ECTS Newsletter | February 2020
Your monthly news & updates
ECTS Announcements and Events  
  • ECTS 2020:  pre-congress and congress early registration deadline 23 March 2020Register here. 
  • ECTS 2020: New Data Abstract submission - 21 February - 6 March 2020 (Link available by 21 February 2020 here).
  • B ecome an active ECTS member, part of a dynamic community -  Join or renew your membership now
  • ECTS Webinar:  Inflammation & Bone 18 February 2020 3.30 pm CET  by Georg Schett  Register here  
  • ECTS PhD Training Course, jointly organized with GEMSTONE COST-Action, 23-26 June 2020, Edinburgh, UK -Programme & Registrations
  • ECTS-ICCBH Workshop on Rare Bone Diseases - Genetic defects in mineral and matrix homeostasis from infancy to adulthood, 15 May 2020, Marseille, France -More information -Followed by a Rare Bone Diseases Working Group and ERN-BOND Workshop.
  • ECTS - ERA EDTA CKD-MBD WG Workshop on Chronic Kidney Disease - Mineral and Bone Disorder, 15 May 2020, Marseille, France - More information

  • ECTS Webinars : 2020 calendar now available - Check it out


Other Announcements and Events
  • 1st International Meeting on Endocrine-related OsteoPorosis (EOP), Catania, Italy, 13-14 March 2020 - More information
  • Inaugural International Sarcopenia Translational Research Conference (ISTRC), Newcastle Upon Tyne, UK, 11-12 June 2020 - More information  
  • ICCBH Bone School: Educational Course on Paediatric Bone Disorders and Rare Bone Diseases 29 June - 1 July 2020 - More information 
  • 14th International Conference on Osteogenesis Imperfecta (OI2020) - abstract submission and registration now open, Sheffield, UK, 5-8 September 2020 - More information
ECTS 2020 Allied Health Professionals (AHP) Programme 
By Margaret Paggiosi

ECTS 2020 (16-19 May 2020 with a pre-congress day on 15 May 2020) is fast approaching! This year, conference delegates will travel to the cosmopolitan city of Marseille, France for the 47th annual congress of the European Calcified Tissue Society.

The congress brings together world-renowned experts, researchers, clinicians and Allied Health Professionals (AHPs) to create an influential forum for knowledge exchange. Delegates will have the opportunity to discuss the latest advances in musculoskeletal research and state-of-the-art clinical care of patients with calcified tissue and related disorders.

The World Health Organization (WHO) has designated 2020 as the "Year of the Nurse and Midwife" in honour of the 200th birth anniversary of Florence Nightingale. To celebrate this occasion, the ECTS2020 congress will include, for the first time, a dedicated AHP Programme.
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Rare Disease Day on 29th February 2020: insights into "Osteopetrosis" 
intro by Antonio Maurizi.

The 29th of February the Rare Disease Day will be celebrated. This year, the ECTS  dedicate a newsletter section to this important topic, highlighting the rare bone disease osteopetrosis and  providing the reader with a personal/patient organization perspective, a clinical perspective. Features of a recently described mouse model of osteopetrosis will also be presented in the News from the World section .
 
The patient organization perspective is provided by Patrick Birdsall, the president The OsteoPETrosis Society (OPETS), who was also married to a beloved lady affected by osteopetrosis for 26 years. The clinician's perspective is presented by Professor Ansgar Schulz and Doctor Despina Moshous, who work on osteopetrosis since many years. The article describing the new mouse osteopetrosis model is intoduced by our Editor-in-Chief, Prof. Teun de Vries, who is also and expert of osteoclasts, the cells primarily implicated in this disease.

A Story of Hope (Our story of life with OsteoPETrosis) 
by Patrick Birdsall.

In memory of happy times together  James Henry Sawyer, died Tuesday April 19, 2011 at 44 and Elspeth Sawyer Birdsall, died Thursday, May 28, 2015 at 53.

Our story began nearly 60 years ago. 
I now believe that given enough time that any child, has the potential to change the world in some way for the better. For the most part this is the continuing story of the child that changed the world for me, and for those touched by her beautiful energy.
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Osteopetrosis: a clinical perspective
by Ansgar Schulz and Despina Mohous 

Osteopetrosis (OP) encompasses a heterogenous group of rare monogenetic bone diseases with the common features of reduced osteoclast activity, increased bone mass and high bone fragility. The spectrum of clinical presentations is large, ranging from asymptomatic benign courses and intermediate forms to infantile, malignant OP with high lethality in early childhood. Since Hematopoietic stem cell transplantation (HSCT) is a curative treatment option for most of severe OP forms, the awareness of this rare disease is increasingly important.

