Stoian Pws Cluj


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Stoian Pws Cluj

  1. 1. NETWORK APPROACH OF THE MANAGEMENT OF PRADER-WILLI AND ANGELMAN SYNDROMES, ROMANIAN EXPERIENCE Maria Puiu1, Natalia Cucu2, Gabriela Anton3, Dorica Dan4, Calin Popoiu5, Valerica Belengeanu1, Monica Stoian1, Cristina Rusu6, Victor Pop7, Corin Badiu8 1. University of Medicine and Pharmacy “Victor Babes” Timisoara, Romania 2. Department of Epigenetics, Faculty of Biology Bucharest 3. National Institute of Virusology, Bucharest 4. Romanian Association Prader-Willi, Romanian Aliance of Rare Diseases 5. Clinical Hospital of Emergency for Children “L. Turcanu” Timisoara 6. University of Medicine and Pharmacy “T. Popa” Iasi 7. University of Medicine and Pharmacy “I. Hatieganu” Cluj- Napoca 8. National Institute of Endocrinology, Bucharest
  2. 2. The aim of the project is the integration of a multidisciplinary approach for Prader-Willi and Angelman syndromes, distinct genomic diseases, with a neurodegenerative component.
  3. 3. The cooperation begun a few years ago, with Prader-Willi Association in Romania.
  4. 4. The project has 8 partners: • University of Medicine and Pharmacy “Victor Babes” of Timisoara • University of Bucharest • Institute of Virusology “Stefan Nicolau” Bucharest • Prader-Wlilli Association in Romania • Clinical Hospital of Emergency for Children “L. Turcanu” Timisoara • University of Medicine and Pharmacy “T. Popa” Iasi • University of Medicine and Pharmacy “I. Hatieganu” Cluj- Napoca • National Institute of Endocrinology “C. I. Parhon” Bucharest
  5. 5. General and specific objectives of the project
  6. 6. General objectives • Implementation of new molecular methods for genetic/epigenetic investigation and establishment of national centres with high expertise in approaching the two syndromes, that will develop educational reference and release centres.
  7. 7. • Evolving efficient partnership with patients associations. The power of these associations will propel the research, will inform the patients and will respond to civil society questions.
  8. 8. • Establishing international collaboration and partnerships with researchers having similar scientific preoccupations, establishing partnerships with other National and International Organizations and affiliated research groups from each country aiming financial support on programs that intend to stimulate collaboration between specialists, researchers and nongovernmental organizations.
  9. 9. • Developing a multidisciplinary partnership to build a common platform of activities for new innovative solutions in respect to rare disease needs.
  10. 10. These new bridges of real and effective collaboration will ascertain on the national level the creation of a solid network comprising institutions with high expertise in this domain, well connected to other national or international research networks.
  11. 11. Specific objectives • Developing of a clinical interdisciplinary investigation algorithm specified for PWS/ AS and clear evaluation after elaboration of scores that will track down easily the suspicious cases and will allow genetic/epigenetic investigation, aiming a rapid and correct diagnosis and an efficient early treatment.
  12. 12. Cassidy and Driscoll, 2009 PWS AS 65-75% 5-11% 3-7% 3% 70% Rebecca Burdine and Erin Sheldon 20-30% 2-5% < 1 % chromosomal translocation
  13. 13. PWS diagnostic criteria (Gunay-Aygun et al. 2001) • children < age 3 years, 5 points are required for diagnosis, 4 of which must be major criteria. • individuals age ≥ 3 years, 8 points are required for diagnosis, at least 5 of which must be major criteria.
  14. 14. Birth to two years • Hypotonia with poor suck in the neonatal period Two to six years • Hypotonia with history of poor suck • Global developmental delay Six to 12 years • History of hypotonia with poor suck (hypotonia often persists) • Global developmental delay • Excessive eating with central obesity if uncontrolled 13 years to adulthood • Cognitive impairment, usually mild mental retardation • Excessive eating with central obesity if uncontrolled • Hypothalamic hypogonadism and/or typical behavior problems Cassidy and Driscoll, 2009
  15. 15. Mutation Detection Mutations Test Method Frequency by Test Detected Method Methylation Methylation analysis 99% abnormality FISH/Quantitative Deletion of PWCR 70%-75% PCR Uniparental disomy UPD of PWCR 25%-29% (UPD) studies Imprinting center Sequence analysis <1% defect Suzanne B Cassidy, 2008
  16. 16. Consensus criteria for the clinical diagnosis of AS (Williams et al. 2006) • Findings typically present in affected individuals • Findings in more than 80% of affected individuals • Findings in fewer than 80% of affected individuals
  17. 17. Parent- Mutation Specific Locus, Gene, Test Mutations Detection DNA or Methods Detected Frequency by Methylation Chromosome Test Method Imprint 5-7 Mb AS/PWS region FISH or CGH deletion of ~68% 15q11.2-q13 Abnormal Chromosome 15 UPD study UPD ~7% Deletion 6-200 kb AS IC ~3% analysis deletions Sequence Sequence ~11% analysis variants Normal UBE3A Deletion/ Partial or duplication whole-gene Rare analysis deletions Charles A Williams, 2008
  18. 18. SNRPN SNRPN
  19. 19. • We gathered a multidisciplinary team which includes: geneticists, paediatricians, neurologists, endocrinologists, dietarians, psychologists, pedagogues, social workers and also educators, occupational therapists, psychomotor therapists, physical therapists, speech therapists.
  20. 20. • Access of a standardized base for PSW/AS gathering clinical data, genetic, epigenetic from all the country aiming European integration and describing an European model resulting in a National Registry for Rare Disease.
  21. 21. Hopefully this project and the cooperation with the Ministry of Health and other decisional forums, will allow the approach of the rare diseases in a network, with the establishment of the reference centers and the competence ones.
  22. 22. THANK YOU!