Tag Archives: Genetic Skeletal Diseases

Armet/Manf as a potential secreted biomarker for ER stress related diseases


Recent article published by Dr Chen and colleagues confirming that Armlet/Manf can potentially act as a diagnostic and/or prognostic biomarker in ER stress–related kidney diseases. This will help to stratify disease risk, predict disease progression, monitor treatment response and possible identify subgroups of patients who can be treated with ER stress modulators in a highly targeted manner.

This finding supports our 2103 paper using mouse models of genetic skeletal diseases Harley 2013

In this study we hypothesised that:-

“The interesting observation that Armet and Creld2 are secreted under conditions of increased ER stress suggests the possibility that they may be exploited as soluble extracellular biomarkers of ER stress-related diseases that are gene product and/or mutation specific”

On this day………..Sir Thomas Fairbank and genetic skeletal diseases

Sir Thomas Fairbank (28th March 1876 – 26th February 1961) will be remembered as a leader and the scientist who first described multiple epiphyseal dysplasiaFairbank

“My forty-five years experience of this problem leads me to emphasise the difficulty of what I would call the ‘diagnosis of prognosis“

Journal of Bone and Joint Surgery (1948)

But perhaps the best accolade is this……

When Sir Harold Arthur Thomas Fairbank published his monumental Atlas of General Affections of the Skeleton, in 1951, his reviewer wrote:-

“Sir Thomas Fairbank knows far more about bone disease than anyone else in the country. This not only because of his many years on the staff of an undergraduate teaching hospital and of the hospital for Sick Children, Great Ormond Street, but also because he is our orthopaedic father, whose interests we know and to whom we take all our problems and prizes.”

Relevant articles on line:-

Sir Tom


logo-rcsFairbank, Sir (Harold Arthur) Thomas (1879 – 1961)

Kt 1946; OBE 1919; DSO 1918; MRCS 2 August 1898; FRCS 12 December 1901; LRCP 1898; LDS 1899; MB London 1898; BS 1902; MS 1903.

Born on 28 March 1879 son of Thomas Fairbank MD, MRCS a practitioner at Windsor, he was educated at Epsom College from which he gained an open scholarship to Charing Cross Hospital. He qualified in 1898 as a doctor and in 1899 as a dentist but, after a house surgeon’s appointment at Charing Cross, he volunteered for the South African war and was at Lord Robert’s camp at Paardeberg when Cronje surrendered.

On his return to England, after achieving his higher surgical qualifications he was appointed resident superintendent at Great Ormond Street Hospital, and became surgical registrar. He was then appointed orthopaedic surgeon to Charing Cross, the first appointment of its kind in London, and also to Great Ormond Street, where his particular study was of congenital dislocation of the hip. In 1914 he visited orthopaedic centres in New York and Boston but, as the holder of a commission in the RAMC (TF), he was mobilised with the 85th Field Ambulance and proceeded to Belgium and France, mostly in the vicinity of Ypres. Later his unit was moved to Macedonia to serve in Struma valley, and he was appointed consulting surgeon to the British Salonika Force, being awarded the DSO and OBE, and being three times mentioned in dispatches.

On returning to England he was invited to take charge of an orthopaedic department at King’s College Hospital and to act as consultant orthopaedic surgeon to King Edward VII Hospital for Officers and to the Treloar Hospital at Acton. He was an honorary Fellow of the Royal Society of Medicine and president of its Orthopaedic and Children’s sections. As president of the British Orthopaedic Association he was invited to give the Lady Jones Lecture at Liverpool in 1929, and was Robert Jones lecturer at the College in 1938; he was made an honorary MCh (Orth) Liverpool in 1939.

On the outbreak of the second world war he was appointed consultant adviser in orthopaedic surgery to the Ministry of Health, and he was knighted for his services. For over fifty years he contributed to original literature and he was blessed with a retentive memory for people and places together with great courtesy and charm. He epitomised his life’s work in his book An Atlas of general Affections of the Skeleton Livingstone, 1951.

He married in 1909 Florence Kathleen, younger brother of A G Ogilvie, by whom he had a son, T J Fairbank FRCS an orthopaedic surgeon at Cambridge, and two daughters.

Fairbank died on 26 February 1961 in his eighty-fifth year. A memorial service was held at St Mary’s, Bryanston Square on 9 March.

It’s the SYBIL mid-term review

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


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

SYBIL Winter Newsletter……..

SYBIL Winter

I feel a hymn coming on………..

O Come All Ye Omics
transcripts and proteomes,
O come ye, O come ye to SYBIL database.
Come and behold ‘big data’,
Generated by SYBIL;
O come, let’s have transcriptomics,
O come, let’s have proteomics,
O come, let’s have metabolimics,
All for Systems Biology.

Full Newsletter is here SYBIL Winter 2016 compressed