The most common form with a prevalence of 1:20,000 is the autosomal dominant Albers-Schönberg disease (ADO). This disease is causes by monoallelic mutations in the CLCN7 gene. Most of the other forms show an autosomal recessive inheritance (ARO). 
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Basic research on osteopetrosis: towards bridging mouse and human osteopetrosis: a new, chimeric mouse osteopetrosis model. 
Intro by  Teun de Vries

In this third article on osteopetrosis in this issue of the ECTS Newsletter, I would like to introduce a new study by E. Palagano et al., which appeared in the January 2020 issue of Bone Reports. When introducing osteoclasts and osteoclast biology to students, one of the most appealing scientific discoveries to me has always been the observation that osteoclasts are derived from hematopoietic stem cells. Until the 1980, this was unknown, but now, because of this knowledge, osteopetrosis patients with defective osteoclasts can receive lifesaving hematopoietic stem cell transplantations.

 

Mouse models for osteopetrosis have been available for some time, even with a TCIRG mutation that also caused the majority of human osteopetrosis. These oc/oc mice can be cured with a hematopoietic stem cell transplantation, restoring osteoclast function and because of this, tooth eruption, opening of bone marrow cavities, migration of hematopoietic cells to the bone marrow environment and finally skeletal growth. In order to study all immunological aspects of osteopetrosis, a new mouse model, devoid of most immune cells but with the typical TCIRG mutation characteristic of most of the human osteopetrosis was made. Mice without TCIRG, the oc/oc mice, typically die without erupted teeth and osteopetrotic bones around 25 days. The new mouse model, with the immunodeficiency, was shown to be rescued with normal mouse progenitors. To a limited extent, human hematopoietic cells could survive, but they were not able to rescue the phenotype. As discussed by the authors,  it could be that mouse M-CSF may not activate human osteoclast precursor cells efficiently. Refining of the model therefore is required, likely by crossing these mice with mice that express the human M-CSF trans genetically. 

Read more
ECTS Announcements and Events  
  • ECTS 2020: pre-congress and congress early registration deadline 23 March 2020Register here. 
  • ECTS 2020: New Data Abstract submission - 21 February - 6 March 2020 (Link available by 21 February 2020 here).
  • Become an active ECTS member, part of a dynamic community - Join or renew your membership now
  • ECTS Webinar: Inflammation & Bone18 February 2020 3.30 pm CET by Georg Schett Register here 
  • ECTS PhD Training Course, jointly organized with GEMSTONE COST-Action, 23-26 June 2020, Edinburgh, UK -Programme & Registrations
  • ECTS-ICCBH Workshop on Rare Bone Diseases - Genetic defects in mineral and matrix homeostasis from infancy to adulthood, 15 May 2020, Marseille, France -More information -Followed by a Rare Bone Diseases Working Group and ERN-BOND Workshop.
  • ECTS - ERA EDTA CKD-MBD WG Workshop on Chronic Kidney Disease - Mineral and Bone Disorder , 15 May 2020,  Marseille, France - More information
  • ECTS Webinars : 2020 calendar now available -  Check it out
Other Announcements and Events
  • 1st International Meeting on Endocrine-related OsteoPorosis (EOP), Catania, Italy, 13-14 March 2020 - More information
  • Inaugural International Sarcopenia Translational Research Conference (ISTRC), Newcastle Upon Tyne, UK, 11-12 June 2020 - More information  
  • ICCBH Bone School: Educational Course on Paediatric Bone Disorders and Rare Bone Diseases 29 June - 1 July 2020 - More information 
  • 14th International Conference on Osteogenesis Imperfecta (OI2020) - abstract submission and registration now open, Sheffield, UK, 5-8 September 2020 - More information
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ECTS is thankful to its Corporate Members and other companies that have supported ECTS activities through unrestricted educational grants. These sponsors have in no way contributed to or influenced the content.
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Editor in chief: Teun De Vries (Amsterdam, The Netherlands)
Co-editors: Petar Milovanovic (Belgrade, Serbia), Cristiana Cipriani (Rome, Italy)
Antonio Maurizi (L'Aquila, Italy)