Founded in March 2012, following the National Rare Diseases Alliance meeting held in Bucharest (February 2012), it aims to help patients and professionals altogether in finding guidance, support and, last but not least, attempting a more efficient networking platform in a field which momentarily lacks a proper setting.
The new concepts in modern Genetics postulate that simply “all diseases are, in fact, genetic” (in different percentages, seeing DNA&RNA coding as the intimate framework of life, including epigenetics, i.e. the influence of environmental factors upon genes, and especially gene expression).
Furthermore, “rare diseases” (defined by WHO as “diseases with an incidence/occurance less than 1 in 2000 newborn) are very highly represented in populations: around 6-8% of the gereral public have such a disease. The figures are just extremely rough estimates, addressing and accessing genetic testing are still low, leading to significant underdiagnosing, lots of well-known genetic disordes remain undetected. The numbers could increase dramatically if thoroughly investigated.
Genetic counselling has many functions, hence the necessity of this platform.
Thank you and God bless us all!
Traian Stefan Grozescu, M.D.