Monthly Archives: January 2016

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

5 Things New Parents of Kids With Skeletal Dysplasia Need to Know

logoA very moving, but also informative blog from Mary Henderson who’s young daughter has pseudoachondroplasia. 

Please read the full article here, but here are Mary’s thoughts:-


 

Here’s what I think all new parents of children with skeletal dysplasias should know:

1. Every accomplishment — down to the smallest thing like learning how to step up a curb without help — will mean the world to you. You will feel a pride many other parents are not lucky enough to know. You will take nothing for granted, and celebrate every success of your child. Your highs might be higher and lows lower than others. Hold onto those highs and keep them close to your heart.

2. You will find many along a similar journey and many to support you, but all our journeys are unique. You will learn how you want to handle your own situations and how to teach your own child. I am not comfortable referring to my daughter as a “little person,” though so many with a form of dwarfism are OK with it. I choose not to label my daughter in any way, and I respect those who choose to use that term or others. You choose your journey and respect other journeys.

3. Your child’s diagnosis and this new journey you are on will make you a better person; this I promise you. I could not even see far enough down my black tunnel a few years ago to understand this, but I am learning. I have a long way to go, but I do know that in a few quick years I am a stronger, more tolerant, understanding, compassionate, giving and kind person than I ever was. I have a hard time believing the “I was given this child for a reason” scenario, but sometimes I do have to wonder if there’s some truth to it.

4. You will become ultra sensitive to all discussions/comments regarding size, whether it’s about being very tall or very short. People say things — lots of thing without even thinking twice — and you have to take it with a grain of salt. I’d spend my days sad and angry and hurt if I let everyone’s comments (not even about my daughter) get to me. Yes, they do sometimes, especially if coming from people I care about, but I do my best to move on. Know that most people don’t mean anything by it and you likely wouldn’t have thought twice about commenting on size or growth if you weren’t in this boat. Speak up when you choose to — pick your battles.

5. Read and take comfort in the famous “Welcome to Holland” story by Emily Perl Kingsley. I know it saved me in my darkest hour many times. It’s something many people will never be privy to if they are not given a reason to read it. I cannot recall who exactly sent it to me, but I do know I’ve read it time and again, and it is very special and so true. It takes time to believe. You will have many moments where you wish you had the trip to Italy, but in time you will understand that Holland really is much better.

Please visit Mary’s site and help if you can.

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.