The Autumn SYBIL newsletter is published here SYBIL Autumn
And pictures from the 1st Annual Meeting in Lyon can be seen here
Systems biology for the functional validation of genetic determinants of skeletal diseases
Who we believe may be related to our very own Yorkshire Black Sheep
SYBIL is funded by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement no. 602300
In the European Union alone an estimated 30 million people are affected by a rare disease with a prevalence of less than 1 in 2,000. Rare connective tissue diseases have an overall prevalence estimated at 1/2,000, while musculoskeletal disease in general have an overall prevalence of 1/130 newborns, reflecting their great diversity.
Many inherited connective tissue diseases are congenital, chronic, life threatening and associated with substantial morbidity, extensive and expensive heath care needs and considerable physiological stress and financial burden for affected families.
While the cost burden of rare connective tissue diseases in terms of illness and economic load is not known this recent study of Duchenne Muscular Dystrophy, with a prevalence of ~1 in 5,000, reported that the mean per-patient annual direct cost of illness was estimated at between 7 to 16 times higher than the mean per-capita health expenditure. Moreover, the indirect and informal costs, along with total societal and household burden, was even higher and increased substantially with disease progression.
Download the open access paper here.
From OrphaNews September 2014
In India, genetic testing is available in cities but rarely in rural settings. In an article published in the American Journal of Medical Genetics, Nampoothiri et al. report the experience of skeletal dysplasia (SD) diagnosis in a hospital in Kerala, where half the population lives in rural areas. From November 2005 to April 2013, physicians were trained to conduct genetic counselling, evaluation and testing on families at risk of carrying some form of SD or related condition. With the remote assistance of specialists based abroad, for complex cases, and networks such as the European Skeletal Dysplasia Network, the hospital investigators diagnosed 514 cases of SD. Mutation analysis confirmed 109 cases, 54 cases were confirmed by enzyme analysis and the remaining 351 were diagnosed by clinical and radiological evaluation.