplasia, Dominant. Here.
  • Pseudoachondroplasia. Here.

5. In April we heard that SYBIL (Systems Biology for the Functional Validation of Genetic Determinants of Skeletal Diseases) had been favourably evaluated by the Commission services  and we proceeded to negotiations. SYBIL started in October.

6. We have had platform and/or poster presentations at the following Conferences or Workshops:-

  • ESCEO13-IOF Congress in Rome, Italy, April 17-20.
  • VI International Congress on Stress Proteins in Biology and Medicine in Sheffield, UK, August 18-22.
  • ISDS 11th Biennial Meeting in Bologna, Italy, August 28-31.
  • BSMB in Cardiff, UK, September 2-3.
  • “Lessons from Rare Diseases of Cartilage” in Liverpool, UK, October 16.
  • Pan Pacific Connective Tissue Societies Symposium in Hong Kong, China, November 24-27.

7. Pete was awarded a FEBS Fellowship in May to travel to Cologne and work with our good friends and colleagues  Frank and Raimund (below) on COMP and Tenascin interactions.


8. Thanks to Beth, Rob, Kasia and Pete the lab is now fully ‘up and running’ and we have received all of our genetic models from Manchester and re-established necessary technology and resources in IGM @Newcastle. It’s taken about 12 months in total, but we are there now!

9. Kasia organised and hosted a Newcastle_Manchester Research day that was a great success and we plan for an even bigger event with Cologne in 2014 (watch this space!).

10. Pete was awarded an ISMB travel bursary to present at the Pan Pacific Connective Tissue Societies Symposium in Hong Kong, China, November 24-27 (and therefore advertise the blog!).Pete Hong Kong

11.…………we celebrated all these achievements accordingly!


The 2014 SYBIL Calendar

Has now arrived………..


………….and we have it on good authority that Father Christmas is busy delivering them in time for the New Year.


And for all the Ontologists out there in skeletal world:-

Father Christmas =Pere Noel = Kerstman = Babbo Natale = Swiety Mikolaj = Sants Claus = Daidí na Nollag

(although I’m not sure he’s happy being called Sweaty Nicky)

PhD viva in Glasgow

Just returning from a PhD viva in Glasgow.

Dr Lydia Murray in Tom Van Agtmael’s Lab produced an excellent PhD Thesis entitled:-

“Dissecting the Mechanisms of Disease of COL4A1 and COL4A2 Mutations”

And she performed exceedingly well in the viva voce.

Some the Thesis was recently published in Human Molecular Genetics.


Lydia and Tom @Glasgow


We even enjoyed a pint in the Oxford Bar, although DI John Rebus wasn’t there

iPS for FOP


Sounds like a catchy song title…………..but it’s actually an interesting proof-of-principle study published this week in the Orphanet Journal of Rare Diseases, by Edward Hsiao and his colleagues at UCSF.

“Induced pluripotent stem cells from patients with human fibrodysplasia ossificans progressiva show increased mineralization and cartilage formation.”

Open Access article available here.

The authors have generated human induced pluripotent stem cells (iPS cells) from both normal and Fibrodysplasia Ossificans Progressiva (FOP) patient fibroblasts. These iPS cells were then induced to a chondrocyte-like phenotype for disease mechanism studies.

The authors conclude that this study provides a proof-of-concept for using human iPS cell models to understand human skeletal disorders.

Moreover, they conclude that:-

“Human iPS cells will be a valuable tool that reflects the diversity of patients we see in the clinic since patients, and thus, their iPS cells show clinical variability, genetic background effects, and epigenetic influences……….combined with translational genetic studies and correlations with murine models, provides exciting venues for new strategies to understand the stages of normal and pathologic human skeletal development.”


read on………………


One important task of EU_FP7 SYBIL is to exploit new biological resources and technologies to generate iPS cell lines from rare disease patients and differentiate them into skeletal-relevant cell lines.

More specifically, in Work Package 2 human iPS cells will be generated from patient cells such as dermal fibroblasts, blood cells or urine derived cells. SYBIL partners University of ManchesterInstitute of Genetic and Biomedical Research and Evercyte will be taking a leading role in this exciting and cutting edge translational research.