Monthly Archives: October 2013

Was Sir Francis Bacon a rare disease researcher?


Sir Francis Bacon (1561-1626) was a philosopher, politician, scientist and author. He served both as Attorney General and Lord Chancellor of England.


In 1620 he wrote his classical text, Novum Organum, or “Aphorisms Concerning The Interpretation of Nature and the Kingdom of Man”

In this text he put forward the suggestion that:-

“We have to make a collection or particular natural history of all prodigies and monstrous births of nature; of everything that is new, rare, and unusual. This must be done, however, with the strictest scrutiny, that fidelity may be ensured…………”

“… rare and extraordinary works of nature the understanding is excited and raised to the investigation and discovery of forms capable of including them.”

Is this what we now refer to as DEEP PHENOTYPING ?

Answers on a postcard please.

Yorkshire Cricket

It’s a quite week in skeletal genetics, but on the other side of the world the English Cricket team has arrived in Australia for the Ashes.

Let’s hope it’s more keenly fought this time……

Amongst the team are some young Yorkshire players (even if one was born in Zimbabwe), so here is our tribute to the White Rose County, which celebrated its 150th Anniversary this season.



Enough said…..

But let us not forget the great one either…


Pete and Kasia @ 9th Pan Pacific Connective Tissue Societies Symposium

pan pacific

Pete and Kasia will be attending the 9th Pan Pacific Connective Tissue Societies Symposium and presenting some exciting new work.

“A V156D matrilin-1 mouse model reveals limited intracellular retention of mutant protein that does not lead to short-limbed dwarfism” as an ORAL and POSTER presentation.

“The Xbp1 arm of the UPR is triggered by the expression of mutant matrilin-3 (Matn3) and type X collagen (Col10a1), but only has a pro-survival role in a mouse model of Matn3-MED and not Col10a1-MCDS” as a POSTER presentation.

Sir Thomas Fairbank and MED


Harold Arthur Thomas Fairbank qualified in medicine at the Charing Cross Hospital in 1898. After serving as a Volunteer in the Boer War in South Africa (1899-1902), he trained in surgery at the Hospital for Sick Children, Great Ormond Street and in 1906 he was appointed Orthopaedic Surgeon to the Charing Cross Hospital. In 1914, during World War I, he served with the Royal Army Medical Corps in France and Flanders. After war service he was appointed orthopaedic surgeon at King’s College Hospital, London, where he remained until he retired in 1936.

Fairbank Paper

Nearly 70 years ago Sir Thomas Fairbank published the first detailed account of a disorder that he described as ‘dysplasia epiphysialis multiplex’. This remarkable paper was the product of over 35 years of clinical investigation and documented the clinical and radiographic findings of 20 patients with MED that he had diagnosed between 1909 and 1946.

Although Fairbank concluded that MED, ‘as a rule, is not inherited or familial’, ensuing reports clearly established that MED could be inherited as an autosomal dominant disorder (see Waugh 1952; Maudsley 1955; Shephard 1956).


Roy Homer Maudsley FRS (1918-2011)

Full article here

Other historical papers describing MED can be found here:-

Cowan 1963

Elsbach 1959

Some facts about SYBIL


Skeletal diseases range from a large and diverse group of rare monogenic diseases (such as chondrodysplasias) to highly prevalent but genetically complex diseases such as osteoarthritis (OA) and osteoporosis (OP). The overall concept of this FP7-funded project is to study the genetic causes of both rare and common skeletal diseases in order to gain a better understanding of the disease processes and age-related changes. This fundamental research will help to deliver new and validated therapeutic targets that will eventually stimulate new therapies for these debilitating diseases.

SYBIL brings together a complementary group of world-class scientists, disease modellers, information technologists and industrialists that will deliver the ambitious objectives of this programme of research.


  • Rare skeletal diseases (RSDs) are an extremely diverse and complex group of diseases that primarily affect the development skeleton. There are more than 450 unique and well-characterised phenotypes that range in severity from relatively mild to severe and lethal forms. Although individually rare, as a group of related orphan diseases, RSDs have an overall prevalence of at least 1 per 4,000 children, which extrapolates to a minimum of 225,000 people in the 27 member states and candidate countries of the EU.
  • OA is the most common form of arthritis and the World Health Organisation estimates that 25% of adults aged over 65 years suffer from pain and/or disability from OA and it is ranked 12th for disease burden in the EU25 and 35-40 million people suffer from OA in Europe. OA is estimated to be 30-70% genetic with strong environmental risk factors of ageing, obesity and joint trauma.
  • OP is also a polygenic disease in which the quality and density of bones is reduced leading to weakness and increased risk of fractures. OP and its associated fractures are a major cause of morbidity and mortality since the lifetime risk for osteoporotic fractures in women is 30-50% and in men is 15-30%.
  • OA and OP have a rising prevalence with age and result in a loss of independence with a greatly reduced quality of life and represent a major healthcare burden of increasing scale in Europe with the projected expansion of the elderly population.