Category Archives: EU project news

It’s the SYBIL mid-term review

SYBIL snowSystems biology for the functional validation of genetic determinants of skeletal diseases

keep-calm-its-only-mid-term-review

Looking forward to presenting all our excellent new data to the European Commission!

RUBICON Network

Rubicon Members

  • Marco Ponzetti (UNIVAQ)
  • Alfredo Cappariello (UNIVAQ)
  • Suvro Chatterjee (UNIVANNA)
  • Karl Kadler (UMAN)
  • Michael Briggs (UNEW)
  • Bram van der Eerden (ERASMUS)
  • Michael Baldwin (Engedi)
  • Nadia Rucci (UNIVAQ)
  • Anna Teti (UNIVAQ)
  • Malcolm Collins (UCT)
  • Peter Magnusson (REGION H)

Absent from photo:-

  • John Bateman and Shireen Lamande (Melbourne)
  • Danny Chan (Hong Kong)
  • Checco Ramirez (New York)

rubicon-logo-DEFINITIVO

Today is “Rubicon Day”………..

CæSAR_PAUSED_ON_THE_BANKS_OF_THE_RUBICON

Not the day 2065 years ago when Caesar paused on the banks of the River Rubicon with his Legio tertia decima Geminia (13th Twin) before moving on to Rome.

But the start of the RUBICON Project part of the Marie Skłodowska-Curie Research and Innovation Staff Exchange (RISE) and coordinated by Professor Anna Teti.rubicon-logo-DEFINITIVO

http://rubicon-network.org

“Training network for Research on molecUlar and Biomechanical Interactions in CONnective tissue disorders”, Grant No 690850 – Acronym: RUBICON.

Horizon 2020


“Kick off” meeting to be held in  “Domus Sessoriana”
domus-sessoriana-hotel

Proceedings of the Musculoskeletal Health in the 21st Century Workshop

workshop

Animal models and systems biology approaches for the functional validation of genetic determinants of skeletal diseasesMike Briggs Peter Bell

Peter A Bell, EU-FP7 SYBIL and Michael D Briggs

Rare skeletal diseases are a diverse group of diseases that primarily affect development of the skeleton. There are more than 450 unique phenotypes that, although individually rare, have an overall prevalence of at least 1 per 4,000 children. Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are skeletal diseases caused by missense mutations/deletions in the genes encoding important cartilage extracellular matrix proteins (ECM), and are characterized by disproportionate short stature, joint pain and early-onset osteoarthritis.

In-depth characterization of MED and PSACH mouse models has revealed that endoplasmic reticulum (ER) stress, reduced cell proliferation and abnormal ECM assembly are important pathological consequences of mutant protein expression. Ongoing work aims to consolidate data from other models of skeletal disorders using a systems biology approach as part of the EU FP7 SYBIL (Systems biology for the functional validation of genetic determinants of skeletal diseases) project, in order to gain a mechanistic understanding of disease processes and to deliver new and validated therapeutic targets.

Key to delivery of new targets and therapies is the identification of relevant disease biomarkers, which will allow the monitoring of responses to therapeutic interventions. This is particularly critical for skeletal diseases, for which biopsy material is not readily accessible. We have identified differences in the extractability of a number of ECM components from the cartilage of MED and PSACH mouse models, relative to controls. The differences in extractability of these proteins (which include FACIT collagens (types XII and XIV), tenascins (C and X), and fetuin A) may represent differences in the stability of these proteins within the cartilage ECM, which might potentially be exploited for use as biomarkers of disease progression. We are currently using biochemical and mass spectrometry analysis of easily obtained biological samples such as blood, urine and cell culture medium in order to identify and validate novel biomarkers for skeletal diseases.

Proteaosome, proteaosome, wherefore art though proteaosome…..

Pete has recently returned from a quick trip to Professor Massimo Coletta’s lab in Rome to investigate the pathological interplay between the proteasome and matrilin-3 mutations.

He was working with Diego Sbardella and Grazia Raffaella Tundo to help refine disease mechanisms in genetic skeletal dysplasias.

And many thanks to both.


So here we have a quick poem for that visit……..

Proteasome, proteasome, wherefore art though proteasome?

Study they expression and define thy function; for if thou wilt not degrade mutant matrilin-3, wilt though consider COMP?

Shall I over express thee or shall I knock thee down? tis but an experiment that I should do………..

[The alternative William Shakespeare]


Pete, Deigo, Grazia

Pete, Diego and GraziaHard at work

….and hard at work