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  1. 1. DIAGNOSIS AND SCREENING IN RARE DISEASES IN ROMANIA Maria PUIU, Monica Stoian, Dorica Dan, Cristina Skrypnyk, Margit Serban  Medical Genetics, University of Medicine and Pharmacy “Victor Babes”, Timisoara,  RoNARD  Medical genetics, Oradea
  2. 2. A disease is considerate rare if it affects less than 5/10000 of people.
  3. 3. A rare disease (an orphan disease) has such a low prevalence in a population that a doctor in a busy general practice would not expect to see more than one case a year. According to the European Commission, "rare diseases, including those of genetic origin, are life-threatening or chronically debilitating diseases which are of such low prevalence that special combined efforts are needed to address them."
  4. 4.  Most of rare diseases are genetic disorders, resulting from inherited or newly arising mutations in genes involved in the development and function of different organ systems.
  5. 5.  In many genetic and metabolic disorders, symptoms don’t begin until days or weeks after an infant is born.  By the time symptoms appear, damage may already have been done to the nervous system, kidneys, vision, hearing, and other body systems. That's why early detection of these serious disorders in all infants is very important.  Diagnosis and treatment of these disorders can reduce the risk of disease, disability, and even death.
  6. 6.  The idea of testing all newborn babies for disorders began in the 1960s with the development of a screening test for phenylketonuria, a metabolic disorder.  A method of collecting and transporting blood samples on filter paper was developed that made wide scale screening cost effective. Since then many more screening blood tests have been developed, and now an infant can be tested for more than 30 different genetic or metabolic disorders. New technology using tandem mass spectrometry can screen for many disorders using only a few drops of the baby’s blood.
  7. 7.  Screening for disorders is part of newborn health care in all developed countries. Most countries screen for phenylketonuria, congenital hypothyroidism, and cystic fibrosis.  Many also screen for congenital adrenal hyperplasia, galactosemia, and sickle cell disease, as well as other disorders.
  8. 8. In Romania…  the national health programs follow the screening for phenylketonuria and congenital hypothyroidism, but, unfortunately, the test are not homogenous nationwide, practically canceling the idea of screening.  This year the national health programs are looking to improve the number of counties which are included in the screening system to 22 (from 39), the number of new- borne to approximately 120000 for phenylketonuria and congenital hypothyroidism.
  9. 9. The diagnostic for rare disease in general is no better  The diagnostic for the genetic disease is possible in many Universities across the country, but the specialized personal and technical resources are insufficient and inefficient because of the lack of competent reference centers which can make a correct network approach for the rare disease, like in many European countries.
  10. 10.  The development of genetic investigations techniques from conventional cytogenetic analysis, to cytogenetic-molecular techniques and molecular investigations of the gene sequence and gene expression in different tissues, made possible the diagnosis of many genetic disorders and identified the underlying causes.
  11. 11. Conclusion  1980….screening CF, PKU  1980……cytogenetics  1985….congenital malformations and genetic disorders
  12. 12. Conclusion  France – model of approach for RD but also a model of battle  MH – insistant and coherent pressures---resutls  APWR, ANBRaRo – engine  Specialists – gathering in a common target
  13. 13. Ethics Lesson  Diagnosis of a genetic disorder has implications for many family members.  Use of genetic testing has implications for many family members
  14. 14. They need us and they need a life lived with degnity!
  15. 15. Thank you!